Ethical and Social Issues in Genetics and Genomics.pptx

Ethical and Social Issues in Genetics and Genomics.pptx

1. Ethical and Social Issues in Genetics and Genomics

2. HIPAA Privacy Rule: Protecting Genetic Information with Defined Exceptions The HIPAA Privacy Rule sets criminal and civil penalties for unauthorized disclosure of genetic information without proper authorization, except under specific circumstances. Genetic information receives special attention due to its implications for other family members. PRIVACY OF GENETIC INFORMATION Privacy regulations for genetic information differ across the globe and within different jurisdictions in the same country. In the United States, the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule is the primary regulation governing the privacy of health information, including genetic information. Privacy of Genetic Information: Understanding Legal Protections and Ethical Dilemmas

3. Privacy Issues for Family Members in a Family History Patients have the freedom to provide their physicians with a complete family medical history and discuss familial conditions. The HIPAA Privacy Rule does not prevent individuals from gathering medical information about their family members or sharing this information with their healthcare providers. Family medical history becomes part of the individual's medical record and is treated as protected health information about the individual, not the family members included in the history.

4. Duty to Warn and Permission to Warn Ethical Dilemmas: Balancing Patient Autonomy and Family Health Genetic medicine raises ethical and legal dilemmas when a patient's insistence on strict confidentiality prevents the disclosure of important genetic risk information to other family members. Should a genetics practitioner respect the patient's autonomy and keep the information confidential, or should they inform other family members and their healthcare providers? Precedent-setting cases like Tarasoff v the Regents of the University of California and Safer v Estate of Pack have addressed the duty to warn relatives about genetic risks, even against a patient's wishes for confidentiality.

5. Duty to Warn and Permission to Warn A duty to warn arises when the geneticist or healthcare practitioner has an ethical or legal obligation to inform family members about their genetic risks. Previous court rulings have mandated a duty to warn in cases where the risks are comparable to infectious diseases or physical harm. Simply informing the patient about the hereditary nature of the condition may not fulfill the practitioner's duty to warn relatives.

6. Contrary to widespread belief, the HIPAA Privacy Rule permits physicians to disclose protected health information about a patient to other healthcare providers, including genetic information. International Guidelines and Case Law International health organizations, national health policy groups, and medical organizations provide varying guidelines on the duty to inform family members about genetic risks. In the United States, inconsistent case law from state courts adds complexity to the issue, alongside legislative and regulatory mandates like the HIPAA Privacy Rule.

7. Duty to Warn: Patient Autonomy and Privacy versus Preventing Harm to Others woman has been diagnosed with an autosomal dominant disorder and carries a particular mutation in a gene associated with the disorder. She plans to discuss the results with her teenage daughter but wants to withhold this information from her younger adult half-siblings. The challenge for the practitioner is to balance the patient's right to privacy with the obligation to prevent potential harm to the relatives who may be at risk. 1. Penetrance and Severity: What is the penetrance of the disorder, and is it age dependent? How serious is the disorder? Can it be debilitating or life-threatening? 2. Expressivity and Interventions: How variable is the expressivity? Are there interventions that can reduce the risk for disease or prevent it altogether? Is this a condition that will be identified by routine medical care, once it is symptomatic, in time for institution of preventive or therapeutic measures? Duty to warn Clinical Questions 1 2

8. Duty to Warn: Patient Autonomy and Privacy versus Preventing Harm to Others Was the patient informed at the time of testing that the results might have implications for other family members? Did she understand in advance that she might be asked to warn her relatives? What are the reasons for withholding the information? Are there unresolved issues, such as resentment, feelings of abandonment, or emotional estrangement , that are sources of psychological pain that could be addressed for her own benefit as well as to help the patient clarify her decision making? Are the other family members already aware of the possibility of this hereditary disease, and have they made an informed choice not to seek testing themselves? Would the practitioner’s warning be seen as an unwarranted intrusion of psychologically damaging information, or would their risk come as a complete surprise? Counseling Questions 3

