Precision Medicine Conversations: A Redundant Account of Discussions in Precision Medicine:

A Redundant Account of Discussions in Precision Medicine:
Understanding the Shift Towards More Preventive & Predictive Care Delivery

1. Precision Medicine Conversations
© 2025 Safia Fatima Mohiuddin

2. Precision Medicine Conversations

A Redundant Account of Discussions in Precision Medicine:
Understanding the Shift Towards More Preventive & Predictive
Care Delivery
© 2025 Safia Fatima Mohiuddin

3. © 2025 Safia Fatima Mohiuddin

4. © 2025 Safia Fatima Mohiuddin
“Doctors have always recognized that every patient is unique,
and doctors have always tried to tailor their treatments as best
they can to individuals. You can match a blood transfusion to a
blood type — that was an important discovery. What if
matching a cancer cure to our genetic code was just as easy, just
as standard? What if figuring out the right dose of medicine was
as simple as taking our temperature?”
- President Obama, January 30, 2015
Source: https://obamawhitehouse.archives.gov/precision-medicine
Obama’s Precision Medicine Initiative (PMI)
“

5. Copyright © 2025 by Safia Fatima Mohiuddin.
All rights reserved.


No part of this content may be reproduced in any form - by electronic, mechanical, or
otherwise, including storage & retrieval systems, without written permission from the author. All
text & images are either in the public domain or the copyright of the author.
© 2025 Safia Fatima Mohiuddin

6. Disclaimer

This content provides accurate and authoritative information about the subject matter covered.
Facts & opinions are summarized & available as per date of writing indicated. The author holds
no responsibility for the content or evidence summarized or linked in the text. The inclusion of
authors & links does not imply any sort of endorsement. The author has used the best efforts in
preparing this material. However, this does not imply any representations or warranties
concerning its accuracy or completeness. The author disclaims any implied warranties of
merchantability or fitness for a particular purpose. The enclosed content is for the purpose of
information & discussion only. It does not act as a substitute for medical or professional advice.
You should consult with a professional when appropriate. No liability or responsibility rests with
the author for damage(s) or loss of profit incurred as a result of implementing the advice(s)
mentioned. The advices & strategies explained in the enclosed content may not be suitable for
your situation. No warranty may be created or extended in written sales materials or by sales
representatives.
© 2025 Safia Fatima Mohiuddin

7. About this Book

The book is a compilation of current discussions in precision medicine from authoritative
sources in the healthcare industry. Each conversation is preserved, & no new models or
viewpoints are suggested or derived. The purpose is to empower patients, as understanding the
current state of care delivery enables them to make meaningful & shared decisions, therefore
seeking appropriate & timely care. Any discrepancies or concerns may be reported to the
author.
© 2025 Safia Fatima Mohiuddin

8. The Conversation:
4P Medicine by Worldwide Clinical Trials
© 2025 Safia Fatima Mohiuddin

9. Worldwide Clinical Trials proposes the 4P Medicine in clinical
development - Prevention, Prediction, Precision, Participation
[1]

The key takeaways of 4P Medicine:
➔Addresses disease heterogeneity.
➔Integrates diverse biological information into a societal concept.
➔Leads to development of actionable models to manage health &
disease.
➔Patient-reported outcomes used in analysis & decision-making
to overcome one-size-fits-all approach.
➔Envisages patient & family participation.
➔The result - Better patient care & better health outcomes.

What is Precision Medicine?
[1] Murphy, M. and Argueta, L.B. (2025) 4P Medicine: Prevention, Prediction, Precision, & Participation
and Its Impact in Clinical Development, Worldwide Clinical Trials. Available at:
https://www.worldwide.com/insights/exploring-4p-medicines-impact-on-clinical-development/?actio
n=search_ajax_request&s=4P%20Medicine:%20prevention,%20prediction,%20precision,%20and%2
0participation&pageNumber=1 (Accessed: 14 June 2025).
4P Medicine - Worldwide Clinical Trials [1]

10. The Conversation:
Columbia University Perspective
© 2025 Safia Fatima Mohiuddin

11. What is Precision Medicine?

[2]“Precision Medicine Patient Care,” Columbia.edu, 2025. Available:
https://www.precisionmedicine.columbia.edu/content/precision-medicine-patient-care
Individual’s Personal Characteristics &
Symptoms
Identify Prevention &
Treatment Strategies
Accurately Predict
Anticipated Effects of
Medical Intervention
Reduced Costs
Improved
Outcomes
Greater Patient
Engagement
Decreased
Adverse
Effects
Columbia University Perspective [2]

12. What is Precision Medicine?

[2]“Precision Medicine Patient Care,” Columbia.edu, 2025. Available:
https://www.precisionmedicine.columbia.edu/content/precision-medicine-patient-care

Individual (Realtime)
Patient Information
Stratify Disease
Risk Iteratively
Overtime
Identify Optimal
Methods to Manage
Risk
Ongoing Reassessment of
Disease Risk
Improved Understanding of
Genetic & Genomic Data
Monitor Patient Health Status in
Real Time with Biomarkers
Accurate Prognostic
Information
Selection of Targeted
Therapies
Lower Probability of
Adverse Reaction /
Toxicity
Greater Probability of
Success
Increased Cost
Efficiency
Improved Patient
Outcomes
Columbia University Perspective [2]

13. The Conversation:
Denny & Collins (2021) Commentary
© 2025 Safia Fatima Mohiuddin

14. [7] Routine Clinical
Genomics
[6] Electronic Health
Records
[5] Phenomics &
Environment
[4] Privacy, Trust,
Return of Value
[3] Huge Longitudinal
Cohorts
[2] Diversity &
Inclusion
What is Precision Medicine?
[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581
[1] Big Data & AI
Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]

15. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
AI and big data can address
problems of language
translation, image
interpretation & search
optimization. The 5 Vs of
big data - high velocity,
voluminous, variability,
variety & intrinsic value are
characteristic to biomedical
datasets.

[1] Big Data & AI

16. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Biomedical datasets,
clinical data (narrative,
image & real-time
monitoring), data streams
from devices & wearables,
molecular technologies such
as genomics will make
environmental & phenotypic
data available. ML will use
phenomic, genomic, &
environmental predictors
leading to new disease
taxonomies.

[1] Big Data & AI

17. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Lack of population
diversity worsens health
disparities & makes
biologic discoveries
inapplicable to all groups
(African/Hispanic/Latin
American ancestry
populations are < 3% in
GWAS; in clinical trials, 86%
are white). Race/ethnicity
adjustments must be
replaced with specific
measures.

[2] Diversity &
Inclusion

18. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Routine collection of social
determinants of health &
precise measures of habits,
environmental influence &
genetic ancestry provide
etiology-based, rational
adjustments for better risk
stratification & treatment.
Diversity in biomedical
research workforce &
ethics of international
collaborations is required.

[2] Diversity &
Inclusion

19. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
National cohorts have
population data entailing
laboratory, genomic, lifestyle
assessments & longitudinal
follow-up on health
outcomes. An "open
science" approach is
emerging. Researchers need
to merge data from multiple
cohorts through common
data models &
interoperable file formats to
promote collaboration.

[3] Huge Longitudinal
Cohorts

20. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Authentic Community
Engagement allows large
population participation
through privacy, trust &
return of value.
Transparency/inclusion in
research governance raises
trust/culture sensitivity.
Legal, public data breach,
& re identification fear are
barriers. This requires
communication & data
privacy protection/analysis.

[4] Privacy, Trust,
Return of Value

21. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Measuring exposures/
lifestyle/clinical
phenotypes requires
national vital stats, claims &
geostatistical resources.
Wearables data (exposures,
clinical measures) will feed
EHRs/telehealth. Nutrition
impact is recorded from
dietary habits, data from
grocery/restaurants, ML for
food imaging & lab/
microbiome assessments.

[5] Phenomics &
Environment

22. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Commentary: Denny & Collins, 2021 [3]
Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Site-based, national cohorts
use EHR data to repurpose.
Endophenotypes, rare/
specific/emerging
phenotypes, disease
manifestations enable
novel study designs. EHR
data will predict outcomes.
Large scale genetic studies
may use biomarkers,
exposures, cell-free DNA,
& epigenomics & not
biospecimens.

[6] Electronic Health
Records

23. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Genomic analysis is currently
performed for rare diseases
on genetic loci. In future,
whole genome approaches
will help understand,
prevent, detect & treat
both common & rare
diseases. Early genome
sequencing is expected to
solve diagnostic dilemmas,
development delays &
enable screening strategies
for health improvement.

[7] Routine Clinical
Genomics

24. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Research across thousands
of participants indicates how
common diseases relate to
genetic risks at thousands
of loci & weighted
aggregations of genetic
variants can lead to
polygenic risk scores to risk
stratify individuals missed in
traditional screening,
identifying new
populations for treatment.

[7] Routine Clinical
Genomics

25. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Targeted therapies for
common diseases could
identify a spectrum of
penetrance, severity &
expressivity. guided by
severity of genetic variants,
environmental interactions
& lifestyle.

[7] Routine Clinical
Genomics

26. What is Precision Medicine?

[3JC. Denny and F. S. Collins, “Precision medicine in 2030—seven ways to transform healthcare,” Cell,
vol. 184, no. 6, pp. 1415–1419, 2021, doi: https://doi.org/10.1016/j.cell.2021.01.015. Available:
https://www.sciencedirect.com/science/article/pii/S0092867421000581

Seven Ways
Precision
Medicine will
Change the
Face of
Healthcare by
2030
Commentary: Denny & Collins, 2021 [3]
Routine sequencing datasets
assist secondary research
for variant pathogenicity,
disease penetrance &
factors tied to variable
expressivity of genetic
variants. Genomic data will
increase actionable genes
& affected population
subset.
Pharmacogenomics can
improve drug efficacy &
reduce cost/adverse events.

[7] Routine Clinical
Genomics

27. The Conversation:
India Today Insight
© 2025 Safia Fatima Mohiuddin

28. The key takeaways of PPPM Medicine:
➔A transformation in disease prediction & personalized treatment.
➔A promising approach enabling innovation, early prediction,
disease prevention, personalized treatment & patient
participation.
➔Effective in treating heart disease, cancer, diabetes &
neurological disorders.
➔Enables numerous techniques in use to predict disease: genetic
testing to identify DNA variations, blood tests to detect elevated
protein levels linked to disease risk (C-reactive protein to detect
inflammation as a disease precursor), imaging (MRI & CT scans)
to detect early disease development.
What is Precision Medicine?

[4]Sonali Acharjee, “Why Predictive, Preventive and Personalised Medicine is the next big thing in
healthcare,” India Today, 2024. Available:
https://www.indiatoday.in/india-today-insight/story/why-predictive-preventive-and-personalised-me
dicine-is-the-next-big-thing-in-healthcare-2545346-2024-05-29

“Predictive,
Preventive, and
Personalized
Medicine”
India Today Insight [4]

29. The key takeaways of PPPM Medicine:
➔Allows a comprehensive health trajectory using predictive
techniques in Artificial Intelligence & Machine Learning.
➔In treating individuals, precision medicine incorporates genetic
makeup & relation to treatment response for “tailored therapy”
& minimal adverse effects.
➔Personalized outcome prediction leads to precise planning,
schedule monitoring & timely interventions (laparoscopic &
robot-assisted surgery allow less scarring & faster recovery).
➔Personalized rehabilitation after treatment can significantly
improve a patient’s quality of life & long-term health.
What is Precision Medicine?

[4]Sonali Acharjee, “Why Predictive, Preventive and Personalised Medicine is the next big thing in
healthcare,” India Today, 2024. Available:
https://www.indiatoday.in/india-today-insight/story/why-predictive-preventive-and-personalised-me
dicine-is-the-next-big-thing-in-healthcare-2545346-2024-05-29

“Predictive,
Preventive, and
Personalized
Medicine”
India Today Insight [4]

30. The key takeaways of PPPM Medicine:
➔In India, PPPM will reduce healthcare costs, enable detecting
disease susceptibility before symptoms manifest & curtail
challenges related to non-communicable diseases.
➔Recognizing patterns in clinical data enable outcome
prediction.
➔Challenges exist related to genetic testing & biomarker analysis;
advanced diagnostics & medications may be costly. Healthcare
staff & public must be made aware of PPPM & robust data
security measures must be in place to handle sensitive genetic
information.
What is Precision Medicine?

[4]Sonali Acharjee, “Why Predictive, Preventive and Personalised Medicine is the next big thing in
healthcare,” India Today, 2024. Available:
https://www.indiatoday.in/india-today-insight/story/why-predictive-preventive-and-personalised-me
dicine-is-the-next-big-thing-in-healthcare-2545346-2024-05-29

“Predictive,
Preventive, and
Personalized
Medicine”
India Today Insight [4]

31. The Conversation:
Economic Evaluation of Predictive Genomic Applications
© 2025 Safia Fatima Mohiuddin

32. What is Precision Medicine?

[5]P. Villari, E. Pitini, E. D’Andrea, and A. Rosso, “Evaluation of Predictive Genomic Applications,” in
SpringerBriefs in public health, Springer International Publishing, 2020, pp. 33–55. doi:
https://doi.org/10.1007/978-3-030-52399-2_3
Perspectives on
“Economic
Evaluation of
Predictive
Genomic
Applications”

Genetic Screening,
Cost-Control,
Stakeholders, &
Policy
Population Health Perspective [5]
➔Pitini & team (2018) argue that genetic testing requires a
broader Health Technology Approach (HTA) by assessing
evaluation in context - economic evaluation, delivery models,
organizational aspects. The approach maximizes population
health benefits, facilitates decision-making, & addresses
challenges of implementing genetic tests in universal
healthcare systems, where economic sustainability exists.
➔Tognetto & team (2017) identified the need for large scale
Lynch syndrome (LS) screening, a cause of Colorectal Cancer
(CRC). Pathway implementation to identify LS has not been
realized. Therefore, large scale LS screening can reduce CRC
morbidity/mortality. This requires coordinated efforts, key
stakeholder education & addressing public needs.

33. What is Precision Medicine?

[5]P. Villari, E. Pitini, E. D’Andrea, and A. Rosso, “Evaluation of Predictive Genomic Applications,” in
SpringerBriefs in public health, Springer International Publishing, 2020, pp. 33–55. doi:
https://doi.org/10.1007/978-3-030-52399-2_3
Perspectives on
“Economic
Evaluation of
Predictive
Genomic
Applications”

Genetic Screening,
Cost-Control,
Stakeholders, &
Policy
Population Health Perspective [5]
➔Andrea & team (2016) studied the effectiveness of BRCA
screening of newly diagnosed cases of breast or ovarian cancer,
& indicated that tools to identify high-risk women for inherited
forms hold promise. Understanding BRCA screening cost can
lead to cost-effective interventions for population-level
screening.
➔Rosso & team (2017) studied familial hypercholesterolemia &
indicated that cascade genetic screening for relatives of the
index case with confirmed genetic or clinical diagnosis is a
cost-effective strategy.
➔DiMarco & team (2018) studied universal & age-targeted
CRC-based LS screening & linked it to willingness to pay. The
characteristics of the target population must be considered to
design & implement the screening program.

34. What is Precision Medicine?

[5]P. Villari, E. Pitini, E. D’Andrea, and A. Rosso, “Evaluation of Predictive Genomic Applications,” in
SpringerBriefs in public health, Springer International Publishing, 2020, pp. 33–55. doi:
https://doi.org/10.1007/978-3-030-52399-2_3
Perspectives on
“Economic
Evaluation of
Predictive
Genomic
Applications”

Genetic Screening,
Cost-Control,
Stakeholders, &
Policy
Population Health Perspective [5]
➔Rosso & team (2017) studied the attitudes of public health
professionals on public health genomics (PHG) & found that a
positive attitude existed towards PHG, however, an
improvement in knowledge on appropriateness of genetic
testing & delivery models of genetic services is required.
Knowledge gaps of professionals involved in PHG activities
must be addressed.
➔Migilara & team (2018) reviewed genetic testing guidelines for
familial hypercholesterolemia & found that DNA testing must
be performed at the earliest opportunity to identify familial
hypercholesterolemia & their carrier status, to realize morbidity
& mortality benefits.

35. What is Precision Medicine?

[5]P. Villari, E. Pitini, E. D’Andrea, and A. Rosso, “Evaluation of Predictive Genomic Applications,” in
SpringerBriefs in public health, Springer International Publishing, 2020, pp. 33–55. doi:
https://doi.org/10.1007/978-3-030-52399-2_3
Perspectives on
“Economic
Evaluation of
Predictive
Genomic
Applications”

Genetic Screening,
Cost-Control,
Stakeholders, &
Policy
Population Health Perspective [5]
Ethico - Legal and Policy Issues Surrounding Personalized Medicine

➔Obligations & responsibilities of research participants, general
public & research community must be clarified & validated by
collaborating & disseminating high-quality ethical policy & legal
analysis. Shifting research landscape requires integration of
expertise from ethics, law, bioinformatics, medicine, & IT. Policy
assessment using metrics is necessary & can be used to
finetune guidance for multiple stakeholders.
➔Mazzucco & team (2017) studied the state of genomics policies
in healthcare in EU member states by interviewing Chief
Medical Officers (CMOs) & found that five countries had
genomics policies in healthcare - France, Belgium, Italy, UK, &
Spain. Researchers indicate that a coordinated effort is required
to develop & harmonize policies.

36. The Conversation:
UCLA Health Medical Services Snapshot of Precision Medicine
© 2025 Safia Fatima Mohiuddin

37. What is Precision Medicine?

[6]“Precision Medicine Treatment,” Uclahealth.org, 2019. Available:
https://www.uclahealth.org/medical-services/precision-medicine
UCLA Health
Precision
Medicine: UCLA
Health Medical
Services
Snapshot
Precision Medicine Medical Services Snapshot [6]
➔Coordination of access departments - team of engineers, clinical
research, computer science professionals, genetic experts &
patient-centered care experts.
➔Combining knowledge & expertise.
➔More personalized, more effective medicine.
➔Customized treatments, new discoveries, new hope & innovative
treatments.
➔Deep understanding of rare diseases & innovative treatments.
➔Wearable devices to gather patient information, reduce risk,
improve decisions & enhance patient health.
➔Genomic testing to isolate genes for diseases of the heart, brain,
cancer, skeletal, autoimmune, neuromuscular & genetic
mutations.

38. The Conversation:
European Project PRECeDI Recommendations
© 2025 Safia Fatima Mohiuddin

39. What is Precision Medicine?

[7]Pastorino et al., “The Personalized PREvention of Chronic Diseases (PRECeDI) recommendations
on Personalized Medicine,” European Journal of Public Health, vol. 28, no. suppl_4, 2018, doi:
https://doi.org/10.1093/eurpub/cky213.607. Available:
https://academic.oup.com/eurpub/article/28/suppl_4/cky213.607/5191826
European
Project
PRECeDI
European Project PRECeDI Recommendations [7]
Integrating Personalized Medicine into Prevention

➔PRECeDI provides multi-disciplinary training focusing on
personalized prevention of chronic disease. The project takes on
precision medicine a step further by implementing it in diagnosis
of disease & treatment using biomarkers.
➔Implementation is possible through a “concerted effort &
implementation” in healthcare systems.
➔Prevention in healthcare has a number of advantages including
improved life quality & reducing life spent with disability.
➔Personalized prevention can succeed with reduced costs
through scientific & digital advancements to stratify healthy
individuals on the basis of individual & environmental factors for
targeted primary, secondary & tertiary prevention interventions.

40. What is Precision Medicine?

[7]Pastorino et al., “The Personalized PREvention of Chronic Diseases (PRECeDI) recommendations
on Personalized Medicine,” European Journal of Public Health, vol. 28, no. suppl_4, 2018, doi:
https://doi.org/10.1093/eurpub/cky213.607. Available:
https://academic.oup.com/eurpub/article/28/suppl_4/cky213.607/5191826
European
Project
PRECeDI
European Project PRECeDI Recommendations [7]
Integrating precision medicine into preventive care for chronic disease
is achieved through recommendations that fall under five domains:

1.Identifying biomarkers for chronic disease prevention.

2.Economic evaluation of predictive genomic applications.

3.Ethico-legal & policy issues around personalized medicine.

4.Socio-technical analysis of pros & cons of informing healthy
individuals of their genome.

5.Identifying organizational models for provision of predictive
genetic testing.

41. What is Precision Medicine?

[7]Pastorino et al., “The Personalized PREvention of Chronic Diseases (PRECeDI) recommendations
on Personalized Medicine,” European Journal of Public Health, vol. 28, no. suppl_4, 2018, doi:
https://doi.org/10.1093/eurpub/cky213.607. Available:
https://academic.oup.com/eurpub/article/28/suppl_4/cky213.607/5191826
European
Project
PRECeDI
European Project PRECeDI Recommendations [7]
PRECeDI Implementations

➔Liu & team (2017) studied metabolic profiles & fasting glucose
in Type II diabetes & found causal metabolic paths of glucose
homeostasis & Type II diabetes. Increase in large HDL particles
may have decreasing effect on glucose. Increase in small HDL
particles may have increasing effect on glucose. Evidence of
altered levels of alkyl-acyl phosphatidylcholines & alanine was
found. This information may prevent complications & improve
prognosis.

42. What is Precision Medicine?

[7]Pastorino et al., “The Personalized PREvention of Chronic Diseases (PRECeDI) recommendations
on Personalized Medicine,” European Journal of Public Health, vol. 28, no. suppl_4, 2018, doi:
https://doi.org/10.1093/eurpub/cky213.607. Available:
https://academic.oup.com/eurpub/article/28/suppl_4/cky213.607/5191826
European
Project
PRECeDI
European Project PRECeDI Recommendations [7]
PRECeDI Implementations

➔Von der Lee & team (2018) discovered & replicated 15
circulating metabolites for general cognitive ability -
subfractions of DHA, HDL, glutamine, ornithine & glycoprotein
acetyls. Metabolites studied were independent of classic
cardiometabolic blood correlates of cognitive function. Six
metabolites of cognition were tied to dementia risk & three with
Alzheimer’s as well. Metabolites found were strongly effected by
lifestyle factors (smoking, diet & physical activity).

43. What is Precision Medicine?

[7]Pastorino et al., “The Personalized PREvention of Chronic Diseases (PRECeDI) recommendations
on Personalized Medicine,” European Journal of Public Health, vol. 28, no. suppl_4, 2018, doi:
https://doi.org/10.1093/eurpub/cky213.607. Available:
https://academic.oup.com/eurpub/article/28/suppl_4/cky213.607/5191826
European
Project
PRECeDI
European Project PRECeDI Recommendations [7]
PRECeDI Implementations

➔Giraldi & team studied prognostic biomarkers for head & neck
cancer (HNC) & identified five deregulated miRNAs - plasma
levels of the miRNA were linked to poor prognosis.
➔Cigarette & alcohol consumption predicted HNC mortality.
➔In oropharyngeal cancer, smoking status was an independent
prognostic factor for overall survival (OS). Smoking intensity was
an independent prognostic factor for OS in oral cavity cancer.
Overall survival & specific survival differed in HNC sites.
➔Pre-diagnosis cigarette smoking was a prognostic factor for OS
patients with oropharynx & oral cavity cancer.
➔Pre-diagnosis alcohol drinking was a prognosis factor for larynx
cancer patients. Low education level was an unfavorable
diagnostic factor in laryngeal cancer patients.

44. What is Precision Medicine?

[7]Pastorino et al., “The Personalized PREvention of Chronic Diseases (PRECeDI) recommendations
on Personalized Medicine,” European Journal of Public Health, vol. 28, no. suppl_4, 2018, doi:
https://doi.org/10.1093/eurpub/cky213.607. Available:
https://academic.oup.com/eurpub/article/28/suppl_4/cky213.607/5191826
European
Project
PRECeDI
European Project PRECeDI Recommendations [7]
PRECeDI Implementations

➔Multicenter study on predictors conducted by Leoncini & team
(2018) indicated that tumor stage & male gender (in larynx
cancer) predicted cancer recurrence in HNC patients as positive
predictors. Second primary cancer (SPC) predictors were alcohol
use & advanced age in laryngeal cancer cases. Female gender in
SPC was a predictor for oropharyngeal & HNC.

45. The Conversation:
Organizational Models for Genomics Applications
© 2025 Safia Fatima Mohiuddin

46. What is Precision Medicine?

[8]C. D. Vito, B. Unim, M. C. Cornel, A. Jani, and J. Roldan, “Identification of Organisational Models for
the Provision of Predictive Genomic Applications,” 2020, pp. 95–116. doi:
https://doi.org/10.1007/978-3-030-52399-2_6. Available:
https://www.researchgate.net/publication/347112391_Identification_of_Organisational_Models_for_th
e_Provision_of_Predictive_Genomic_Applications
Organizational
Models in
Genomics

Integrating
Genetics into
Medical
Specialities:
Models, Roles
Organizational Models for Genomics [8]
➔Genetics should be integrated into other medical specialities
using new delivery models with different healthcare
professionals i.e. nurses, technicians & medical specialists & new
professional roles i.e. genetic associates, genetic counsellors,
genetic nurses, for sustainability of new & existing genomic
applications in practice.
➔Roles & responsibilities, i.e. genetic counseling, risk assessment,
& genetic testing must be redistributed among healthcare
workers to enhance standard of care & work performance.
➔A model of genetic service provision in a setting according to
healthcare system & genetic test provided is required.
➔Successfully implementing genomics applications requires lab
quality standards, professional education & public awareness.

47. What is Precision Medicine?

[8]C. D. Vito, B. Unim, M. C. Cornel, A. Jani, and J. Roldan, “Identification of Organisational Models for
the Provision of Predictive Genomic Applications,” 2020, pp. 95–116. doi:
https://doi.org/10.1007/978-3-030-52399-2_6. Available:
https://www.researchgate.net/publication/347112391_Identification_of_Organisational_Models_for_th
e_Provision_of_Predictive_Genomic_Applications
Organizational
Models in
Genomics

Integrating
Genetics into
Medical
Specialities:
Predictive Genetic
Testing
Organizational Models for Genomics [8]
➔Unim and team (2017) worked on predictive genetic testing in
Europe to identify & classify delivery models & establish
appropriate ones to provide predictive genetic testing in Europe
by comparing sets of process & outcome measures. This will
improve genetic service delivery models in EU & genetic
decision-makers in delivery, financing & consumption of genetic
services by providing recommendations.
➔Unim & colleagues (2017) studied delivery models for
predictive genetic testing & concluded that outcome &
process measures & appropriate models must be identified to
provide predictive genetic testing in Europe.

48. What is Precision Medicine?

[8]C. D. Vito, B. Unim, M. C. Cornel, A. Jani, and J. Roldan, “Identification of Organisational Models for
the Provision of Predictive Genomic Applications,” 2020, pp. 95–116. doi:
https://doi.org/10.1007/978-3-030-52399-2_6. Available:
https://www.researchgate.net/publication/347112391_Identification_of_Organisational_Models_for_th
e_Provision_of_Predictive_Genomic_Applications
Organizational
Models in
Genomics

Integrating
Genetics into
Medical
Specialities:
Barriers &
Facilitators
Organizational Models for Genomics [8]

➔Cornel and Van El (2017) explored barriers & facilitators for
implementing genetic services:

-[1] Lack of genetic knowledge among physicians requires
curricula focused on scientific aspects of human genetics.
-[2] Lack of health technology assessment for genetics
application require Bayesian analysis & biomarker use as
surrogate outcomes for personalized medicine success.
-[3] Lack of translational research requires incorporating higher
phases of translation, such as assessing the value of genomic
application for health practice, dissemination & diffusion
research, evidence-based guideline delivery & evaluation of
health outcomes of a genomic application in practice.
-[4] Slow pace of translation, leads to “commercial offers
direct-to-consumer of tests” with a low predictive value.

49. What is Precision Medicine?

[8]C. D. Vito, B. Unim, M. C. Cornel, A. Jani, and J. Roldan, “Identification of Organisational Models for
the Provision of Predictive Genomic Applications,” 2020, pp. 95–116. doi:
https://doi.org/10.1007/978-3-030-52399-2_6. Available:
https://www.researchgate.net/publication/347112391_Identification_of_Organisational_Models_for_th
e_Provision_of_Predictive_Genomic_Applications
Organizational
Models in
Genomics

Integrating
Genetics into
Medical
Specialities:
Barriers &
Facilitators
Organizational Models for Genomics [8]
➔Other barriers include a lack of resource availability &
resource access, such as laboratory & personnel. Barriers may
also arise in the form of lack of innovative testing strategies &
ethical issues.
➔Scientists recommend genetic testing implementation on
priority for serious diseases, where positive testing results have
high positive predictive value & where interventions are available
at primary or secondary prevention levels.
--------------------------------------------------------------------------------
➔Facilitators include public awareness & training healthcare
professionals.

50. What is Precision Medicine?

[8]C. D. Vito, B. Unim, M. C. Cornel, A. Jani, and J. Roldan, “Identification of Organisational Models for
the Provision of Predictive Genomic Applications,” 2020, pp. 95–116. doi:
https://doi.org/10.1007/978-3-030-52399-2_6. Available:
https://www.researchgate.net/publication/347112391_Identification_of_Organisational_Models_for_th
e_Provision_of_Predictive_Genomic_Applications
Organizational
Models in
Genomics

Integrating
Genetics into
Medical
Specialities:
Individualized,
Personalized, &
Precision
Prevention
Organizational Models for Genomics [8]
➔Brio and team defined individualized, personalized & precision
prevention in public health. Defining these three key terms
helps researchers & policy makers differentiate & use the terms
in proper context.
-In Individualized Prevention, physicians consider lifestyle,
medical history, risk status, & medication to improve QoL.
-In Personalized Prevention, physicians consider biomarkers of
molecular disease pathways, transcriptomics, genetics,
metabolomics & proteomics to improve QoL.
-In Precision Prevention, physicians consider socioeconomic
status or opportunities from behavioral or psychological data of
client to improve QoL.

51. What is Precision Medicine?

[8]C. D. Vito, B. Unim, M. C. Cornel, A. Jani, and J. Roldan, “Identification of Organisational Models for
the Provision of Predictive Genomic Applications,” 2020, pp. 95–116. doi:
https://doi.org/10.1007/978-3-030-52399-2_6. Available:
https://www.researchgate.net/publication/347112391_Identification_of_Organisational_Models_for_th
e_Provision_of_Predictive_Genomic_Applications
Organizational
Models in
Genomics

Integrating
Genetics into
Medical
Specialities: Public
Health
Professionals
Preparedness
Organizational Models for Genomics [8]
➔Rosso and team (2017) explored public health professionals
preparedness to incorporate genomics into practice.
Researchers discovered a positive attitude in this regard,
however knowledge of public health genomics (PHG) must be
increased. Researchers also found that those involved in PHG
activities have more knowledge & positive attitude. To close
gaps, stronger knowledge exchange among professionals is
required.

52. The Conversation:
Definition of EFPIA Precision Medicine Working Group
© 2025 Safia Fatima Mohiuddin

53. What is Precision Medicine?

[9]N. Trehan, “Predictive precision medicine will shape the future of health care,” Hindustan Times,
2024. Available:
https://www.hindustantimes.com/opinion/predictive-precision-medicine-will-shape-the-future-of-he
althcare-101712508017033.html
EFPIA Precision
Medicine
Working Group
- Precision
Medicine
Definition
Predictive Precision Definition [9]
➔According to the definition by EFPIA Precision Medicine Working
Group, “Precision Medicine is a healthcare approach that utilizes
molecular information (genomic, transcriptomic, proteomic,
metabolic etc), phenotypic & healthcare data from patients to
generate care insights & prevent or treat human disease
resulting in improved health outcomes.”
➔Precision medicine is based on an increased understanding of
molecular mechanisms of disease; patients can be grouped
according to who can benefit from a specific treatment.
➔This implies that patients with same clinical diagnosis or
symptoms exhibit different responses to the same treatment.
➔Precision medicine targets treatments that are more likely to
benefit patients in contrast to the “one-size-fits-all” approach.

54. What is Precision Medicine?

[9]N. Trehan, “Predictive precision medicine will shape the future of health care,” Hindustan Times,
2024. Available:
https://www.hindustantimes.com/opinion/predictive-precision-medicine-will-shape-the-future-of-he
althcare-101712508017033.html
EFPIA Precision
Medicine
Working Group
- Precision
Medicine
Definition
Predictive Precision Definition [9]
➔Targeted therapies rely on patient characteristics i.e. biomarkers
that either indicate pathological processes or response to
treatment. These are biological traits that can be genetic,
indicate substance levels in the blood, or imaging markers.
➔Diagnostic tools determine patient biomarker status such as
companion diagnostic text or next generation sequencing. They
determine whether patients will benefit from a specific medicine
or are at risk of severe side effects.
➔Increased biomarker knowledge drives use of broader tests,
allowing precise treatment decisions & monitoring.
Biomarker testing for precision medicine relates to a complex
health ecosystem - hospitals, physicians, patients,
pharmaceutical companies, laboratories, patient organizations,
universities, government, public-private partnerships, health
technology assessment bodies & regulators.

55. What is Precision Medicine?

[9]N. Trehan, “Predictive precision medicine will shape the future of health care,” Hindustan Times,
2024. Available:
https://www.hindustantimes.com/opinion/predictive-precision-medicine-will-shape-the-future-of-he
althcare-101712508017033.html
EFPIA Precision
Medicine
Working Group
- Precision
Medicine
Definition
Predictive Precision Definition [9]
➔The importance of precision medicine is giving the right
treatment to the right person at the right time to ensure
better outcomes. Precision medicine approaches reduce
adverse effects & risk as well as costs. It improves
sustainability & efficiency of healthcare systems.

56. What is Precision Medicine?

[9]N. Trehan, “Predictive precision medicine will shape the future of health care,” Hindustan Times,
2024. Available:
https://www.hindustantimes.com/opinion/predictive-precision-medicine-will-shape-the-future-of-he
althcare-101712508017033.html
EFPIA Precision
Medicine
Working Group
- Precision
Medicine
Definition
Predictive Precision Definition [9]
Categories of Classifying Precision Medicine Benefits

1.Delivering better treatment to patients - improved
efficiency (patient more likely to receive medicine
delivering clinical benefit), improved overall survival &
reduced adverse events.
2.Delivering benefits to healthcare systems & society -
prevention, prediction of disease, improvement in patient
management of diseases, prevention or delay of more
expensive care costs & allowing scarce healthcare
resources to be used most efficiently, reduced
hospitalization.
3.More effective clinical trials, efficient clinical trials & cost
reduction, more ethical clinical trials.

57. What is Precision Medicine?

[9]N. Trehan, “Predictive precision medicine will shape the future of health care,” Hindustan Times,
2024. Available:
https://www.hindustantimes.com/opinion/predictive-precision-medicine-will-shape-the-future-of-he
althcare-101712508017033.html
EFPIA Precision
Medicine
Working Group
- Precision
Medicine
Definition
Predictive Precision Definition [9]
Important Terms Defined by EFPIA Precision Medicine Working Group

➔Biomarker - Biological characteristic that is objectively
measured and evaluated as an indicator of biological processes -
any molecule in the body that can be measured to assess health.
➔Molecules can be derived from body fluids, blood, or tissue.
➔Biomarker test is a biochemical measurement developed to
quantitate one or several biomarkers for the screening diagnosis
&/or prognosis of cancer patients.
➔Next generation sequencing (NGS) is large-scale DNA
sequencing technology in which millions of nucleotide
sequences are deciphered simultaneously. NGS allows for
querying the whole genome i.e. exons within known genes
(whole exome) & exons for selected genes (targeted panel).

58. The Conversation:
UCSF Precision Medicine in Action
© 2025 Safia Fatima Mohiuddin

59. What is Precision Medicine?
[10]“Precision Medicine in Action,” www.youtube.com, 2021. Available:
https://www.youtube.com/watch?v=ZXFuQJgA3WY
UCSF Precision
Medicine in
Action

Precision medicine
- process,
personalization,
stakeholders, &
research

Precision Medicine Application [10]
➔Precision medicine is a dynamic process that enhances
understanding of health & disease. It uses large amounts of
data to enhance knowledge of biological mechanisms either
leading to illness or in order to protect health.
➔As the knowledge network grows, it delivers insights & leads to
better prevention, enhanced diagnosis & more effective
treatments. All of these are personalized.
➔Researchers, clinicians, patients, & community - all contribute
to precision medicine, adding knowledge & data.
➔The three broad classes of scientific research in precision
medicine are basic & molecular science, population science, &
clinical discovery.

60. What is Precision Medicine?
[10]“Precision Medicine in Action,” www.youtube.com, 2021. Available:
https://www.youtube.com/watch?v=ZXFuQJgA3WY
UCSF Precision
Medicine in
Action

Precision Medicine
tools, knowledge
network, ethics, &
community health

Precision Medicine Application [10]
➔Researchers use high technology tools - imaging,
computational or digital health technology, & omics.
➔Information generated flows into information commons
(shared repository of data, tools, and models). Information
commons is fuel for knowledge network where different types
of data are structured into layers - layers make it possible to
discover connections & patterns, in addition to revealing impact
on health or disease.
➔Ethics & engagement is integral to all elements.
➔For precision medicine to succeed, no one must be left out or
disadvantaged & everyone’s privacy must be respected.
➔Process begins & ends with people - researchers & clinicians
make new discoveries, patients receive more precise diagnosis &
treatment, & community health improves.

61. What is Precision Medicine?
[10]“Precision Medicine in Action,” www.youtube.com, 2021. Available:
https://www.youtube.com/watch?v=ZXFuQJgA3WY
UCSF Precision
Medicine in
Action

“Precision
medicine is a
dynamic, ongoing
process”
Precision Medicine Application [10]
Example of a person who gets diagnosed with COVID:
Person gets
diagnosed
with COVID
Social
worker helps
with clinical
appointment
& provides
supporting
resources
Contact tracer calls
person to find out where
they were infected &
who else is at risk.
Contact tracing is easy
with mobile apps - to
trace movement &
contact with others
This data is used by
population
scientists to monitor
infection spread &
keep health officials
in community
informed for them to
act appropriately
Community
organizers
ensure high-risk
populations get
free testing in a
convenient
location
Sample sent to lab for
molecular testing (uses
powerful technologies
to detect minute
amounts of genetic
material)
At the
examination
clinic

62. What is Precision Medicine?
[10]“Precision Medicine in Action,” www.youtube.com, 2021. Available:
https://www.youtube.com/watch?v=ZXFuQJgA3WY
UCSF Precision
Medicine in
Action

“Precision
medicine is a
dynamic, ongoing
process”
Precision Medicine Application [10]
Example of a person who gets diagnosed with COVID:
Chest X-Ray is taken & healthcare provider checks if
they are eligible for clinical trial to test a new treatment
(based on new discoveries of viral infection &
transmission, made by basic scientists). This
information is used by clinical researchers to test
whether infection in humans can be blocked. Health
provider discusses clinical trial with patient to help
them understand benefits & risks. Data from DNA
sample, digital health tool, imaging DB containing chest
X rays & EHR are added to knowledge network via
information commons. Patient health data is shared
only with trusted health partners in a secure &
respectful way. When research from clinical trials
shows promise, results are published in medical
literature so scientists, clinicians, & patient
communities across the world can learn from it.
At the
examination
clinic

63. The Conversation:
Precision Medicine Expert Opinion - Rao (2018)
© 2025 Safia Fatima Mohiuddin

64. What is Precision Medicine?
[11]G. Rao, “Predictive, Preventive and Precision Medicine: The Future of Healthcare,” vol. 1, no. 1, pp.
1–3, 2018, doi: https://doi.org/10.31031/IOD. Available:
https://www.researchgate.net/publication/334811950_Predictive_Preventive_and_Precision_Medicine
_The_Future_of_Healthcare
Predictive,
Preventive, and
Precision
Medicine
Precision Medicine Expert Opinion [11]
➔Healthcare delivery is undergoing a paradigm-shift through the
adoption of integrated healthcare & new approaches to disease
diagnosis & management.
➔Capacity development is needed implement predictive,
preventive, & personalized medicine or precision medicine into
practice-capacity.

-Predict early onset of disease.
-Predict risk factors or clusters of risk factors for disease.
-Implement appropriate preventive strategies.
-Integrate available technologies to deliver precision medicine.

65. What is Precision Medicine?
[11]G. Rao, “Predictive, Preventive and Precision Medicine: The Future of Healthcare,” vol. 1, no. 1, pp.
1–3, 2018, doi: https://doi.org/10.31031/IOD. Available:
https://www.researchgate.net/publication/334811950_Predictive_Preventive_and_Precision_Medicine
_The_Future_of_Healthcare
Predictive,
Preventive, and
Precision
Medicine
Precision Medicine Expert Opinion [11]
➔

➔Oxidative stress, altered hemodynamic functioning, chronic &
acute inflammation, excess weight, hypertension, endothelial
dysfunction (artery hardening), obesity, vascular disease, Type II
diabetes have reached epidemic levels on a global scale. CVD is
the number one killer globally, in spite of decline observed in
CVD deaths.
➔Metabolic diseases (chronic, multifactorial) risk work in concert
to promote a chain of events leading to acute vascular events
- heart attack & stroke.
➔The solution - early detection of early metabolic risks + robust
management of observed risks.
Example of Metabolic Disease Epidemic

66. What is Precision Medicine?
[11]G. Rao, “Predictive, Preventive and Precision Medicine: The Future of Healthcare,” vol. 1, no. 1, pp.
1–3, 2018, doi: https://doi.org/10.31031/IOD. Available:
https://www.researchgate.net/publication/334811950_Predictive_Preventive_and_Precision_Medicine
_The_Future_of_Healthcare
Predictive,
Preventive, and
Precision
Medicine


Precision Medicine Expert Opinion [11]
➔In 2015, Obama announced Precision Medicine Initiative with
two goals - [1] near-term focus on cancers [2] long-term aim to
generate knowledge applicable to a whole range of health &
disease - voluntary participation of one million Americans in
collecting behavioral data & characterizing biological specimens
linked to EHRs. Qualified researchers with privileges access data.
➔The use of Genome Wide Association Studies (GWAS) to
understand gene-environment interactions is controversial -
SNPs may explain only a fraction of heritability of complex traits.
➔T2DM research can now identify aromatic free amino acids &
BCAA as predictors of future diabetes & insulin resistance.
➔Japanese research on non-diabetic adults (2005-2016) found
raised BMI & fasting glucose & impaired insulin sensitivity upto
10 years before diabetes/pre-diabetes diagnosis.

67. What is Precision Medicine?
[11]G. Rao, “Predictive, Preventive and Precision Medicine: The Future of Healthcare,” vol. 1, no. 1, pp.
1–3, 2018, doi: https://doi.org/10.31031/IOD. Available:
https://www.researchgate.net/publication/334811950_Predictive_Preventive_and_Precision_Medicine
_The_Future_of_Healthcare
Predictive,
Preventive, and
Precision
Medicine


Precision Medicine Expert Opinion [11]
➔Researchers concluded that elevated metabolic markers for
diabetes are detectable more than 20 years before diagnosis.
➔Obesity & excess weight are indicated by early biomarkers of
oxidative stress & acute or chronic inflammation.
➔Early biomarker screening helps clinicians develop early
prediction capabilities & appropriate preventive strategies for
personalized medicine.
➔Rasmussen Center for Prevention of Cardiovascular Disease at
the University of Minnesota performed a noninvasive
cardiovascular evaluation for 18 years in individuals with no
CVD history. A 10-point non-invasive diagnostic test evaluation
over a year provided a comprehensive severity assessment of
structural & functional abnormalities in small arteries & the left
ventricle - the target organs of cardiovascular events.

68. The Conversation:
Precision Medicine in Public Health
© 2025 Safia Fatima Mohiuddin

69. What is Precision Medicine?
[12]Mathias Egermark, H.-H. Lei, M. Griffin, and Prof. P. Tan, “Precision Medicine and Public Health: a
proactive approach,” Healthcare Transformers, 2022. Available:
https://healthcaretransformers.com/healthcare-business/strategy-and-operations/precision-medicin
e-public-health/
Precision
Medicine in
Public Health
Precision Medicine in Public Health [12]
➔Precision public health aims to find the right intervention, for
the right population, at the right time.
➔Implementing precision public health requires significant data &
computing power for appropriate population-level interventions.
Generating rich datasets requires significant human resources,
trust, & high-quality standardized processes.
➔Programs, education & science ensure population health
promotion to prevent, detect & treat chronic/infectious disease.
➔Diagnostic testing infrastructure & data-driven
decision-making can detect, contain & direct health resources
where needed.
➔Precision medicine personalized therapeutic approaches
entail highly specific diagnosis & personal information, leading to
tailored treatment to meet individual patient needs.

70. What is Precision Medicine?
[12]Mathias Egermark, H.-H. Lei, M. Griffin, and Prof. P. Tan, “Precision Medicine and Public Health: a
proactive approach,” Healthcare Transformers, 2022. Available:
https://healthcaretransformers.com/healthcare-business/strategy-and-operations/precision-medicin
e-public-health/
Precision
Medicine in
Public Health
Precision Medicine in Public Health [12]
➔Precision public health involves the right intervention at the
right time, every time, for the right population.
➔Massive population data informs precision public health.
Unifying data sources allows precise prediction & interventions.
--------------------------------------------------------------------------------
➔While design data is retrieved from clinical trials, organic data is
retrieved from EHRs & wearables. Organic data & advanced
computing power lead to
-[1] best population-level interventions
-[2] detailed maps of increased disease prevalence at scale
-[3] incidences as they happen.
--------------------------------------------------------------------------------
➔Dataset is multiethnic & will assist in the development of
analytical precision genomics tools to predict & intercept
disease at an early stage.

71. What is Precision Medicine?
[12]Mathias Egermark, H.-H. Lei, M. Griffin, and Prof. P. Tan, “Precision Medicine and Public Health: a
proactive approach,” Healthcare Transformers, 2022. Available:
https://healthcaretransformers.com/healthcare-business/strategy-and-operations/precision-medicin
e-public-health/
Precision
Medicine in
Public Health
Precision Medicine in Public Health [12]
➔The three horizons to achieving precision public health are:
-[1] Build digital infrastructure workflows & partnerships.
-[2] Develop analytics & data-driven decision-making.
-[3] Create digital-first models that can predict & prevent disease.
--------------------------------------------------------------------------------
➔PRECISE-SGLOOK population cohort study aims to collect
detailed baseline health information & biological specimens
from 100,000 participants to monitor long-term outcomes by
combining approaches linked to EHR.
➔Precision Health Research Singapore (PRECISE) can
coordinate government effort to implement 10-year National
Precision Medicine Strategy.
➔Hospitals & laboratories enable precision public health - rich
datasets with high-quality processes are generated towards
outcome, process, data, security & governance.

72. The Conversation:
J & J Opinion, Approach & Contribution to Precision Medicine


© 2025 Safia Fatima Mohiuddin

73. What is Precision Medicine?
[13]B. Brody, “Are Super-Personalized Solutions the Future of Healthcare?,” Content Lab U.S., 2023.
Available: https://www.jnj.com/innovation/are-super-personalized-solutions-the-future-of-healthcare
Johnson &
Johnson
Opinion,
Approach &
Contribution to
Precision
Medicine

J&J Opinion, Approach & Contribution [13]
➔When dIsease is treated using a one-size-fits-all approach, all
individuals may not respond. In contrast to prior drug
administration to populations, the present approach considers
expression of a genetic variant or biomarker in advance.
➔Precision medicine treatment innovation deduces individual
patient characteristics for inclusion in clinical trials &
therapies/treatments). Approved treatments are globally
adopted. Greater precision means greater success.
➔J&J is the partner, collaborator, & educator to change the
approach for testing & access for patients.
➔A simple example of precision medicine is receiving transfusion
based on blood type.
➔Precision medicine research uses targeted therapies based on
genetic variation (carried by a select subset of patients).

74. What is Precision Medicine?
[13]B. Brody, “Are Super-Personalized Solutions the Future of Healthcare?,” Content Lab U.S., 2023.
Available: https://www.jnj.com/innovation/are-super-personalized-solutions-the-future-of-healthcare
Johnson &
Johnson
Opinion,
Approach &
Contribution to
Precision
Medicine
J&J Opinion, Approach & Contribution [13]
➔Absence of science and technology prevented targeted
therapies. However, precision medicine targets the right test, at
the right time, for the right treatment to raise chances of the
best outcome.
➔J&J targeted therapy of 2019 focused on advanced or
metastatic urothelial carcinoma & received FDA approval.
➔J&J refines novel treatments for disease for other areas of
oncology, immune & cardiovascular systems, pulmonary
hypertension, neurological system & infectious disease.
➔J&J has developed targeted therapies in prostrate cancer &
non-small cell lung cancer.
➔Beyond new treatments, it is critical to find out if diagnostic tests
that reveal if a patient will respond to a targeted therapy already
exist or are available to patients at the same time.

75. What is Precision Medicine?
[13]B. Brody, “Are Super-Personalized Solutions the Future of Healthcare?,” Content Lab U.S., 2023.
Available: https://www.jnj.com/innovation/are-super-personalized-solutions-the-future-of-healthcare
Johnson &
Johnson
Opinion,
Approach &
Contribution to
Precision
Medicine
J&J Opinion, Approach & Contribution [13]
➔In X-linked retinitis pigmentosa (XLRP), a defective gene
RPGR, leads to vision problems in adolescence & loss of vision in
midlife. The inherited trait runs in families. Gene occurs in males
on X chromosome. Scientists have found out how to give an
extra gene working copy to restore function & preserve vision.
➔J&J developed targeted diagnostic tests with Roche & Illumina
& made them commercially available to improve patient access.
Diagnostic tests & targeted treatment are paired to check
specific genetic variant, determine gene expression & quantify
proteins or enzymes produced from genes. For eg: breast cancer
tumor biopsy is a diagnostic test to find tumor type, its
properties, & availability of targeted therapy to treat it. However,
if there are other types of cancers, the test becomes difficult. J&J
solved this problem with a liquid biopsy-based test.

76. What is Precision Medicine?
[13]B. Brody, “Are Super-Personalized Solutions the Future of Healthcare?,” Content Lab U.S., 2023.
Available: https://www.jnj.com/innovation/are-super-personalized-solutions-the-future-of-healthcare
Johnson &
Johnson
Opinion,
Approach &
Contribution to
Precision
Medicine
J&J Opinion, Approach & Contribution [13]
➔A test has to be accurate & reliable. When a test does not work
properly, patients may not be able to access a beneficial therapy,
or be subjected to side effects without any benefits.
➔Speed matters & patients/physicians need answers about what
treatment will work for them & what treatment course to pursue.
--------------------------------------------------------------------------------
➔New precision medicine treatment have barriers to access:
-[1] Testing is the primary barrier.
-[2] Delays in awareness & adoption; patients receive less
effective treatment until approval or education.
-[3] Changing old protocols is difficult.
--------------------------------------------------------------------------------
➔Current standard of care in prostrate cancer is chemotherapy. J&J
launched new targeted therapy for prostrate cancer.

77. What is Precision Medicine?
[13]B. Brody, “Are Super-Personalized Solutions the Future of Healthcare?,” Content Lab U.S., 2023.
Available: https://www.jnj.com/innovation/are-super-personalized-solutions-the-future-of-healthcare
Johnson &
Johnson
Opinion,
Approach &
Contribution to
Precision
Medicine
J&J Opinion, Approach & Contribution [13]
➔Time is a critical factor in treatment planning. For eg: cancer
can progress & metastasize.
➔J&J informs physicians to test patients & find targeted therapy
candidates. Some physicians wait until first-line treatment fails.
➔J&J advocates testing early for physicians to make an informed
decision about first-line treatment.
➔Pathologists & oncologists must consider testing during
treatment. This requires finding evidence to determine its value.
➔J&J generates evidence to break down barriers across multiple
stakeholder groups, & accelerate consideration/availability of
novel precision medicine therapeutics.
➔Diseases have subtypes, & drugs have responders &
non-responders. Scientific developments make care tailored to
conditions possible.

78. The Conversation:
Precision Medicine Expert Opinion - Ramos (2019)
© 2025 Safia Fatima Mohiuddin

79. What is Precision Medicine?
[14]K. S. Ramos, E. C. Bowers, M. A. Tavera-Garcia, and I. N. Ramos, “Precision prevention: A focused
response to shifting paradigms in healthcare,” Experimental Biology and Medicine, vol. 244, no. 3, pp.
207–212, 2019, doi: https://doi.org/10.1177/1535370219829759
Precision
Prevention
Expert Review

Diagnostic Tool
Advancements for
Early Detection
and Stratification
Precision Prevention Expert Review [14]
➔Health & disease rest on the combined effects of molecules,
environment & lifestyle to define phenotypic outcomes.
➔RNA research & not just DNA research must be integrated
into exploring precision medicine to understand complexities of
biological regulation, influenced by proteins & metabolites.
➔The practice of medicine evolved from symptom-based
diagnosis & treatment model to integration of disease
patterns using computer algorithms & Artificial Intelligence.
➔This evolution in the form of evidence-based practice had not
just defined standards of care but also initiated practices now
recognised as precision medicine.
➔Environmental exposures or exposomics are integrated into the
study of human disease. They explain how lifetime exposures
relate to health & are important for prevention.

80. What is Precision Medicine?
[14]K. S. Ramos, E. C. Bowers, M. A. Tavera-Garcia, and I. N. Ramos, “Precision prevention: A focused
response to shifting paradigms in healthcare,” Experimental Biology and Medicine, vol. 244, no. 3, pp.
207–212, 2019, doi: https://doi.org/10.1177/1535370219829759
Precision
Prevention
Expert Review

Diagnostic Tool
Advancements for
Early Detection
and Stratification
Precision Prevention Expert Review [14]
➔Evolutionary shifts in healthcare practice lead to
non-sustainable healthcare costs, suboptimal efficiencies in
clinical practice, creation of interdisciplinary teams &
technological advances. Other challenges are reframing patient
expectations with increased emphasis on disease prevention.
➔To curtail healthcare spending, precision healthcare focuses
on disease prevention & relies on the availability of screening
approaches to identify those with increased susceptibility.
➔Few precision prevention approaches exist in clinical practice.
Assay development with sensitivity/specificity is required.
➔Epigenome depends on malleable factors - stress, diet, life
history. Environment is the arbiter of health/disease.
➔Precision medicine advances depend on genomic science.
Current understanding of genetic function applies to less than
2% of the genome. The role of non-coding region is unknown.

81. What is Precision Medicine?
[14]K. S. Ramos, E. C. Bowers, M. A. Tavera-Garcia, and I. N. Ramos, “Precision prevention: A focused
response to shifting paradigms in healthcare,” Experimental Biology and Medicine, vol. 244, no. 3, pp.
207–212, 2019, doi: https://doi.org/10.1177/1535370219829759
Precision
Prevention
Expert Review

Diagnostic Tool
Advancements for
Early Detection
and Stratification
Precision Prevention Expert Review [14]
➔Current understanding of susceptibility & non-communicable
diseases originates from DNA (hardware) or epigenetics
(software) that controls its use. In addition, is the role of nascent
RNA molecules & proteins.
➔ENCODE (Encyclopedia of DNA Elements) followed Human
Genome Project, relying on genome-wide datasets of histone
modifications, transcription factor binding sites, 3D chromatin
interactions, DNase I hypersensitivity & more.
➔Health, disease & susceptibility are not explained by genetic
polymorphisms. They involve complex interactions mediated
by non-coding regions & epigenome.
➔95% genome is within 8 kb of a DNA-protein interactions -
extensive & ubiquitous with a biologically significant role.
➔Epigenome & gene-environment interactions define gene
expression. Genetics have an impact on polygenic traits.

82. What is Precision Medicine?
[14]K. S. Ramos, E. C. Bowers, M. A. Tavera-Garcia, and I. N. Ramos, “Precision prevention: A focused
response to shifting paradigms in healthcare,” Experimental Biology and Medicine, vol. 244, no. 3, pp.
207–212, 2019, doi: https://doi.org/10.1177/1535370219829759
Precision
Prevention
Expert Review

Diagnostic Tool
Advancements for
Early Detection
and Stratification
Precision Prevention Expert Review [14]
ENCODE Findings

➔80.4% of the human genome participates in biochemical
RNA &/or chromatin-associated event in at least one cell type.
1% DNA is protein coding & large part of the genome is utilized
in other functions. Junk DNA may have a biochemical function.
➔Different cell types have unique patterns of DNase I
hypersensitivity & transcription factor binding. DNA-protein
interactions are important in determining cell phenotype, which
have implications for disease, biotechnology & therapeutics.
➔Majority of the genome is transcribed, including non-coding
regions & those regarded transcriptionally silent. Gene products
of “silent” regions may have more important biological roles.
➔SNPs linked to disease may be found in non-coding functional
regions & may alter gene regulation & influence expression.

83. What is Precision Medicine?
[14]K. S. Ramos, E. C. Bowers, M. A. Tavera-Garcia, and I. N. Ramos, “Precision prevention: A focused
response to shifting paradigms in healthcare,” Experimental Biology and Medicine, vol. 244, no. 3, pp.
207–212, 2019, doi: https://doi.org/10.1177/1535370219829759
Precision
Prevention
Expert Review

Diagnostic Tool
Advancements for
Early Detection
and Stratification
Precision Prevention Expert Review [14]
ENCODE Findings

➔DNA can be categorized into seven chromatin states with
varying functions. Promoter transcriptional activity correlates
quantitatively to chromatin state & transcription binding at
promoters. Functional regions can be assigned to the genome
on chromatin landscape to understand gene expression patterns
in health/disease, where DNA sequence information is limited.
➔Non-coding DNA regulates protein-coding gene expression
through long-range interactions - genomic proximity is not its
predictor. Non-functional DNA regulates coding region
expression regardless of gene proximity.
➔ENCODE unraveled advanced precision medicine strategies
to address complex disease challenges and health disparities.

84. The Conversation:
PMI Precision Prevention
© 2025 Safia Fatima Mohiuddin

85. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
➔Precision medicine is a model that customizes healthcare with
medical decisions, treatment practices & products.
➔It uses genetic, lifestyle & environmental factors to guide
decisions on prevention, diagnosis & treatment of disease.
➔Precision medicine seeks to identify most effective treatment
strategies based on genetic makeup & personal factors.
➔Preventive healthcare refers to measures taken to prevent
disease rather than treating symptoms. Actions like routine
screenings, check-ups, lifestyle changes, vaccinations reduce
risk of developing illness (diabetes, heart disease, cancer). The
goal is to maintain health & well-being, prevent disease onset
& detect early when they are treatable.
➔Precision medicine & preventive health have complementary
roles to enhance overall health & well-being of individuals.

86. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
➔Personalized risk assessment is a more accurate assessment
based on environment, genetics & lifestyle factors. Providers
recommend personalized preventive measures. For eg; genetic
testing reveals cancer type predisposition & the patient chooses
frequent screening & lifestyle changes to mitigate risks.
➔Targeted prevention strategies are preventive healthcare
tailored to each person. Patients receive specific
recommendations, likely to be effective. For eg: a person
genetically predisposed to high cholesterol benefits from
personalized diet & exercise, to manage cholesterol effectively.
➔Early detection & intervention works at the molecular level,
before symptoms appear. Prompt preventive health measures
prevent disease progression & early intervention to improve
prognosis. This reduces the need for aggressive treatments.

87. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
➔Optimizing screening programs involves refining screening
programs to identify at-risk individuals - those most likely to
benefit from early detection. Screening programs are efficient &
reduce unnecessary procedures for low-risk individuals.
➔Empowering patients involves providing individuals with
detailed information on health risks & preventive measures. It
empowers patients to take an active role in healthcare, leading
to better health outcomes & engagement in health behaviors.
➔Personalized, targeted, effective approach to disease
prevention involves integrating lifestyle, genetic &
environmental data. Healthcare providers develop customized
prevention & treatment plans. This optimizes health outcomes &
reduces the burden of chronic disease.

88. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Example of Preventing Cardiovascular Disease

➔CVD is the leading cause of mortality globally. Personalized
medicine offers success in CVD through personalized risk
assessments & tailored preventive strategies.
➔Framingham Heart Study entailed the understanding of CVD
risk factors incorporating genetic information.
➔This resulted in more precise risk models capable of identifying
high risk individuals for heart disease based on genetic profiles.
➔Personalized interventions include dietary recommendations,
exercise programs & plasma treatments (such as statins).
➔High-risk individuals successfully managed risk factors,
preventing heart disease onset & improving overall health
outcomes.

89. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Example of Personalized Preventive Care for Cancer

➔In cancer prevention & early detection, personalized medicine
has made significant strides. For eg: genetic testing of BRCA1 &
BRCA2 mutations in breast & ovarian cancer.
➔Precision medicine leads to development of targeted
surveillance programs. In individuals with high genetic risk,
regular screening & early detection leads to improved cancer
prognosis & survival rate.
➔Personalized preventive care leads to new hope for individuals
with cancer history or genetic predisposition.

90. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Example of Genetic Testing & Preventive Strategies in Hereditary
Disease

➔Genetic testing & precision medicine can prevent hereditary
diseases.
➔Notable labs use precision medicine to identify & manage
hereditary conditions such as Huntington’s disease, familial
hypercholesterolemia, & cystic fibrosis.
➔Comprehensive genetic testing can help individuals understand
genetic risk & develop personalized preventive strategies.

91. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Example of Genetic Testing & Preventive Strategies in Familial
Hypercholesterolemia

➔Familial hypercholesterolemia (FH) is a genetic disorder with
high cholesterol levels & genetic testing helps to identify
individuals with the condition.
➔Early diagnosis allows implementation of targeted preventive
measures (specific dietary changes, pharma treatments, lifestyle
modifications to manage high cholesterol levels).
➔Familial Hypercholesterolemia patients who receive personalized
care based on genetic profiles show significant improvements in
cholesterol management & overall cardiovascular health.

92. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Example of Precision Prevention in Prenatal & Preconception Testing

➔Prenatal and preconception testing helps prospective patients
understand the risk of passing on hereditary conditions.
➔This leads to informed reproductive choices in addition to
considering preventive measures such as in vitro fertilization
with genetic screening, which reduces risk of hereditary disease
in the offspring.

93. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
First Challenge: Access & Affordability - Ensuring equitable access
to precision preventive care.

The Difficulties Encountered:
Primary
challenge is to
integrate
precision
medicine into
preventive
healthcare.
Costs may be
associated with
genetic testing,
personalized
treatments,
advanced medical
technologies.

Prohibitively high
costs lead to
disparities in access to
precision healthcare
for underserved &
eco-disadvantaged
populations.

94. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
First Challenge: Access & Affordability - Ensuring equitable access
to precision preventive care.

The Possible Solutions:
Efforts are required to lower
cost for genetic testing &
personalized medical services.
Policy makers & healthcare
providers can together ensure
that precision medicine is
included in health insurance
coverage.

Public health initiatives are
funded to support equitable
access. Investment in
community-based models assists
in getting precision medicine to
underserved areas, ensuring that
all individuals have the
opportunity to benefit from
personalized preventive care.

95. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Second Challenge: Ethical Considerations - Addressing ethical
issues in genetic screening & risk.

Important Ethical Considerations:
The use of genetic screening &
risk assessment in precision
medicine has the potential for
genetic discrimination.
Individuals could be treated
unfairly because of genetic
information.
Unfair treatment may affect
employment, social interactions
& insurance coverage. Strong
legal & regulatory frameworks
are required to protect the
individual from genetic
discrimination.

96. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Second Challenge: Ethical Considerations - Addressing ethical
issues in genetic screening & risk.

Informed Consent & Data Privacy:
In informed consent, patients fully
understand genetic testing
implications & potential outcomes
of knowing genetic risks.
In protecting patient data &
maintaining privacy,
challenges exist in collection,
storage & genetic information
analysis. This requires robust
data security measures to
prevent unauthorized access
& potential misuse of sensitive
information.
Healthcare providers must ensure
that patients are well-informed &
consent is obtained in a clear &
transparent manner.

97. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Second Challenge: Ethical Considerations - Addressing ethical
issues in genetic screening & risk.

Data Protection Mechanisms of the Organization & Policy:
Healthcare organizations must
implement stringent data
protection protocols -
encryption, secure storage &
regular audits to safeguard
patient data.

Clear policies for data sharing are
required; patient consent ensures
patients have control i.e. who can
access their genetic information
& for what purpose.

98. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Second Challenge: Ethical Considerations - Addressing ethical
issues in genetic screening & risk.

Data Protection for the Provider & Patient:
Integration of
precision medicine
into healthcare
requires educating
providers &
patients on data
privacy.
Patients must be
informed about
how their data will
be used & that
measures are in
place to protect
privacy.
Healthcare providers
must be trained to
handle genetic data to
communicate
effectively with
patients about data
privacy concerns.

99. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Future Direction & Innovation 1: Advancements in genomics -
Genomic research & advancing preventive healthcare.

Genomic Research & Innovation:
Genomic research entails
genome mapping to
identify genetic variations
for disease & understand
complex gene -
environment interactions.
Insights lead to more
effective & precise
preventive strategies.
Future genomic innovations involve
[1] Development of more
comprehensive genetic panels to
detect a broader range of disease risks.
[2] Advancements in gene editing
such as CRISPR may be able to
connect genetic mutations that
predispose individuals to disease - a
revolutionary approach to prevention.

100. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Future Direction & Innovation 1: Advancements in genomics -
Genomic research & advancing preventive healthcare.

Genomics for Personalized Prevention:
[3] Understanding of genomics deepens & personalized medicine is
more tailored; healthcare providers design individualized
preventive measures; not only targeted pharmacological & lifestyle
interventions but personalized wellness & nutritional plans based on
individual makeup are developed.

101. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Future Direction & Innovation 2: Digital Health Integration - Use of
digital tools in preventive care.

Digital Health Tools & Wearables as Preventive Interventions:

Digital health tools
revolutionize preventive
care - more efficient,
accessible, personalized;
mobile health apps,
wearables & telemedicine
platforms monitor health
& deliver preventive
interventions.
Wearables (smart watches / fitness
trackers) collect continuous data -
heart rate, physical activity, vital signs,
& sleep patterns; real time data
identifies early signs of health issues; it
enables timely interventions - smart
watch detects sudden heart rate
variability & prompts seeking medical
advice to prevent a cardiac event.

102. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
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Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Future Direction & Innovation 2: Digital Health Integration - Use of
digital tools in preventive care.

Mobile Apps/Telemedicine for Remote Access to Personalized Care:
Mobile health apps provide
personalized health
recommendations i.e. medical/
appointment reminders, access
to health education resources &
tools that empower individuals
to take proactive approach,
adhere to preventive measures
& monitor progress overtime.
Telemedicine platforms
facilitate remote consultation &
make it easy for patients to
access healthcare services
without physical visits. It is
beneficial for preventive care &
allows regular check-ins & early
detection of health issues in
remote/underserved areas.

103. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
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PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Future Direction & Innovation 3: Global Initiatives - International
Efforts to Promote Precision Preventive Healthcare.

International Collaborations:
International efforts promote
precision preventive
healthcare on global scale.

Collaborative initiatives &
partnerships among countries,
organizations, research
institutions are essential in
advancement & accessibility.
WHO plays a pivotal role in
promoting precision preventive
healthcare, developing guidelines
for genetic testing, supporting
research on social/ethical
implications of precision medicine
& advocating policies that ensure
equitable access to genomic
technologies.

104. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Future Direction & Innovation 3: Global Initiatives - International
Efforts to Promote Precision Preventive Healthcare.

International Collaborations:
Global Alliance for Genomics &
Health (GA4GH) is an
international coalition to create
standards & frameworks,
responsible standards for sharing
genomic & health data, global
collaboration, accelerated
genomic research & development
of precision medicine applications.
Human Genome Project &
100,000 genome projects is
the foundation for large scale
genomics research. It provides
valuable data or insights that
drive advancement in precision
medicine.

105. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 1: Policy
Recommendations - Policies to Support Precision Preventive Care.

Policy & Funding:
To integrate precision
medicine into preventive
healthcare, comprehensive
policy recommendations are
essential - policies should
facilitate research, ensure
equitable access, promote
ethical standards.
Funding for Research -
Government & private institutes
must allocate funds to support
genomic research, develop new
technology, implement precision
medicine in preventive care,
advance scientific knowledge &
translate research findings into
practical applications.

106. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 1: Policy
Recommendations - Policies to Support Precision Preventive Care.

Insurance & Regulation:
Insurance Coverage - Develop
policies for genetic testing &
personalized preventive care in
health insurance plans. This
makes precision medicine
more accessible & affordable
for a broader population &
reduces disparities in
healthcare access.
Regulatory Frameworks -
Regulatory guidelines indicate
the use of genetic information
ethically & responsibly.
Individuals must be protected
from genetic discrimination.
Informed consent must be in
place for data sharing & genetic
testing.

107. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 1: Policy
Recommendations - Policies to Support Precision Preventive Care.

Precision Public Health:
Public Health Initiatives are
programs that incorporate
precision medicine approaches.
These include targeted screening
programs for high-risk populations,
initiatives designed to reach
underserved communities &
provide them with benefits of
precision preventive care.

108. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 2: Education &
Training - Educating healthcare providers & public about benefits.

Patient & Provider Training:
Both healthcare providers &
public must be informed
about benefits & practical
applications of precision
medicine.
Healthcare Provider Training
involves comprehensive training
programs for nurses, physicians,
genetic counsellors. Precision
medicine & applications of
preventive care entail training that
covers genetic testing,
interpretation of genetic data &
personalized prevention strategies.

109. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 2: Education &
Training - Educating healthcare providers & public about benefits.

Patient & Provider Training:

Continuing Medical
Education (CME)
incorporates precision
medicine topics into CME
programs & keeps healthcare
providers updated on latest
advancements & best
practices in the field.
Public Awareness Campaigns
educate individuals on potential
benefits of precision medicine.
Campaigns must focus on the
importance of genetic screening,
personalized preventive care & the
role of lifestyle & environmental
factors.

110. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 2: Education &
Training - Educating healthcare providers & public about benefits.

Patient & Provider Training:

Patient Education Materials -
Easy-to-understand educational
materials for patients must be
available. Research must explain
the process & benefits of
genetic testing, how to interpret
results & steps to take to reduce
health risks based on genetic
information.

111. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 3: Collaborative
Efforts - Encouraging collaboration.

Collaboration between Research, Policy & Provider:
Collaboration involves integrating
precision medicine into preventive
healthcare. Partnerships must be
encouraged between researchers,
policymakers & healthcare
providers to facilitate sharing of
knowledge, resources & best
practices.
Multidisciplinary teams
include primary care providers
(PCP), geneticists, specialists &
other healthcare providers
who develop & implement
personalized preventive care
plans. Teams address all
aspects of patient health.

112. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 3: Collaborative
Efforts - Encouraging collaboration.

Collaboration between Research, Policy & Provider:

Research collaborations
between research organizations,
academic institutions &
healthcare providers involve
conducting large-scale studies
& clinical trials. Collaborations
accelerate development of new
precision medicine technologies
& interventions.
Public-private partnerships
with non-profit organizations
cater to resource funding,
technology development &
precision medicine
implementation initiatives.
Partnerships leverage strengths
of each sector to achieve
common goals.

113. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Challenges & Barriers to Precision Prevention
Precision Prevention Implementation Strategy 3: Collaborative
Efforts - Encouraging collaboration.

Collaboration between Research, Policy & Provider:

Policy advocacy involves engaging
with policy makers to advocate policy
adoption that supports precision
medicine. Healthcare providers &
researchers provide valuable insights
& data to inform policy decisions &
ensure they align with goals of
improving public health through
precision preventive care.

114. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Conclusions
Enhanced Risk Assessment
- More accurate risk
assessment entails
evaluating genetic profile,
personal factors, detection of
potential health issues &
timely interventions.
Tailored Preventive
Interventions - Personal
preventive interventions
(customized lifestyle
recommendations, targeted
screening programs &
personalized pharmacological
treatments) are more
effective as they are tailored
to individual needs.

115. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Conclusions
Improved Health
Outcomes - Early detection
& personalized preventive
strategies lead to precision
medicine that improves
outcomes & reduces chronic
disease incidence. Patients
receive more effective
interventions to ensure
better overall health.
Cost Savings - Cost effective,
early detection interventions
reduce expensive treatment
for advanced disease & lower
overall healthcare costs.

116. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
Conclusions


Patient Empowerment -
Empowerment is to provide
detailed information on
health risks & personal
recommendations to
maintain health. A proactive
approach fosters greater
patient engagement &
adherence to preventive
measures.

117. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
The Future

➔Precision Medicine in preventive care has immense potential.
➔Genetic research makes it precise with broad risk assessment.
➔Gene editing innovations open new possibilities for correcting
genetic predispositions before diseases develop.
➔Digital tool integration (wearables, mobile health,
telemedicine) transform prevention with ongoing health
tracking, dynamic interventions & accessible preventive care.
➔On a global scale, international collaborations & initiatives drive
advancement & adoption of precision medicine. More countries
invest in genomic research & healthcare infrastructure. The
benefits of precision preventive care will become more widely
available to promote health equity. All stakeholders take
active steps to support this transformational approach.

118. What is Precision Medicine?
[15]“Precision Medicine and Preventive Healthcare,” Precisionmedicineinvesting.com, 2024. Available:
https://www.precisionmedicineinvesting.com/precision-medicine-and-preventive-healthcare
PMI Precision
Prevention

Precision Medicine
Investing (PMI)
Covers Precision
Prevention,
Personalized Risk
Assessment, Early
Detection, & more…
PMI Precision Prevention [15]
The Future

➔Policy makers develop, implement policies to support research,
ensure equitable access, protect against genetic
discrimination, advocate inclusion of genetic testing &
personalized preventive care in health insurance plans.
➔Precision medicine wil incorporate genetic testing &
personalized preventive strategies in clinical practice.
Providers educate patients on precision prevention benefits.
➔Researchers explore genetics of disease, develop new
technology/interventions, collaborate with providers/policy
makers & render research findings to practical applications.
➔Patients seek information on precision medicine, participate in
genetic screening, follow personalized prevention & engage in
proactive health management.

119. The Conversation:
UNICEF SDG3 Precision Health Overview with Child Focus
© 2025 Safia Fatima Mohiuddin

120. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
The Challenge

➔In spite of improvement in survival rate & nutrition in children in
recent decades, preventable & treatable diseases exist.
➔Africa & Oceania (exclusively Australia & New Zealand) has
highest mortality rates among 5-24 years olds (2021).
➔Malaria, diarrheal disease, HIV & tuberculosis accounted for
top ten diseases leading to child mortality (2019).

The Context

➔SDG3 2030: health/well-being is a fundamental human right.
➔Advances in medicine, science & technology offer precision
health as a new model of care in contrast to onesize-fits-all
approach to minimize negative effects.

121. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
The Summary

➔Precision health offers novel interventions to tackle persisting
communicable, non-communicable diseases affecting millions
of children & young adults.
➔Disease diagnosis & treatment will undergo change with the rise
of next generation diagnostic technologies, genomics
advances, gene editing & RNA therapeutics. Response to
malaria, tuberculosis, asthma, childhood cancer & HIV/AIDS is at
the forefront of this revolutionary change.
➔Current health inequities must not exacerbate if precision
health is to evolve successfully.

122. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
What Does Precision Health Accomplish?

➔Imbibes differences in people’s genes, environment &
lifestyle for treatment & prevention of conditions.
➔Leads to proactive personalized solutions to health problems
that integrate variability in genetic, behavioral,
socio-economic & environmental determinants.
➔Improves disease detection, prevention & management with a
comprehensive, personalized approach to promote longevity.
➔Characterized by 4Ps - Predictive (identify, understand intrinsic
& extrinsic risk factors), Preventive (address risk & protect
health before disease development), Personalized (optimize
greatments & interventions to individual needs), Participatory
(involve patients in decision-making process).

123. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
How Precision Health Contributes to Health Systems Strengthening

System Building Blocks
Precision Health
Overall
Goals/Outcomes
Service Delivery
Information
Medical products,
vaccines, technologies
Health Workforce
Financing
Leadership / Governance
Access
Coverage
Quality
Safety
Improved health
level & equity
Responsiveness
Social & Financial
Risk Protection
Improved
Efficiency

124. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
How Precision Medicine Relates to Precision Health

➔Precision medicine is a subfield within precision health.
➔Precision health emphasizes early detection & prevention of
disease before it strikes.
➔Precision medicine deals with disease management &
treatment after the disease occurs.
➔Precision health strengthens health systems by offering
holistic & personalized insights into internal & external disease
factors & responses & by introducing innovative medical
products, vaccines & health technology that improves health.

125. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
The Internal Environment

➔Knowledge of biological systems & interaction with evolution.
➔Internal biological underpinnings of health & disease.
➔The Human Genome Project & advancement in systems biology,
data science & bio technology enabled “omics” for molecular
profiling of diseases.
➔Omics is an emerging biology area involving assessment of
molecular systems - genomics, transcriptomics, proteomics,
metabolomics, epigenomics & microbiomics for rapid health &
disease discoveries.
➔Health is influenced by genetic code & post code (area code). It
involves onset, progression & recurrence of disease & is
influenced by biological information, the environment,
behavioral characteristics & socio-economic/cultural context.

126. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
The Impact

➔Research in biomarkers, genetics, multi omics, next-generation
diagnostic & wearable technology continually improves early
disease detection & development of personalized prevention.
➔Genomic surveillance for large scale virus detection, tracking
& control can have transformational impact for children.
➔Large-scale infectious disease epidemics expanded application
of genomic technology for pathogen sequencing during
infectious disease outbreaks & improved the capability to track
& understand pathogen transmission, evolution & interaction.
➔Data integration optimizes treatments to improve dosage &
reduce side effects. It accelerates drug & therapy
development by understanding health & disease mechanisms.

127. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
The Impact

➔The potential applications of precision medicine for children
& adolescents are in communicable (diarrhoeal diseases,
malaria, TB, HIV/AIDS, pneumonia) & non-communicable
(asthma, childhood cancer, rare disease such as sickle cell
anemia) diseases.
➔The speed of availability of COVID-19 vaccines has the potential
to apply precision public health at scale globally.
➔Expensive interventions raise the risk of increasing health
inequalities as a result of precision medicine.
➔The equitable approach to precision health is to consider two
core principles - to maximize benefits & mitigate
disadvantages.

128. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
The Opportunities

➔Transformational change in application & delivery of clinical
services acts as a catalyst to policies & initiatives guiding
translation of genomic & other precision health technology into
the public health system.
➔A life course approach to precision health with health
trajectories of individuals is influenced by a range of protective &
risk factors. This approach focuses on acting early in life course
to center children & adolescents in precision health.

129. What is Precision Medicine?
[16]“Key asks for 2020 SDG Voluntary National Reviews: SDG 3,” www.unicef.org. Available:
https://www.unicef.org/documents/sdg-issue-brief-3
UNICEF Office
of Innovations
SDG3 Precision
Health
Overview
Child Focus

“Ensure healthy
lives & promote
well-being for all at
all ages”
SDG3 Precision Health Definition [16]
The Opportunities

➔North-south & south-south cooperation & partnerships are
critical. Countries with significant capacity in precision health
research are encouraged/incentivized to collaborate with
underrepresented countries. Mutual learning experiences have
equitable arrangements for fair benefit sharing, sample handling
& respectful data.
➔Business model & value-chain innovations resolve tensions
between affordability & profitability. Precision health technology
& innovations are expensive & require upto 30 years of
intellectual & financing investment without guarantee of
success. Business models & incentives are required to improve
health equity & de-risk R&D investment.

130. The Conversation:
Precision Medicine Initiative (PMI)
© 2025 Safia Fatima Mohiuddin

131. What is Precision Medicine?
[17]A. Kaylor, “Defining Precision Medicine and Evaluating Its Healthcare Impacts,” Pharma Life
Sciences, 2022. Available:
https://www.techtarget.com/pharmalifesciences/feature/Defining-Precision-Medicine-and-Evaluatin
g-Its-Healthcare-Impacts
Precision
Medicine
Initiative

“Long-term, wide
scale research
program launched
by President
Barack Obama in
2015 ”
Precision Medicine Initiative [17]
The Elements of Precision Medicine

➔Personalized & individualized medicine.
➔An emerging disease prevention & treatment approach.
➔Incorporates individual genetic & environmental variability.
➔Accurate treatment prediction in certain groups for a disease.
➔Applications include cancer research & inherited disease.
➔Improves outcomes & lowers trial & error costs using
pharmacogenomics (genes’ effect on medication response).
➔Vast amounts of data needed to develop algorithms to
predict/treat disease based on sub-population characteristics.
➔Requires deep understanding of human genome, technology
upgrade, big data computing & healthcare consumer education.
➔The value of precision medicine is essential for advancing
patient empowerment & individualized care.

132. What is Precision Medicine?
[17]A. Kaylor, “Defining Precision Medicine and Evaluating Its Healthcare Impacts,” Pharma Life
Sciences, 2022. Available:
https://www.techtarget.com/pharmalifesciences/feature/Defining-Precision-Medicine-and-Evaluatin
g-Its-Healthcare-Impacts
Precision
Medicine
Initiative

“Long-term, wide
scale research
program launched
by President
Barack Obama in
2015 ”
Precision Medicine Initiative [17]
Precision Medicine Initiative - Barack Obama, 2015

➔Precision Medicine Initiative of 2015 is Obama’s long-term, wide
scale research program to revolutionize precision medicine,
generate scientific evidence & move it into clinical practice.
➔Multidisciplinary research to find new medical frontiers.
➔$215 million invested in 2016 budget for PMI.
➔NIH “All of Us” program invites over 1 million Americans to
volunteer genetic data, biological samples & other health
samples to build a historical, diverse health database.
➔Researchers use data to predict disease risk, understand
disease mechanism & improve diagnostic/treatment strategies.
➔Discovery of the human genome sequence improved
technology & biomedical analysis & made new extensive
dataset tools available for vast precision medicine research.

133. What is Precision Medicine?
[17]A. Kaylor, “Defining Precision Medicine and Evaluating Its Healthcare Impacts,” Pharma Life
Sciences, 2022. Available:
https://www.techtarget.com/pharmalifesciences/feature/Defining-Precision-Medicine-and-Evaluatin
g-Its-Healthcare-Impacts
Precision
Medicine
Initiative

“Long-term, wide
scale research
program launched
by President
Barack Obama in
2015 ”
Precision Medicine Initiative [17]
Precision Medicine Initiative - Barack Obama, 2015 - Applications

➔Cancer Research - Cancer patients receive genetic/molecular
profiling to detect mutations & determine prescription drug
class. For eg: in chronic myelogenous leukemia (CML), doctors
use Imatini D (Gleevec) for cancer cells with a certain genetic
makeup. This improves outcomes for patients with BCR-ABL
fusion protein in blood cells due to a shortened chromosome.
➔Epigenetic Alterations are heritable changes in DNA chemical
structure but not sequence due to a change in gene expression.
It can modulate stress response. PTSD is studied in combat
soldiers to advance precision in mental healthcare.
➔Tissue Engineering & Regenerative Medicine in precision
medicine includes organ-on-a-chip technologies & personalized
stem cell therapies.

134. The Conversation:
Popular Precision Medicine Definitions
© 2025 Safia Fatima Mohiuddin

135. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (PMI, NIH)

➔According to “Precision Medicine Initiative” - An emerging
approach for disease treatment & prevention that considers
individual variability in genes, environment & lifestyle.
➔According to NIH - The approach will allow doctors &
researchers to predict more accurately, the treatment &
prevention strategies for a disease that will work in groups of
people. This contrasts with one-size-fits-all approach, in which
disease prevention & treatment strategies are developed for the
average person, with less consideration to individual differences.
➔Obama White House Precision Medicine Mission Statement -
To enable a new era of medicine through research technology &
policies that empower patients, researchers & providers to work
together toward development of individualized care.

136. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (GSLC)

➔University of Utah Genetic Science Learning Center (GSLC) -
Factors from the environment including our physical
surroundings, our diet & our lifestyle also influences our health.
For eg: even if someone inherits genetic variations that make
them susceptible to skin cancer, they can decrease their chances
of getting cancer by protecting themselves from the sun.
Precision medicine involves understanding how factors from the
environment interact with genetic variations to influence health.
When combined with information about a person’s environment,
genetic information becomes even more powerful.

137. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (GSLC)

➔GSLC Precision Medicine View/Examples - Precision medicine
is more than treatment - prevention & screening are important:
-Identifying high risk patients for certain diseases before the
condition manifests.
-Evaluation tools to determine the most likely responsive
treatment for the patient.
-Screening strategies to spot early signs of disease before they
become symptomatic.
-Diagnostic tools to identify disease subtypes that require
different treatment methods.
-Tests for potential parents to determine whether they are
carriers of certain genetic diseases.
-Tools for disease management & recovery.

138. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

➔Center for DIsease Control (CDC) - The two layers of precision
medicine are:
-[1] prediction & prevention
-[2] treatment & management
--------------------------------------------------------------------------------
Prediction & Prevention
-Genetics plays a significant role & certain hereditary diseases
pose greater risk in patients with family history of the condition.
-Example: Heart Disease - Coronary artery disease (CAD) affects
an estimated 13 million Americans. Genes, lifestyle, environment
plays a role in CAD. High blood pressure affects 1 in 3 Americans.
Patients with HBP in the family have greater chance of
developing it at younger age. Age & overweight are risk factors.

139. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

-Example: Asthma - Environmental factors trigger asthma attack
(dust, mold, stress, pollen). Whether or not a person will develop
asthma is influenced by genetic factors. Having a direct family
member with asthma increases the risk.
-Example: Diabetes - Overweight & gestational diabetes are
both risk factors of diabetes. People with a diabetic sibling or
parent are much more likely to develop the disease.
-Example: Cancers - Women with blood relatives who had breast
cancer are more likely to develop the disease. Family history
must be known on both sides - maternal & paternal. Men & close
relatives who had or have prostate cancer are more likely to
develop the disease.

140. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

-Family history must be known & discussed with the doctor. The
doctor will recommend genetic testing counseling / testing. High
risk patients for a disease are recommended additional
screening measures. For eg: patients with a close relative
diagnosed with breast cancer at a young age may want to start
annual screening at an earlier age than the general population.
-Personal smart devices & smart apps record data on exercise,
nutrition, blood pressure, heart rate, medication, or doctor
advice. Applications supplement regularly scheduled check-ups.
Examples: [1] a smart device can detect atrial fibrillation & the
patient can pursue care at an urgent care center [2] social media
can describe different aspects of flu i.e. prevention, signs, risk,
complications & may encourage a person to take a flu shot.

141. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

-Genomic Testing - Genomic sequencing prevents further
spreading of infectious illness by identifying bacteria responsible
for the illness. Identifying the germ responsible for the illness
helps doctors determine the best treatment course. For eg: when
symptoms of food poisoning are presented after eating at a
restaurant, the doctor may advise to test stool for salmonella
bacteria & when tested positive, the doctor alerts the health
department. The health department performs a test on the stool
sample & determines they are from a strain that matches several
other confirmed cases. When all cases report eating papayas, the
fruit is removed from grocery stores & restaurants to prevent
additional cases.

142. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

Early detection of infections is possible through newborn
screening with blood tests & checks for hearing loss & heart
defects. It identifies potential life threatening conditions early to
save the baby’s life.

Sometimes, people at high risk of disease or their family have no
outward signs. Gene mutations are invisible & a person may be
at increased odds of developing the condition. Patients with
BRCA1 & BRCA2 gene mutations have an increased risk of
disease development. A person with a gene mutation that
increases chances of a disease must take preventive measures
to minimize risk earlier or undergo frequent screenings.

143. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

-High Risk Patients - Patients likely to develop certain conditions
must consider preventive measures for risk reduction. Different
techniques are recommended for different diseases:

Example: Heart disease - healthy diet, weight management,
regular exercise, prescribed medication, quitting smoking. HBP
patients follow the above tips, lower salt intake, limit alcohol,
manage stress & undergo regular BP screening.

Example: Asthma is hereditary & cannot be prevented but can
be managed if you avoid known triggers & use medication
appropriately.

144. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

Example: Diabetes - follow healthy diet, increase intake of fruits,
vegetables, lower sugar intake, exercise regularly, maintain
healthy weight.

Example: Breast Cancer - Monthly breast self-exams, receive
mammograms every year after age 40, consult doctor about
genetic testing, healthy diet, regular exercise, limit alcohol
consumption.

Example: Prostrate Cancer - Follow healthy diet, regular
exercise, provide exam after 50.

145. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

Treatment & Management - Precision medicine for patients
who already have a disease or illness:

Example: Tumors profiling or tumor genetic testing determines
best treatment strategy. It predicts likelihood of tumor returning.
For eg: in recurrent breast cancer, a woman may choose
aggressive treatment to reduce risk of recurrence.

Example: Pharmacogenomics inform the physician of the
body’s reaction to treatments for DNA analysis. In Tourette
syndrome, gene testing for CYP2D6 before prescribing Pimozide
determines how the body breaks down Pimozide. A patient with
a gene version that absorbs Pimozide slowly, gets a lower dose.

146. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (CDC)

Example: Diabetes - Insulin is used to regulate blood sugar
levels & make it more manageable. They use devices to monitor
insulin dose, arm sensors to monitor & measure blood sugar
levels, & observe eating habits that cause a change in blood
sugar levels.

Example: Mobile devices can predict, prevent & manage
existing conditions. Personal smart devices keep track of
exercise, diet, heart rate, sleep, medication & blood pressure.

147. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (Journal of Precision
Medicine)

➔Journal of Precision Medicine - The Four Goals of Practice:
[1] Improve Diagnostic Accuracy - After prevention, the next
step in precision medicine is making an an accurate diagnosis to
initiate accurate treatment. It is estimated that upto 5% US
adults received inaccurate diagnosis, 10% were patient deaths &
12% in-hospital adverse events.
-Lab tests were more accurate & precise in the majority of clinical
conditions.
-Standardization allows for additional consistency in
interpretation.
-Pharma system solution & lab automation add accuracy by
removing operation & manual handling risks.

148. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (Journal of Precision
Medicine)

[2] Reduce Unwanted Variations to enhance accuracy for
widespread precision medicine implementation. Variations in
quarter hospital costs accounts for 65% of healthcare costs.
-Building best practice standards along the continuum of care is a
prerequisite for consistent, evidence-based care. These key
levers reduce variations, adapt to patient’s individual needs &
reduce subjectivity of operators & physicians.
-Automation & assisted decision-making based on reproducible
technology enhances consistency. For eg: Total knee
replacement (TKR) patients with the shortest length of stay
(LOS) received preoperative Pregabalin resulting in better patient
outcomes (shorter LOS + $1 million in savings each year).

149. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (Journal of Precision
Medicine)

[3] Personalize When it Matters
-Patients requiring radiation undergo high-quality imaging, so the
radiation treatment course can be tailored specifically to their
autonomy & needs.
-Tumors can undergo liquid biopsies (use of blood samples rather
than traditional invasive biopsies). Liquid biopsies & genomic
analysis provides physicians with genomic makeup of circulating
DNA or cancer cells. It allows them to determine specific
treatment course on patient-by-patient basis.
-Personalized approaches improve financial & clinical outcomes.

150. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (Journal of Precision
Medicine)

[4] Advance Therapy Outcomes
-Minimally invasive surgeries performed with image guided
therapies allow more accurate procedure & reduce LOS & pain.
-The use of imaging to guide different treatments is the key to
advancement in precision medicine.
-New advancements in imaging technologies & modalities i.e.
ultrasound scan, MRI, CT scan, robotic technologies &
endoscopic cameras are precise procedures with improved
outcomes. Surgeons rely on CT & angiography for high
resolution imaging.
-Real-time imaging is performed in oncology, cardiology &
orthopedics.

151. What is Precision Medicine?
[18]K. D’Onofrio, “What Is Precision Medicine?,” Docwire News , 2023. Available:
https://www.docwirenews.com/post/docwire-blog-what-is-precision-medicine
Precision
Medicine
Definitions


Precision Medicine Definitions [18]
Popular Definitions of Precision Medicine (Journal of Precision
Medicine)

➔Precision Medicine in Practice - Case Report Takeaways:
-Precision medicine may be used to manage patients
post-operatively, assisting them in altering medication.
-Although genomic information is available to the patient, this
does not replace physician advice.
-Many specialities are already using precision medicine.
-Precision medicine spans the entire process, from genetics to
prevention, diagnosis, treatment & management.
-While information may be accessible, such as at-home DNA
testing, discussion with physicians is crucial prior to
decision-making for disease prevention, diagnosis & treatment.

152. The Conversation:
Precision Medicine & Artificial Intelligence Convergence
© 2025 Safia Fatima Mohiuddin

153. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
AI + Precision Medicine Convergence Promises to Revolutionize
Healthcare

➔Precision medicine methods identify patient phenotypes with
less common treatment response or unique healthcare needs.
➔AI leverages sophisticated computation & inference to generate
insights that enables the system to reason & learn. It empowers
clinician decision-making through augmented intelligence.
➔Translational research exploring this convergence will help solve
the most difficult challenges facing precision medicine.
-Interpreting nongenomic & genomic determinants.
-Combining information from patient symptoms, clinical history &
lifestyle.
-Facilitating personalized diagnosis & prognostication.

154. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Challenges in the Use of AI in Healthcare

➔Multimodal data integration.
➔Federated learning (requires fundamental advances in areas
such as large-scale machine learning, privacy, distributed
optimization).
➔Model performance & bias.

Three Main Principles of Successful Adoption of AI in Healthcare

➔Data & security - require trust and transparency.
➔Analytics & insights - purpose & people.
➔Shared expertise.

155. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
The Value of Shared Expertise

➔AI combines input from multiple structured & unstructured
sources at semantic level. These abilities may be used in
computer vision, reading comprehension, multimodal
applications & conversational systems to help health
professionals make informed decisions (eg: physician diagnosis).
➔Shared expertise has a complementary relationship with AI
systems trained by & supporting professionals.
➔The ability to create cutting-edge AI models & build high-quality
business applications requires skilled experts & access to latest
hardware.
➔Untapped data can have an impact on health & remains outside
the medical systems.

156. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
How Untapped data that Remains Outside Medical Systems has an
Impact on Health

➔Health is influenced by lifestyle, nutrition, environment & access
to care.
➔Behavioral & social determinants & exogenous factors can be
tracked & measured by wearables & medical devices.
➔These factors account for 60% health determinants - behavioral,
socio-economic, physiological & psychological data.
➔Genes account for 30% & actual medical history accounts for
10%.

157. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Features and Benefits of AI Systems

➔Big data is described by five Vs - volume, velocity, variety,
veracity & value.
➔Volume refers to complex, heterogeneous data.
➔Velocity is the speed of data movement.
➔Variety is the different types of structured, semi-structured &
unstructured data.
➔Veracity is the certainty, accuracy, relevance & predictive value
of data.
➔Value refers to the conversion of data into business insights.

158. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Examples of Machine Learning Models

➔FINDER - Real time detection of foodborne illnesses using
anonymous & aggregated web search & location data.
➔IBM Connect 360 & IBM Watson Care Manager is an integrated
data hub & care management solution.

159. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
AI in Precision Medicine for Personalized Care

➔AI can be used to design individual products, generate new
business models & create novel services.
➔AI can introduce social & ethical challenges to privacy, security
& human rights.
➔AI technologies may be purely virtual (deep-learning-based
health information management systems or active guidance of
physician in their treatment decisions) or cyber physical (robots
used to assist attending surgeon & targeted nanorobots for drug
delivery).
➔AI image-based diagnostic systems.
➔AI-enabled clinical decision support.
➔Augmented intelligence, which is the interplay between data,
computation & healthcare providers.

160. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
The Four Main Characteristics of AI Systems that Allow us to Perceive
it as Cognitive

➔Understanding - Reading, processing, interpreting available
structured & unstructured data at enormous scale & volume.
➔Reasoning - Understand entities & relationships, draw
connections, purpose hypothesis, derive inference, & evaluate
evidence to interpret language of health & medicine.
➔Learning - Learning happens from the real world & human
experts by collecting feedback, learning from outcomes at all
system levels/granularities & improving with time/experience.
➔Empowering - Promote interaction between clinicians & users &
provide a more integrated experience in a variety of settings.
Combining dialog, visualization, collaboration & delivering
previously invisible data & knowledge into actionable insights.

161. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Example of Human Capabilities & AI

➔AI & human capabilities can provide actionable insights into
oncology, imaging & primary care.
➔A breast cancer predicting algorithm trained on 38,444
mammogram images from 9,611 women was the first to
combine imaging & EHR data with associated health records.
-The algorithm can predict biopsy malignancy & differentiate
between normal & abnormal screening results.
-It assesses breast cancer with radiologist-like accuracy.
-It can potentially reduce missed diagnosis of breast cancer.
-ML & deep-learning-model trained on dataset of linked
mammograms & health records may assist radiologists in breast
cancer detection as a second reader.

162. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Perspective on Precision Medicine (A Healthcare Movement)

➔According to the National Research Council, it is “a new
taxonomy of human disease based on molecular biology”.
➔Revolution in healthcare triggered by knowledge gained from
sequencing the human genome.
➔The intersection of multi-omics data combined with medical
history, environmental knowledge, social/behavioral
determinants characterize health states, disease states,
therapeutic options for affected individuals.
➔Offers healthcare providers the ability to discover & present
information that validates/alters trajectory of medical
decision - from relying on evidence for average patient to
relying on individual’s unique characteristics (personalized care).
➔Enabled by data analytics & data collection technologies.

163. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Examples of AI & Precision Medicine Convergence

➔Convergence of high-throughput genotyping & global EHR
adoption enables scientists to derive phenotypes from clinical/
biomarker data to justify treatment need or improve diagnosis.
➔Genotype guided treatment for correct Warfarin dose.
-Genotype-based drug guidelines for clinicians by The Clinical
Pharmacogenetics Implementation Consortium optimizes drug
therapies & genetic test results.
-Tumor Genomic profiling informs targeted therapy for
breast/lung cancer.
-Precision medicine allows precise/early diagnosis, risk prediction
for customized treatments to maximize safety & efficiency.
➔Individualized strategies require collection of biobank data in
the US, UK, Japan, & Australian Genomics Health Alliance.

164. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Challenges in AI & Precision Medicine Convergence

➔AI with precision medicine requires more work to test, validate
& change treatment practices.
-Challenges occur in adopting unified data formats.
-It may be difficult to obtain sufficient & high quality labeled data
for training algorithms.
-Regulatory, privacy & socio-cultural requirements must be
addressed.

165. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Precision Medicine and AI - for Improving Personalized Care
Precision
Medicine
Artificial
Intelligence
Improving
Personalized Care
Therapy
Planning
Risk Prediction
& Diagnosis
Genomic Considerations
Social Determinants of Health
Clinical Considerations
Genomic Considerations
Clinical Considerations

166. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Genomic Considerations in Therapy Planning

➔Pharmacogenomically actionable variants may require altered
prescribing/dosing.
➔Genome-informed-prescribing advances precision medicine.
➔Real-time recommendations depend on developing ML
algorithms to predict medication need based on genomics.
➔Genotyping personalizes medication & dosage.
➔AI makes high-throughput genome interpretation possible.
➔Deep learning combines scientific literature & sequencing
conclusions to: [1] Propose 3D protein configuration [2] Identify
transcription start sites [3] Model regulatory elements [4]
Predict gene expression from genomic data.
➔Genomic data interpretations relate disease presentation,
genomic variation, prognosis & therapeutic success.

167. What is Precision Medicine?
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Genomic Considerations in Therapy Planning

➔Example: medulloblastoma - The emergence of discrete
molecular subgroups of disease emerged following AI mediated
analysis of hundreds of exomes:
-This facilitated administration of the right treatment, at the right
dosage & to the right cohort of pediatric patients.
-Conventional treatment involved multimodal treatment i.e.
surgery, chemotherapy & whole-brain radiation.
-Precision genomics enabled treating “wingless” tumor subgroup
with only chemotherapy, particularly children & not radiation.
-Avoiding radiotherapy was impactful for mitigating potential
neurocognitive sequelae & secondary cancers from whole-brain
radiation among disease survivors.

168. What is Precision Medicine?
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Genomic Considerations in Therapy Planning

➔Radiogenomics relates gene expression & cancer imaging
features to predict a patient’s risk of toxicity after radiotherapy:
-Example: Predicting isocitrate dehydrogenase genotype was
possible using a framework of multiple residual convolutional
neural networks to non-invasively predict genotype in grade II to
IV glioma using multi-institutional MRI datasets.
-Example: Radiogenomic association in breast cancer, liver
cancer & colorectal cancer can be ascertained with AI. Limited
data availability is a challenge in AI radiogenomics.
-Example: Predicting Chemotherapy Response - Clinicians can
choose the right treatment plan given a therapy response.
Researchers trained SVM with gene expression data to predict
chemotherapy response, encouraging outcomes across drugs.

169. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Environmental Considerations in Therapy Planning

➔Care management plans must include the environment. For
example, care quality/availability is regardless of zip code.
➔The environment may impact risk for poor outcome, knowledge
of care alternatives & conditions for applying each alternative.
-Example: Location - Identifying homelessness is challenging.
Care need is short-term at varying locations, requiring
demographics reassessment. Transport, refrigerated medication
& electricity-dependent diagnostics issues must be addressed.
➔Availability of expertise in remote locations is a challenge.
-Example: Remote Location - AI diagnostics in resource-poor
locations enables patient classification & personalized therapy.
Deep learning can identify malaria & cervical cancer, predict
infection outbreaks, toxin exposure & allergy load.

170. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Clinical Considerations in Therapy Planning

➔Important clinical considerations for successful therapy planning
include age, comorbidities & organ function.
➔AI can assist with stratification when comorbidities exist.
-Example: ML classifiers used to analyze 30 comorbidities to
identify critically ill patients who will require prolonged
mechanical ventilation and tracheostomy placement.
-Example: AI algorithms used to analyze bedside monitored
events & other clinical parameters to predict organ dysfunction
& failure.

171. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Genomic Considerations in Risk Prediction or Diagnosis

➔The ethics of genetic testing without a clear cure is debated.
Broad availability of genetic information offered by next
generation sequencing & direct-to-consumer testing renders
personalized prevention & management of serious diseases a
reality.
➔Patients with a genome-validated risk for disease may warrant
different preventive care strategies.

172. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Genomic Considerations in Risk Prediction or Diagnosis

-Example: Combining data to predict CVD is enabled by
predictive modeling for patient risk. In asymptomatic individuals,
heart failure & serious cardiac events are predictable & when
combined with personal preventive strategies/models, influence
disease incidence & sequelae. CVD complexities depend on
genetic, gender, environmental & lifestyle factors. Integrating
data (EHR & genetic) requires consideration to heterogeneity.
-Example: AI enabled recognition - Phenotype features through
EHR or images & matching features with genetic variants allows
faster genetic disease diagnosis. Accurate, rapid diagnosis of
seriously ill infants with suspected genetic disease is attained
using rapid whole-genome sequencing & NLP-enabled
automated phenotyping.

173. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Non-Genomic Considerations in Risk Prediction or Diagnosis

➔Non-genomic considerations in risk prediction & diagnosis:
-Example: Cognitive Impairment - “Patients with altered speech
or gait patterns may be at risk of depression”.
-Example: Automated Speech Analytics can optimize technical
performance of NLP, understanding & generation to provide
indicators to assess/detect early-stage dementia, minor
cognitive impairment, mental disorders & Parkinson’s disease.
-Example: Digital biomarkers - Digital biomarkers enable
remote disease monitoring for decentralized clinical trials.
Continuous multidimensional measurements of preselected
biomarkers can detect minimal residual disease & monitor
progression. Evolving technology using wearables continuously
analyzes circulating tumor cells to screen for relapsed disease.

174. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Non-Genomic Considerations in Risk Prediction or Diagnosis

-Example of AI-assisted Monitoring in real-time can assess risk
of intrapartum stress during labor & guide the decision of
caesarean section vs normal delivery. This reduces perinatal
complications & stillbirths. It streamlines data to reduce human
interpretation error of cardiotocography data during childbirth.
-Example of detecting & characterization of polyps in
colonoscopy - Wider AI adoption during endoscopy may lead to
higher rate of benign adenoma detection & reduction of risk &
cost of unwanted polypectomy. AI mediated image analysis
helps improve disease risk prediction/diagnosis. It assists in
detecting diabetic retinopathy, metastasis in cancer & identifying
benign melanoma & as a direct-to-consumer diagnostic tool for
anemia.

175. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Non-Genomic Considerations in Risk Prediction or Diagnosis

-Example: Use of Home monitoring & wearable devices is
accompanied by the expectation that collected data could help
detect disease at an earlier stage. Advances have fueled new,
non-invasive wearable apps to monitor & detect specific health
conditions including epilepsy, diabetes, CVD, pain management,
obesity, Parkinson’s & sleep disorders. Wearable devices detect
disease at an early stage.

176. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Ongoing Challenges in Using AI in Precision Medicine

➔AI implementation in precision medicine assists in disease
diagnosis, risk prediction & treatment response.
➔The success of transforming AI system to real-world app
depends on accuracy & capability of working in a reliable, safe &
generalizable manner.
➔Challenges are related to fairness & bias, socio-environmental
factors, data safety & privacy.

177. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Ongoing Challenges in Using AI in Precision Medicine

➔Fairness & Bias:
-Health data can be biased while building & processing datasets.
-AI model trained on data might amplify bias & lead to
unfavourable decisions towards groups of people characterized
by gender, age, geographical race & economic level.
-Subconscious bias harms clinical applicability & health quality.
-It is crucial to detect & mitigate bias in data & models.
-The solution is to improve data diversity. For example, recruiting
participants with diverse backgrounds, using fairness metrics to
detect bias among datasets & models & using algorithms to
mitigate bias in classifiers.
-Fairness & protected attributes relate to domain context & apps.
-Collaboration between AI & biomedical community is required.

178. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Ongoing Challenges in Using AI in Precision Medicine

➔Socio Environmental Factors:
-Socio-environmental factors influence model performance &
clinical efficacy.
-An AI system designed to assist diabetic retinopathy screening
through in-time assessment achieved > 90% sensitivity &
specificity on retrospective patient data.
-When applied to a clinical system with impaired image quality &
unstable internet connection, it resulted in lower processing
speed & longer waiting times.
-This indicates the need to validate AI models in clinical settings
& using an iteration loop to collect feedback for learning.
-Taking feedback comes at a high cost & time. Other ways to
create high performing AI systems must be explored.

179. What is Precision Medicine?
[19]K. B. Johnson et al., “Precision Medicine, AI, and the Future of Personalized Health Care,” Clinical
and Translational Science, vol. 14, no. 1, 2020.
Artificial
Intelligence &
Precision
Medicine
Convergence


AI + Precision Medicine Convergence [19]
Ongoing Challenges in Using AI in Precision Medicine

➔Data Safety & Privacy:
-Data is crucial to AI driven systems.
-AI & precision medicine are converging.
-The use of safe & well-controlled ecosystem for data storage,
management & sharing requires new technology adoptions,
collaborations, regulations & business models.

180. The Conversation:
Stanford Medicine Precision Health
© 2025 Safia Fatima Mohiuddin

181. What is Precision Medicine?
[20]R. Richter, “Precision health: Predicting and preventing disease — not just treating it,” Stanford
Medicine News Center, 2015. Available:
https://med.stanford.edu/news/all-news/2015/06/precision-health-predicting-and-preventing-diseas
e.html
Stanford
Medicine
Precision
Health


Stanford Medicine Precision Health [20]
Stanford Medical System

➔Precision health is a big data approach to disease prevention,
focusing on factors that maintain health throughout life.
➔Physicians search millions of anonymized patient records with
similar medical experiences & determine the best treatment.
They make decisions based on what worked effectively for
others with similar symptoms or characteristics.
➔Such a system is hosted by Stanford Medical System to analyze
large patient databases, medical literature, mobile monitoring &
real-life drug experiences.
➔It provides an evidence-based approach to medicine that has not
been possible before.
➔It is a planned system demonstrating how clinicians tap into
health data to provide targeted, predictive & personalized care.

182. What is Precision Medicine?
[20]R. Richter, “Precision health: Predicting and preventing disease — not just treating it,” Stanford
Medicine News Center, 2015. Available:
https://med.stanford.edu/news/all-news/2015/06/precision-health-predicting-and-preventing-diseas
e.html
Stanford
Medicine
Precision
Health


Stanford Medicine Precision Health [20]
Stanford Medical System

➔Precision health is not just treating existing disease/conditions
but predicting/preventing disease before manifestation.
➔It is at the intersection of medical technology & big data, offering
new ways to keep people healthy.
➔It is a way of translating data into information, leading to a novel
form of health promotion with an advanced level of precision.
➔Stanford research stems from advances in biomedical data
science & basic research.
➔Researchers can now analyze vast data quantities from multiple
sources such as EMR, genomic sequences, insurance or
pharmaceutical records, social & environmental data &
wearable sensors.

183. What is Precision Medicine?
[20]R. Richter, “Precision health: Predicting and preventing disease — not just treating it,” Stanford
Medicine News Center, 2015. Available:
https://med.stanford.edu/news/all-news/2015/06/precision-health-predicting-and-preventing-diseas
e.html
Stanford
Medicine
Precision
Health


Stanford Medicine Precision Health [20]
Stanford Medical System

➔Physicians & researchers can predict individual risk for specific
disease & develop approaches for early detection/prevention.
It provides clinicians with the information to assist in real-time
decision-making for optimal patient care.
➔Initiatives in precision health inquire large datasets to
interpret/analyze data & gain sophisticated understanding of
health determinants/wellbeing & specific rIsk
factors/approaches for individual patients.
➔Stanford Health enables a new level of precision in
maintaining health through collaborations that apply
computations to clinical problems. Scientists develop
approaches that directly impact patients in the clinic.

184. What is Precision Medicine?
[20]R. Richter, “Precision health: Predicting and preventing disease — not just treating it,” Stanford
Medicine News Center, 2015. Available:
https://med.stanford.edu/news/all-news/2015/06/precision-health-predicting-and-preventing-diseas
e.html
Stanford
Medicine
Precision
Health


Stanford Medicine Precision Health [20]
Stanford Medical System

➔Stanford Medicine uses fundamental science & traditional
medicine. Genomic oncology, cancer stem cells, advanced
diagnostics & clinical trial infrastructure are targeted approaches
to prevention/treatment.
➔In large-scale data analysis, researchers develop targeted &
cost-effective methods for early diagnosis of disease.
-Example: Detecting a single molecule of tumor DNA among
thousands of healthy molecules. A blood sample could diagnose
many solid cancers or monitor cancer level in the patient’s body.
-Example: Data on physical activity & cardiac risk factors will
help research & medical professionals understand heart
function, gauge heart age, & understand motivators that
promote heart health.

185. What is Precision Medicine?
[20]R. Richter, “Precision health: Predicting and preventing disease — not just treating it,” Stanford
Medicine News Center, 2015. Available:
https://med.stanford.edu/news/all-news/2015/06/precision-health-predicting-and-preventing-diseas
e.html
Stanford
Medicine
Precision
Health


Stanford Medicine Precision Health [20]
Stanford Medical System

-Example of a blood test to quickly & accurately detect sepsis
- Sepsis is a deadly system-wide inflammation linked to 750,000
deaths per year in the United States. It can kill patients within
hours & is the most common cause of hospital deaths,
Researchers use publicly available patient data to identify
specific immune response genes linked to the condition, that will
assist in developing a simple diagnostic test for sepsis.
-Example: Understanding biological markers of health at the
molecular & cellular level was enabled by a pilot study
conducted by Stanford researchers. This will uncover factors that
keep people healthy.

186. The Conversation:
Precision Medicine Expert Opinion - Delpierre & Lefèvre (2023)
© 2025 Safia Fatima Mohiuddin

187. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔US National Human Genome Research Institute - Definition
of Precision Medicine - “Precision medicine, generally
considered analogous to personalized/individualized medicine, is
an innovative approach that uses information about an
individual’s genomic, environmental & lifestyle to guide decisions
related to their medical management. The goal of precision
medicine is to provide a more precise approach for prevention,
diagnosis & treatment of disease.”
-Precision medicine uses large biological data volumes for
individuals, in line with the biomedical model of health which
carries the risk of the biological reductionism of the person.
-The role of environmental exposures in a broad sense is
highlighted in exposome research.

188. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

-Comprehensive, precise & personalized approach to health
would require considering environmental, socioeconomic,
psychological & biological determinants - an approach inline
with the biopsychosocial model of health.
-Not considering conceptual framework of deploying precision
medicine leads to the concealment of different responsibilities
that can be mobilized within the healthcare system.
-Anchoring precision medicine in a model that does not limit its
definition to its biological & technical components helps
envisage personalized & precise medicine integrating more
interventions centered on individual skills & life contexts.
-Omics data has guided development of P4 medicine in parallel
with clinical genetics, digital technology & Artificial Intelligence.

189. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔US National Human Genome Research Institute - Definition
of Personalized Medicine - “An emerging practice of medicine
that uses an individual’s genetic profile to guide decisions made
in regard to the prevention, diagnosis, & treatment of disease”.
-The knowledge of patient’s genetic profile will help doctors
select the proper medication or therapy & administer it using the
proper dose & regimen.
-Personalized medicine is being advanced through data from the
Human Genome Project.

190. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔US National Human Genome Research Institute - Definition
of Precision Medicine - “Precision medicine is an innovative
approach that uses information about an individual’s genomic,
environmental, & lifestyle information to guide decisions related
to their medical management. The goal of precision medicine is
to provide a more precise approach for the prevention,
diagnosis, & treatment of disease.”
-Precision medicine & personalized medicine are used
interchangeably.

191. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔US National Cancer Institute - Definition of Personalized
Medicine - “A form of medicine that uses information about a
person’s own genes/proteins to prevent, diagnose or treat
disease”
-In cancer, personalized medicine uses specific tumor information
towards a diagnosis, prognosis, treatment plan or performance.
➔US National Research Council - Precision Medicine Definition
-“Personalized medicine” is an older term that means similar to
“precision medicine”. Owing to a concern that “personalized”
could be misinterpreted to imply that treatment & preventions
are developed uniquely for each individual, the Council preferred
“precision medicine’ to “personalized medicine”.

192. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔French National Cancer Institute - Definition of Precision
Medicine - “Precision medicine is based on two types of
treatment - targeted therapies & specific immunotherapies (144
drugs available, 107 targeted therapies, 37 specific
immunotherapies)”
-These treatments are used for patients with advanced forms of
cancer or those who have relapsed.
-They offer patients a treatment adapted to the characteristics of
the tumor.
-The treatments have had success with cases of chronic myeloid
leukemia, lung & breast cancer & metastatic melanoma.

193. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔Precision & Personalized Medicine as an Implicit
Representation of the Biomedical & Biopsychosocial Model
(1970s)
-The Biomedical Model defines health on the basis of individual’s
health, determined by the biology of individual at different
scales. At the most basic scale is genetics, accompanied by
molecular, cellular, histological & anatomical scales. It is
centered on the individual, supplemented by everything that is
not individual i.e. the gene & environment interaction model.
The biomedical model is deeply reductionist & materialist
representation. This is one of the models on which precision
medicine is built, centering on the biological characteristics of
the individual.

194. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

-The Biopsychosocial Model defines individual health by taking
three complementary dimensions i.e. biological, psychological
& social. The definition of the model complies with WHO
definition i.e. “state of complete physical, mental & social
wellbeing, not merely the absence of disease or infirmity”. By
incorporating socio-economic, environmental & psychological
determinants, the biopsychosocial model defines health as a
interdisciplinary, complex & trans-dimensional concept. It uses a
more global, precise & comprehensive approach by taking
multiple models into consideration & is more in line with the
term "personalized".

195. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔The Practice of Precision Medicine, Exposome Approach &
Embodiment
-Omics characteristics alone (primarily genomics) are not
sufficient to predict phenotype, i.e. disease development,
treatment response & role of environmental exposures
(psychosocial, physicochemical or behavioral exposures) to
determine gene expression.
-The International Agency for Research on Cancer reports that
environmental & lifestyle factors account for 40% of the cancers
in France.
-The development of exposome science reflects the
“rebalancing” of the roles of the environment & genes with
greater weightage on the former.

196. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

-The exposome is all exposures of an individual to
external/environmental factors starting from the prenatal period.
The external exposome is exposures outside the body (social,
cultural & ecological), or specific exposures (lifestyle factors &
chemical pollutants). The internal exposome is metabolic &
physiological processes & measurable biomarkers that take
place inside the body. The internal exposome is derived from the
knowledge of metabolomics, transcriptomics, genomics &
lipidomics. The exposome approach links the human
environment to internal biological functioning (a concept
formalized in social epidemiology).

197. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

-According to Nancy Krieger, embodiment refers to the way of
biologically incorporating the social & material world. Biological
embodiment of the social or social to biological transition takes
place through two different mechanisms - exogenous origin &
endogenous origin.
-Mechanisms of exogenous origin refer to external
entities/conditions that enter the body & initiate a physiological
response. These may be classified as inert/living entities such
as asbestos, foodstuff, bacteria, viruses, pesticides, work
exposures & pollutants, or entities that lead to physical harm
such as accidents or injuries, or exertion such a due to actions
or movements, or lifestyle behaviors such as tobacco use.

198. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

-Mechanisms of endogenous origin are responses elicited
from internal molecules linked to stress perception & stress
response in addition to psychological & cognitive functions due
to environmental interactions. Exposures refer to psychosocial
exposures including childhood adversities such as sexual
abuse, trauma, neglect & physical violence, social support or
isolation, occupational constraints or discrimination based on
gender, age, skin color, social class, disability or sexual
orientation. These factors explain why it is not appropriate to
consider social & biological functioning in isolation as the two
are linked together.

199. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔The Importance of Developing Personalized Health &
Medicine based on a Broader Vision of Health
-External exposures influence biological function at different
levels of omics in humans & animals including gene expression
through changes in the epigenome.
-Considerable data is available on the effects of physicochemical
exposures or health behaviors. However the social environment
is less frequently considered. As literature evidence indicates
that external exposures influence biological function, this
dimension requires integration for a better understanding of
health & disease.

200. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

-Horton (2020) indicated that considering social & biological
aspects improve disease understanding & management.
-Ziegelstein (2017) coined the term "personomics" in the context
of precision medicine, which defined individuals not just by way
of biological variability, but also by their health beliefs,
personalities, financial resources, unique life circumstances &
social support network. These factors indicated effects on the
manifestation of a health condition or response to
treatment. Medical records may not contain socio-economic
data, suggesting the need to phenotype individuals at the
environmental level.

201. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

➔Specifications & Implications of Current State of
Personalized Medicine
-Technique defines Personalized Medicine. Tools define concrete
actions & how they are carried out.
-Knowledge, societies & techniques influence conceptions of
illness, health, prevention, treatment, restoration & palliation.
-However, an emerging technique may not be applied to a
previously identified health problem most appropriately.
-The current definition of personalized medicine may change
what technique determines practice/knowledge & vice versa.
-Personalized medicine in the present day is defined by technical
aspects i.e. data use with or without algorithms.
-There is no explicit conceptual framework of health/healthcare.

202. What is Precision Medicine?
[21]C. Delpierre and T. Lefèvre, “Precision and personalized medicine: What their current definition
says and silences about the model of health they promote. Implication for the development of
personalized health,” Frontiers in Sociology, vol. 8, no. 1112159, 2023, doi:
https://doi.org/10.3389/fsoc.2023.1112159
Precision &
Personalized
Medicine
Definitions:
Delpierre &
Lefèvre


Precision & Personalized Medicine Definitions [21]
Precision & Personalized Medicine Definitions

-Data-driven techniques/tools to screen/quantify risks are
examined with the individual centered in the biomedical model.
-Personalized medicine in the biopsychosocial model replaces or
supplements “individual” with “shared” responsibilities/funding.
-Several other factors apply, such as physician-patient
relationship & public health policies.
-Other policies affecting health such as education, industrial,
housing, agri-food, prescription diets, behavioral interventions &
physical activity can affect individual health management.
-Viewing personalized medicine beyond the biomedical model
involves integrating more interventions & interrelations such
as patient empowerment & therapeutic education. A new
framework may need to be proposed.

203. The Conversation:
Precision & Personalized Medicine - Jackson Laboratory Definition
© 2025 Safia Fatima Mohiuddin

204. What is Precision Medicine?
[22]The Jackson Laboratory, “What is personalized medicine?,” The Jackson Laboratory, 2021.
Available:
https://www.jax.org/personalized-medicine/precision-medicine-and-you/what-is-precision-medicine
Precision &
Personalized
Medicine
Definitions: The
Jackson
Laboratory


Precision & Personalized Medicine Definitions [22]
Precision & Personalized Medicine Definitions

➔Key Aspects of Personalized Medicine:
-Precise, powerful, predictable healthcare.
-One-size-fits-all approach based on broad population averages.
-Differences in genetic makeup.
-Customized to patient according to differences in
genetics/genomics, how it drives health, disease, drug response.
-This information enables physicians to provide better disease
prevention, more accurate diagnosis, safer drug prescriptions &
more effective treatment.

205. What is Precision Medicine?
[22]The Jackson Laboratory, “What is personalized medicine?,” The Jackson Laboratory, 2021.
Available:
https://www.jax.org/personalized-medicine/precision-medicine-and-you/what-is-precision-medicine
Precision &
Personalized
Medicine
Definitions: The
Jackson
Laboratory


Precision & Personalized Medicine Definitions [22]
Precision & Personalized Medicine Definitions

➔Pitfalls of Traditional (Reactive) Practice of Medicine:
-Historically, the practice of medicine has been "reactive",
initiating a treatment after disease onset.
-A lack of understanding of environmental & genetic factors
leading to major diseases leads to ineffective, imprecise &
unpredictable efforts in treating the disease.
-Drugs & treatments are tested on broad populations, making
them effective only for some patients but not others due to
genetic differences.

206. What is Precision Medicine?
[22]The Jackson Laboratory, “What is personalized medicine?,” The Jackson Laboratory, 2021.
Available:
https://www.jax.org/personalized-medicine/precision-medicine-and-you/what-is-precision-medicine
Precision &
Personalized
Medicine
Definitions: The
Jackson
Laboratory


Precision & Personalized Medicine Definitions [22]
Precision & Personalized Medicine Definitions

➔Benefits of Precision Medicine - Personalized care helps
providers overcome limitations of traditional medicine:
Shift medicine emphasis
from reaction to prevention
Predict disease
susceptibility
Improve disease
detection
Prevent disease
progression
Customize disease
prevention strategies
Prescribe more
effective drugs
Avoid prescribing drugs with
predictable side effects
Reduce time, cost, failure rate
of pharma clinical trials
Eliminate inefficiencies due to trial-and-error that
inflate care costs & compromise on patient care

207. What is Precision Medicine?
[22]The Jackson Laboratory, “What is personalized medicine?,” The Jackson Laboratory, 2021.
Available:
https://www.jax.org/personalized-medicine/precision-medicine-and-you/what-is-precision-medicine
Precision &
Personalized
Medicine
Definitions: The
Jackson
Laboratory


Precision & Personalized Medicine Definitions [22]
Precision & Personalized Medicine Definitions

➔The Jackson Laboratory Research Areas:
-Genes/gene network interactions & external factors
(diet/exercise) define biological traits (hair color) & health status.
Systems genetics approach targets biological complexity.
-Genetic complexity is derived from large databases using
statistical tools to understand the basis of health & disease.
-Jackson Laboratory specializes in systems genetics, enabling
personalized medicine for individual's genetic composition.
-Their research helped uncover unresponsiveness to Gleevec,
prescribed for leukemia. They also proposed a new drug.
-Other research areas are genetic interactions in Type I Diabetes,
HDL gene networks & gene/environment factors in aging.

208. The Conversation:
Precision & Personalized Medicine - TechTarget Industry Brief
© 2025 Safia Fatima Mohiuddin

209. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Background Information:
-Approximately 1.7 million new cancer cases were diagnosed in
the US in 2017.
-About 600,000 deaths were expected in 2017 (American Cancer
Society).
-Direct economic impact of cancer is $80 billion per year &
billions are lost due to loss of productivity, wages & caregiver
needs.
-Cancers are preventable through lifestyle changes such as
quitting tobacco, improving weight & diet & reducing alcohol
consumption; however, many cancers are the result of
predispositions to diseases inherited along ethnic, familial &
racial lines.

210. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Background Information:
-Neurological diseases such as Alzheimer’s produce similar
impact: Alzheimer’s is the sixth leading cause of death in the US.
-Alzheimer's Association predicts that 16 million affected
individuals by 2050.
-Alzheimer’s & forms of dementia cost US approximately $259
billion in 2017. Dementia cases will rise as population ages &
costs will rise to $1.1 trillion by 2050.
-There is an urgent need to find a cure for conditions leading to
direct & indirect costs.
-Precision medicine approaches to find links between drugs,
genes & populations can uncover the impact of genetics,
susceptibility & likelihood of survival of a condition.

211. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔What is Precision Medicine ?
-Precision Medicine Initiative defines several key terms in the
context of precision medicine - the elements of disease
treatment & prevention, individual variability in genes, lifestyle &
environment.
-On the other hand, the traditional physician approach has
been to recommended a treatment course based on gender,
age, mobility levels, community resources, patient preferences &
other circumstances.
-The difference between the two approaches is the use of data,
largely genomic data, to determine the effectiveness of
treatment decisions.

212. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔What is Precision Medicine ?
-As genetic testing gets affordable & accessible, researchers can
tap into large data volumes from diverse patient groups.
-Genomic data is combined with pharmaceutical,
socioeconomic & clinical information into an integrated dataset
& analyzed with analytics, enabling researchers to observe
patterns in treatment effectiveness & trace genetic variations
& their correlation to failure or success.
-Clinical trials may assist in testing & validating assumed
hypotheses. Results that comply with rigorous scientific
standards may be used to design best practices in future or
clinical guidelines to treat specific conditions & integrate them
into clinical decision support systems.

213. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔How Does Precision Medicine Differ from Personalized
Medicine ?
-According to the National Research Council (NRC), personalized
medicine is largely misunderstood as completely individualized
treatments. While precision medicine may mean tailoring
medical treatment to individual characteristics, it does not mean
creating drugs unique to every patient. It refers to classifying
patients into subgroups that differ in terms of disease
susceptibility or treatment response. "Personalized medicine"
may be used to convey the same meaning, however the term
"precision" is used to mean "precise" & "accurate".

214. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔How Does Precision Medicine Differ from Personalized
Medicine ?
-"Precision medicine" seems to be the preferred term to
"personalized medicine", especially after the introduction of
Obama's Precision Medicine Initiative.
-CDC official Muin J. Khoury, Director, Office of Public Health
Genomics observed that precision & personalized medicine are
related & rely on genomics. However, personalized interventions
may not necessarily lead to improved outcomes. For example,
while Direct-to-consumer (DTC) kits deliver highly personalized
information, they may not be precise or actionable & may
provide uncertain information that does not align with evidence,
or clinical priorities/patient interests.

215. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Key Terms in Precision Medicine:
-A genome is an organism's genetic material.
-DNA comprises coding regions - genes that govern protein
function & non-coding sequences that govern regulatory
functions.
-Genomics is the study of genome & its DNA.
-A gene in a genome encodes the function of a molecule, such as
eye color, blood group or disease predisposition.
-Mutations in genes are passed through families leading to
inherited conditions.
-Variations in an individual's phenotype or sum of observable
physical/behavioral characteristics are the result of gene
combinations that produce those traits.

216. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Key Terms in Precision Medicine:
-Genetic sequencing (DNA sequencing) determines the order of
the four building blocks of DNA i.e. adenine, guanine, cytosine &
thymine. The order of the chemicals in a strand of DNA
determines the genetic information in that DNA segment.
Researchers determine the sections that encode genes & those
that encode regulatory regions.
-Next-generation sequencing is the collection of techniques
that have enhanced the speed & detail of genetic sequencing by
enabling "reads" i.e. individual's DNA fragments & using
algorithms to compare the results to a DNA library to identify
mutations & differences.

217. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Key Terms in Precision Medicine:
-CRISPRs (Clustered Regularly Interspaced Short Palindromic
Repeats) belong to the individual's bacterial defense system.
They consist of repeat sequences of genetic code with "spacer"
sequences in between that are genetic code remnants of past
invaders. This genetic memory assists the cell in detecting &
destroying invaders (i.e. bacteriophages). CRISPR technologies
may help correct disease susceptibilities & damaging mutations,
circumventing drug side effects & making it possible to rectify
genetic conditions without a pharmaceutical remedy.

218. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Key Terms in Precision Medicine:
-Pharmacogenetics uncovers how genetic differences influence
drug metabolic pathways & how individuals respond to
pharmaceutical interventions based on their genetic makeup, so
as to design personalized drug combinations. Pharmacogenetics
also has implications in drug safety research & identifying
negative drug-gene or drug-drug interactions.
-Biomarkers in clinical practice identify disease, toxicity, infection,
or another process in an organism. Examples of biomarkers
include antibodies following infection, lead levels in the blood,
prostate specific antigen (PSA), or thyroid hormone levels. They
may also indicate molecular signatures for a patient's likelihood
to respond to certain advanced therapies.

219. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Key Terms in Precision Medicine:
-Genomic research conducted at scale on large volumes of
patient data to investigate rare genetic conditions or targeted
therapies for specific patient populations assists in finding
suitable candidates for clinical trials. Biobanks collect & store
DNA samples from large pools of potential subjects. Examples of
biobanks include those established by Northwell Health,
Geisinger Health System, Kaiser Permanente, Department of
Veterans Affairs & the All of Us Research Initiative.
-Further to federal involvement, the private sector, academia,
Silicon Valley & collaborative partnerships are engaged in
advancing precision health & precision medicine.

220. What is Precision Medicine?
[23]J. Bresnick, “What Are Precision Medicine and Personalized Medicine?,” Healthtech Analytics, 2018.
Available:
https://www.techtarget.com/healthtechanalytics/feature/What-Are-Precision-Medicine-and-Persona
lized-Medicine
Precision &
Personalized
Medicine:
Industry Brief
by TechTarget
Healthtech
Analytics


Industry Brief: Precision, Personalized Medicine [23]
Precision & Personalized Medicine Industry Insight

➔Key collaborative partnerships in precision medicine:
-Geisinger Health System’s National Precision Health Initiative.
-Eleven biopharmaceutical companies & NIH Partnership for
Accelerating Cancer Therapies (PACT) program.
-Indiana University (IU), Regenstreif Institute & LifeOmic “data
commons” for precision medicine research.
-Partnership between five campuses in the University of
California to form a precision medicine research & big data
analytics network.
-Long-term partnership between Roche Diagnostics & GE
Healthcare towards clinical decision support & big data analytics.
-Clinical decision support system by IBM Watson Health & Quest
Diagnostics.

221. The Conversation:
Precision Medicine Benefits - Genomind Learning Center
© 2025 Safia Fatima Mohiuddin

222. What is Precision Medicine?
[24]A. Gillotte, “Benefits of Precision Medicine and How It Can Help Keep You Healthy - Genomind,”
genomind.com, 2022. Available: https://genomind.com/patients/precision-medicine-benefits/
Genomind
Learning
Center:
Precision
Medicine
Benefits


Genomind: Precision Medicine Benefits [24]
Benefits of Precision Medicine

➔Precision medicine can find appropriate drugs for a treatment.
➔It can assist in understanding adverse drug reactions, enabling
clinicians to determine the drugs that work prior to prescription.
➔It can help determine risk factors for developing illnesses.
➔It can identify at-risk patient groups before symptoms emerge
using AI & data science & find relevant biomarkers.
➔It provides physicians with the tools to predict illnesses before
they emerge, making it possible to prevent disease.
➔Precision medicine has been successful in identifying the right
tests & treatments for cancer (breast, colorectal & lung cancer),
with the fewest adverse drug events (ADEs) through
pharmacogenetic testing.

223. What is Precision Medicine?
[24]A. Gillotte, “Benefits of Precision Medicine and How It Can Help Keep You Healthy - Genomind,”
genomind.com, 2022. Available: https://genomind.com/patients/precision-medicine-benefits/
Genomind
Learning
Center:
Precision
Medicine
Benefits


Genomind: Precision Medicine Benefits [24]
Benefits of Precision Medicine

➔It is also possible to reduce ADEs for heart disease & mental
health disorders, hospitalizations & ER visits per year.
➔Precision medicine healthcare tools & diagnostic tests can lower
healthcare costs by discovering digital biomarkers before
symptoms emerge rather than in the late stages & preventing
trial-and-error method for prescription.
➔NIH "All of Us" program contains information from a million
Americans with diverse backgrounds (cultural & socioeconomic),
to determine the effect of lifestyle, genes & environment,
likelihood of acquiring a disease & identifying effective
treatments

224. The Conversation:
Precision Medicine Biomarkers & Diagnostics by Acobiom
© 2025 Safia Fatima Mohiuddin

225. What is Precision Medicine?
[25]“Precision Medicine - Taking into Account Individual Differences,” Acobiom. Available:
https://www.acobiom.com/en/precision-medicine/
Healthcare
Innovator
Acobiom:
Precision
Medicine
Biomarkers &
Diagnostics


Healthcare Innovator: Precision Medicine [25]
Healthcare Innovator Acobiom describes the Future of Precision
Medicine in Clinical Practice

➔According to California Initiative to Advance Precision Medicine,
precision medicine objective is stated as a way to "optimize a
preventive, diagnostic or therapeutic intervention" in a patient
subpopulation that is likely to benefit.
➔Big data with transformative medical practices leads to the
development of precision medicine.
➔Precision medicine enables predictions related to treatment
efficiency & quality to improve patient care & quality of life
during treatment. Other benefits include reduction in hospital
costs, biomedical research expenses & costs related to
pharmaceutical industry.
➔Precision medicine is routinely applied to oncology.

226. What is Precision Medicine?
[25]“Precision Medicine - Taking into Account Individual Differences,” Acobiom. Available:
https://www.acobiom.com/en/precision-medicine/
Healthcare
Innovator
Acobiom:
Precision
Medicine
Biomarkers &
Diagnostics


Healthcare Innovator: Precision Medicine [25]
Healthcare Innovator Acobiom describes the Future of Precision
Medicine in Clinical Practice

➔Patient subpopulations are differentiated by identifying
molecular abnormalities or molecular markers.
➔Molecular classifications enable targeted therapies. Physicians
can distinguish cancer types & link them to relevant therapies.
➔In clinical practice, implementing precision medicine requires
identifying a patient subpopulation with the same disease
susceptibility, a progressive behavior or therapy response.
➔Identifying the sub-population requires generating, integrating &
analyzing physiological, clinical & biological data from healthy &
diseases individuals to measure disease progression & measure
therapy benefit

227. What is Precision Medicine?
[25]“Precision Medicine - Taking into Account Individual Differences,” Acobiom. Available:
https://www.acobiom.com/en/precision-medicine/
Healthcare
Innovator
Acobiom:
Precision
Medicine
Biomarkers &
Diagnostics


Healthcare Innovator: Precision Medicine [25]
Healthcare Innovator Acobiom describes the Future of Precision
Medicine in Clinical Practice

➔The approach to identifying a sub-population requires identifying
& validating physiological, biological & morphological markers,
that are reliable, specific & relevant to measure a pathological or
normal biological process, or measure a patient response to
treatment.
➔Biomarkers can be molecular or cellular such as RNA, DNA or
protein. They are either measured with tissue or liquid biopsy or
for morphological biomarkers, through radiology tools.
➔Precision medicine is a data-driven approach that can be applied
to medicine & research to follow the health of people & cure
patients.

228. What is Precision Medicine?
[25]“Precision Medicine - Taking into Account Individual Differences,” Acobiom. Available:
https://www.acobiom.com/en/precision-medicine/
Healthcare
Innovator
Acobiom:
Precision
Medicine
Biomarkers &
Diagnostics


Healthcare Innovator: Precision Medicine [25]
Healthcare Innovator Acobiom describes the Future of Precision
Medicine in Clinical Practice

➔Precision medicine is also termed as data-driven medicine that
will make new treatments available, enable better use of generic
drugs & innovative molecules & generate cost savings.
➔Data that is integrated from phenotypes, clinics, transcriptomics,
genomics, proteomics & similar disciplines, is a powerful tool for
physicians to get a precise vision of diseases.
➔The volume & complexity of this data is handled by
bioinformatics software & algorithms. For example, while the
historical Sanger method generated thousands of sequence
data, Next Generation Sequencing allows for the generation of
millions of sequence data.

229. What is Precision Medicine?
[25]“Precision Medicine - Taking into Account Individual Differences,” Acobiom. Available:
https://www.acobiom.com/en/precision-medicine/
Healthcare
Innovator
Acobiom:
Precision
Medicine
Biomarkers &
Diagnostics


Healthcare Innovator: Precision Medicine [25]
Healthcare Innovator Acobiom describes the Future of Precision
Medicine in Clinical Practice

➔Big data with patient information must be structured for use in
clinical settings. Precision medicine approaches are designed to
work with clinical & biological data in conjunction with public
health data. Challenges lie in data transfer & management of
patient private data by developing specific tools & methods.
➔Initiatives dedicated to the analysis of this data include PACE
initiative (Partnership for Advanced Computing in Europe).
➔Innovators envision a future where healthcare workers will be
assisted by AI & ML in their clinical practice will shif towards
precise & informed clinical decision-making.

230. The Conversation:
Precision & Personalized Prevention Review - Huang Zii (2023)
© 2025 Safia Fatima Mohiuddin

231. What is Precision Medicine?
[26] Huang Zii, “Precision Medicine and Personalized Prevention Navigating the Future of
Healthcare,” Journal of Health Care and Prevention, vol. 6, no. 6, pp. 1–2, 2023, Available:
https://www.omicsonline.org/peer-reviewed/precision-medicine-and-personalized-prevention-naviga
ting-the-future-of-healthcare-128077.html
Expert Review: Precision Personalized Prevention [26]

Expert Review on Precision Medicine and Personalised Prevention

➔Precision medicine & personalised prevention will redefine our
approach to well-being & optimize outcomes.
➔Precision medicine shifts the approach to care from a
population-centered to patient-centered one.
➔It relies on lifestyle, genetic makeup & environmental factors
influencing individual health at the core, making sense of health
status by studying genetic markers for diseases & conditions.
➔Genetic predispositions, individual disease risks & medication
response leads to the development of tailored treatment plans
to minimize adverse effects, improve treatment efficacy &
enhance patient experience.
➔Genetic markers will allow targeted preventive measures before
symptoms appear.
Expert Review
on Precision
Medicine and
Personalised
Prevention

232. What is Precision Medicine?
[26] Huang Zii, “Precision Medicine and Personalized Prevention Navigating the Future of
Healthcare,” Journal of Health Care and Prevention, vol. 6, no. 6, pp. 1–2, 2023, Available:
https://www.omicsonline.org/peer-reviewed/precision-medicine-and-personalized-prevention-naviga
ting-the-future-of-healthcare-128077.html
Expert Review
on Precision
Medicine and
Personalised
Prevention


Expert Review: Precision Personalized Prevention [26]

Expert Review on Precision Medicine and Personalised Prevention

➔Precision personalized prevention engages individuals in
managing & enhancing their health, allowing a patient-centered
& personalised approach to healthcare.
➔Precision medicine & personalised prevention is expected to
create a synergy facilitating early detection & intervention for
underlying conditions.
➔Precision medicine & personalised prevention will imbibe genetic
predispositions & modifiable lifestyle factors to form a
comprehensive strategy to alleviate disease development &
progression.
➔Artificial Intelligence & Machine Learning will enhance the
impact of precision medicine & personalised prevention by
finding patterns in large datasets & accurately predicting risk.

233. What is Precision Medicine?
[26] Huang Zii, “Precision Medicine and Personalized Prevention Navigating the Future of
Healthcare,” Journal of Health Care and Prevention, vol. 6, no. 6, pp. 1–2, 2023, Available:
https://www.omicsonline.org/peer-reviewed/precision-medicine-and-personalized-prevention-naviga
ting-the-future-of-healthcare-128077.html
Expert Review
on Precision
Medicine and
Personalised
Prevention


Expert Review: Precision Personalized Prevention [26]

Expert Review on Precision Medicine and Personalised Prevention

➔Predictive analytics will accelerate biomarker discover &
customise preventive measures to inform treatment/prevention.
➔The major ethical considerations in this realm is ensuring data
privacy to securely handle sensitive genetic information,
promoting equity in making the advanced healthcare approach
affordable & accessible without healthcare disparities.
➔Regulatory frameworks will ensure transparency, preventing
misuse.
➔In addition, genetic information needs to be converted into
actionable insights through continued efforts in communication
& education. The goal is to help individuals & providers
understand the significance of genetic testing, constraints in
available knowledge, & the benefits/risks of the approach.

234. The Conversation:
Precision Medicine Benefits & Investment - Brazilian IPEA Research
© 2025 Safia Fatima Mohiuddin

235. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

➔Clinical trials precede discovery of new treatments. Double-blind
studies, placebos & randomized double-blind studies have
increased in accuracy, however, individual response has been
variable. This variability is not due to external factors such as
nutrition, age & environment, but rather in the genes.
➔Correlations between genotype & drug response was established
using pharmacogenetics - a culmination of the fields of
biochemistry, genetics & pharmacology.
➔Pharmacogenetics can unravel patterns in phenotypic variations
that are clinically relevant. Gene sequence variations result in
variations in target proteins, transport proteins & enzymes
leading to variability in drug response.

236. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

➔Pharmacogenetics & human genomics lead to
pharmacogenomics, enhancing results. Data from gene
sequences & alterations provide information for prevention &
intervention. This information is clinically translated as precision
or personalised medicine.
➔Precision medicine combines conventionally used diagnosis &
treatment data i.e. signs, symptoms, personal or family history &
contemporary examinations with genetic information. While
treating, drugs can be prescribed by minimizing their side effects.
To prevent & monitor disease, it allows detecting susceptibility
to pathologies prior to clinical manifestations.

237. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

➔Overall, precision medicine makes the discovery of alternative
therapies possible for individuals or groups that are
unresponsive to conventional treatments, potentially reducing
costs & delays occurring in clinical trials.
➔Benefits of precision medicine include:
-Improved diagnosis & medical management of diseases.
-Reduced expenses & risks by avoiding ineffective practices.
-Characterizing subpopulations to search for suitable drugs,
-Individual benefits may overshadow collective benefits such as
treatment cost reduction.
-Implementing precision medicine requires considerable
investment & public-private partnerships.

238. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

➔Genetic tests in precision medicine target cancer & other clinical
conditions:
-NIH estimates 50,000 genetic tests for 10,000 clinical conditions
(2017 data). CDC estimated two or three new tests per week.
These tests are meant to guide therapies for cancer to address
high lethality, toxic therapies & increasing prevalence among an
ageing population.
-Genetic tests are also useful in other conditions to detect
enzyme polymorphisms in metabolism of antidepressants,
proton pump inhibitors, anticoagulants & chemotherapeutic
metabolizing enzymes.

239. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

-Precision medicine can treat autoimmune diseases, leukaemias,
opioid metabolism, prevent organ rejection, infectious &
neurodegenerative diseases. Cellular & gene therapies target
leukaemia, lymphoma & degenerative retinal diseases.
➔Precision medicine is gaining momentum globally:
-In the US, the Personalised Medicine Coalition estimated rise in
treatments, tests & personalised drugs from 13 (2006) to 113
(2014). Further, FDA classified 16 out of 46 new therapies as
precision medicine (2017). According to OCDE, $35 billion was
invested in health R&D in 2016. Precision medicine received $215
million funding, $130 was allocated to NIH & $70 to National
Cancer Institute (2016).

240. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

-European Commission project entitled Personalised Medicine
2020 & Beyond promotes precision medicine for the general
population to promote strategic research development,
stimulate synergy, avoid competition & duplication & implement
innovation. Studies have been undertaken for cancer & rare
diseases in the UK, Germany, Norway & France. €$ 210 million
was invested by German government to identify markers for
early disease detection, preclinical phenotypes & tools for
prevention. UK investment was 60 million pounds for a study
analyzing genotypic/phenotypic biomarkers in patient cohorts.

241. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

-In Brazil, the National Pharmacogenetic Network was created in
2003 for the generation of pharmacogenetic data of Brazilian
population. The Brazilian Initiative on Precision Medicine
(BIPMed) was formed in 2015 to store genetic data from five
institutions. The Brazilian Association of Personalized &
Precision Medicine was created in 2017. Private clinical analysis
labs provide genetic testing to address the demand from
hospitals. Collaboration between technology companies &
private hospitals makes genetic testing & individualized
approaches feasible.

242. What is Precision Medicine?
[27]Karoline (n.d.). Center for Research on Science, Technology and Society. [online] www.ipea.gov.br.
Available at: https://www.ipea.gov.br/cts/en/all-contents/articles/articles/128-precision-medicine.
Brazilian IPEA
Research
Center Review:
Precision
Medicine
Benefits &
Ongoing
Investment

Global Review: Precision Medicine Benefits [27]
Brazilian IPEA Research Center Benefits of Care Delivered by Precision
Medicine & Ongoing Investment Worldwide

➔According to Personalised Medicine Coalition 2018 survey in the
US, 60% of the population is unaware of the terms “precision
medicine” or “personalised medicine”. Most respondents
indicated that insurers must cover tests. They were concerned
about privacy & affordability of genetic data. According to 2016
survey conducted in the US & Germany, physicians indicated
their concern about use of genetic data in EHR.
➔Individualized data collection has ethical implications about
access from the legal & public policy perspectives. Making data
available may lead to exclusion from jobs. However, it may
improve diagnosis & treatment selectivity. Implementing
precision medicine globally must have legislation & regulation.

243. The Conversation:
Tuckers (2021) Precision Medicine Implementation
© 2025 Safia Fatima Mohiuddin

244. What is Precision Medicine?
[28] Cullen, T. (2021). Improving Patient Experience During In-Office Procedures; Using PARVA -
Patient Augmented Reality Vibratory Array; Using Precision Medicine to Improve Prevention and
Reduce the Cost of Healthcare. [online] Virginia.edu. Available at:
https://libraetd.lib.virginia.edu/public_view/th83m014j.
Tucker’s
Precision
Medicine
Solution:
Patient
Augmented
Reality
Vibratory Array
(PARVA)
Tucker’s Precision Medicine Implementation [28]
Tucker & team’s Proposed Precision Medicine Application: Patient
Augmented Reality Vibratory Array (PARVA)

➔Purpose & Prototype: The primary purpose is to improve
prevention & reduce healthcare costs. Technological
advancement makes precise, data-driven treatment plans
possible & procedures less invasive. Implementation challenges
exist in expenses involved & stress for patients involved in
minimally invasive in-office procedures. Tucker proposes a
multisensory stimulation device to reduce patient pain
perception during in-office otolaryngology procedures. The
procedures are performed under local anesthesia, making it
stressful for patients to remain coherent. Tucker & team
achieved greater comfort & accessibility using augmented reality
immersion & vibratory stimulation.

245. What is Precision Medicine?
[28] Cullen, T. (2021). Improving Patient Experience During In-Office Procedures; Using PARVA -
Patient Augmented Reality Vibratory Array; Using Precision Medicine to Improve Prevention and
Reduce the Cost of Healthcare. [online] Virginia.edu. Available at:
https://libraetd.lib.virginia.edu/public_view/th83m014j.
Tucker’s
Precision
Medicine
Solution:
Patient
Augmented
Reality
Vibratory Array
(PARVA)
Tucker’s Precision Medicine Implementation [28]
Tucker & team’s Proposed Precision Medicine Application: Patient
Augmented Reality Vibratory Array (PARVA)

➔Problem Statement: Currently, poor & uninsured individuals
cannot afford new treatment & same level of personalization as
the rich due to limited resources on their genome. To reduce
uncertainty using precision medicine, the business model of
private health insurance companies could incur changes leaving
vulnerable groups without insurance coverage.
➔Opportunity and Challenge: In-office procedures (IOPs) that
were originally performed in the OR allow increased patient
safety, decreased cost & length of procedure & better overall
outcomes by avoiding general anesthesia & intubation. The
stress involved creates challenges for physicians, sometimes
preventing successful completion.

246. What is Precision Medicine?
[28] Cullen, T. (2021). Improving Patient Experience During In-Office Procedures; Using PARVA -
Patient Augmented Reality Vibratory Array; Using Precision Medicine to Improve Prevention and
Reduce the Cost of Healthcare. [online] Virginia.edu. Available at:
https://libraetd.lib.virginia.edu/public_view/th83m014j.
Tucker’s
Precision
Medicine
Solution:
Patient
Augmented
Reality
Vibratory Array
(PARVA)
Tucker’s Precision Medicine Implementation [28]
Tucker & team’s Proposed Precision Medicine Application: Patient
Augmented Reality Vibratory Array (PARVA)

➔The Solution & Benefits: Creating a non-pharmacologic
sensory stimulation device can reduce patient anxiety using AR
& an integrated vibroacoustic component to reduce discomfort.
-IOPs enable higher procedure volume, improve patient safety,
decrease cost & enhance patient outcomes.
-The proposed AR software component with integrated vibratory
device will be developed as Third Eye Gen X2 mixed reality
headset. Electrical components & microcontrollers will be used
to design the vibroacoustic component. 3D printers & soldering
equipment were used as prototyping tools.

247. What is Precision Medicine?
[28] Cullen, T. (2021). Improving Patient Experience During In-Office Procedures; Using PARVA -
Patient Augmented Reality Vibratory Array; Using Precision Medicine to Improve Prevention and
Reduce the Cost of Healthcare. [online] Virginia.edu. Available at:
https://libraetd.lib.virginia.edu/public_view/th83m014j.
Tucker’s
Precision
Medicine
Solution:
Patient
Augmented
Reality
Vibratory Array
(PARVA)
Tucker’s Precision Medicine Implementation [28]
Tucker & team’s Proposed Precision Medicine Application: Patient
Augmented Reality Vibratory Array (PARVA)

➔The Future: NGS technologies requires less cost/time owing to
advanced computing, improved bioinformatics algorithms &
faster processors. This assists personalized clinical
decision-making with the right selection of drugs.
-Uninsured population, moreso those at-risk must be covered.
-Lack of diversity in genetic resources must be overcome.
-Several stakeholders will contribute to precision medicine
implementation - scientists, engineers & business people.
-Data-driven decisions with patient participation will be possible.
-Doctors will become expert analysts & doctor-patient
relationship will undergo significant shift. Policy makers will need
to assume a proactive approach to reform healthcare.

248. © 2025 Safia Fatima Mohiuddin
“Era 1 is the era of professional dominance. Era 2 is the era of
accountability and market theory. Let era 3 be the moral era.
Era 1 enthusiasts will find that prescription abrasive. Era 2
devotees will find it naive.But the discord is not helping
clinicians, communities, or patients.
Without a new moral ethos, there will be no winners.”
- Dr. Donald M. Berwick, Institute for Healthcare Improvement
Source: [2]D. M. Berwick, “Era 3 for Medicine and Health Care,” JAMA, vol. 315, no. 13, p. 1329, Apr.
2016, doi: https://doi.org/10.1001/jama.2016.1509.
Berwick’s Era 3 of Medicine
“

249. About the Author







Safia Fatima Mohiuddin
Researcher and Scientific Writer

BCA (Osmania University)
MSc Bioinformatics (IASE University)
Graduate Certificate Healthcare Management
(Clarkson University Graduate School USA)

© 2025 Safia Fatima Mohiuddin

Safia Fatima Mohiuddin is a researcher and
scientific writer with over a decade of content
development experience in Bioinformatics,
Health Administration & Safety, Artificial
Intelligence & Data Science. Her present
research areas include public health,
multi-omics approaches to disease prevention
& computational neuroscience.

For queries, comments, or information on how
to use this book in your context, contact:
Email: [email protected];
[email protected]
Mobile: [phone];
Hyderabad, Telangana 500024, India;

250. © 2025 Safia Fatima Mohiuddin