9. Duty to Warn: Patient Autonomy and Privacy versus Preventing Harm to Others Information and Resources: Does the practitioner have the necessary information and resources to contact the half-siblings without the patient's cooperation? Practical considerations play a role in determining the feasibility of warning the relatives. Advance Agreements: Could the practitioner have reached an agreement with the patient in advance regarding informing the siblings? While seeking such an agreement may be seen as coercive, it can also be a proactive measure to promote the patient's own well-being and that of her children. Duty to Warn: What constitutes an adequate discharge of the practitioner's duty to warn? Is providing a minimal amount of information through a form letter sufficient to inform the relatives of potential risks? Legal and Practical Questions: 4

10. The ethical principle of justice requires equal access to the benefits of medical genetics The use of genetic information in employment and health insurance raises concerns about potential discrimination. In the United States, the Genetic Information Nondiscrimination Act (GINA) of 2008 prohibits employers with 15 or more employees from using genetic information in employment decisions. GINA prohibits most group health insurers from denying coverage or adjusting premiums based on genetic information. However, outside of the United States, equivalent laws are not universally in place, and genetic discrimination remains a concern. Use of Genetic Information by Employers and Insurers

11. GINA does not cover life, disability, and long-term care insurance. Insurers argue that they need access to an individual's pertinent genetic information when making decisions about these policies. The concern is adverse selection, where individuals with private knowledge of being at higher risk for disease purchase extra insurance, potentially leading to increased premiums for the entire population. While there is evidence of adverse selection in some circumstances, it has not significantly impacted life, health, or disability insurance purchases. Genetic Discrimination in Health Insurance: In countries with national health systems or private health insurance that is not risk-rated, genetic discrimination in health insurance may not be an issue. However, in most other countries, there is a consensus that genetic discrimination should be prohibited, but legislation banning the practice is yet to be enacted. Life, Disability, and Long-Term Care Insurance:

12. Distinguishing Phenotypic Manifestations and Predisposing Alleles: A crucial distinction should be made between phenotypic manifestations of a disease, such as hypertension or diabetes, and predisposing alleles, such as BRCA1 mutations or APOE ε4 alleles, which may not result in overt disease. Understanding this distinction is important in determining whether genetic information should be considered relevant for insurance purposes.

13. Eugenics refers to the improvement of a population by selective breeding of its "best" specimens. The eugenics movement, popularized in the late 19th century, sought to improve the human species through selective breeding. However, eugenics was often based on social, ethnic, and economic prejudices and fueled by anti-immigrant and racist sentiments. The scientific difficulties in determining heritability and the complex nature of human traits led to the theoretical and ethical challenges associated with eugenics. While eugenics is commonly discredited due to its association with Nazi Germany, involuntary sterilization continued for many years in North America and Europe. EUGENIC AND DYSGENIC EFFECTS OF MEDICAL GENETICS The Problem of Eugenics:

14. Genetic counseling aims to help patients and families manage genetic diseases and make informed decisions about reproduction. Genetic counseling should not be confused with eugenics, which seeks to reduce the incidence of genetic diseases or specific alleles in the population. Nondirective counseling, based on individual autonomy, is the ethical foundation of genetic counseling, rejecting the idea of improving the gene pool. Despite challenges in achieving true nondirective counseling, the principles of respect for autonomy, beneficence, avoidance of maleficence, and justice guide genetic counseling practice. EUGENIC AND DYSGENIC EFFECTS OF MEDICAL GENETICS Genetic Counseling and Eugenics:

15. Dysgenics refers to the deterioration of a population's health and well-being due to the accumulation of deleterious alleles. Some medical treatments for single-gene disorders can have a dysgenic effect by reducing selection against harmful genotypes, allowing the frequency of disease-causing genes to increase. Autosomal dominant and X-linked disorders are more susceptible to dysgenic effects compared to autosomal recessive disorders. Prenatal diagnosis and pregnancy termination can have variable effects on the overall incidence of genetic diseases. In some cases, prenatal diagnosis and termination can significantly impact disease incidence, while for others, the effect may be limited due to new mutations and the distribution of susceptibility alleles among unaffected individuals. Reproductive compensation, where unaffected children are born after pregnancy termination, can potentially increase the frequency of the genetic disorder in the long term. EUGENIC AND DYSGENIC EFFECTS OF MEDICAL GENETICS The Problem of Dysgenics: