GENOGRAM LECTURE-Family Medicine note.pptx

Family Medicine tools

1. INTRODUCTION TO FAMILY GENOMICS       BY     DR. E. M. BISONG FMCFM CONSULTANT FAMILY PHYSICIAN UCTH CALABAR

2. Outline Definition of terms Family genomics Genogram

3. FAMILY MEDICINE Is the medical specialty that provides continuing and comprehensive health care for the individual in a holistic manner within the context of his family and environment. It encompasses all ages, sexes and every disease entity, integrating, biological clinical and behavioural science.

4. Family The family is defined as a group of individuals connected to somebody biologically, legally or by choice from whom the person can expect a measure of support in the form of food, shelter, finance and emotional nurturing and shares a past, a present and a future with the person.

5. Gene The biologic unit of heredity, self-reproducing and located at a definite position on a particular chromosome.

6. Chromosome A chromosome is an organized structure of DNA, protein and RNA found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences.

7. Genomics Is a discipline in genetics that applies recombinant DNA, DNA sequencing methods and bioinformatics to sequence, assemble and analyze the function and structure of genomes. First degree relatives include immediate blood relatives, such as parents, siblings or children. Second degree relatives include aunts, uncles, nieces, nephews, and grandparents.

8. Genomics contd. Third degree relatives include cousin, great grandparents, great granduncles, great grandaunts. You share 50% of your genetic makeup or DNA with first degree relatives. You share 25% of your genetic makeup or DNA with second degree relatives. You share 12.5% of your genetic makeup or DNA with third degree relatives.

9. Family H ealth H istory? A family’s combination of shared genes, environment, behaviours and culture. A family health history is more than just your genetics. Families also share their environment lifestyles and habits or behaviours . Even things like our culture, support system, religious beliefs, and other traditions can be important clues in our family health history.

10. Family Health History Contd. People who have close relatives with certain diseases, like heart diseases, diabetes, and cancer, are more likely to develop those diseases themselves. Studies suggest that having a first degree relative with one of these disease can at least double a person’s risk of developing diseases; this risk generally increase with an increasing number of affected relatives, especially if their diseases was diagnosed at an early age.

11. Contd Physicians usually collect information about a patient’s family history, but often do not discuss, revisit or update it over time. Thus, they may miss opportunities to offer specific prevention recommendations for diseases that run in the patient’s family. Knowledge of increase risk for chronic disease due to family clinical management and prevention of a disease

12. Prevention strategies include Targeted lifestyle changes such as diet, exercise, and stopping smoking, Screening at earlier ages, more frequently, and with more intensive methods than might be used for average risk individuals, Use of chemoprevention such as aspirin, and Referral to a specialist for assessment of genetic risk factors

13. Diseases Risk D ue to Gene-Environment I nteractions Most common disease results from the complex interactions of multiple genes with multiple environmental factors. These factors can include long-term exposures to pollution or sunlight, behaviours such as smoking or inactivity, and cultural factors such as diet. Despite progress in sequencing the human genome, considerable research is needed to understand the genes that predispose to chronic diseases.

14. Family History and the Family Tree Family information that is needed to assess diseases risk includes the number, gender, and closeness or affected relatives, their ages at diseases onset, and any associated health conditions. Organizing this information into a detailed family tree or pedigree graphically illustrates clusters and inheritance of traits within families.

15. FAMILY GENOGRAM A genogram is a versatile clinical tool that can help the family physician to integrate a patient’s family information into the medical problem-solving process for better patient care (Water’s et al). The family genogram is a tool used by physician and other health professionals to summarize on one page a large amount of information relating to a family.

16. DEFINITION Family genogram is defined as the Diagrammatic representation of the Family tree Also a pictorial display of a person's family relationships and medical history Genogram was first developed and popularized in clinical settings by Monica McGoldrick and Randy Gerson through the publication of a book titled Genograms : Assessment and Intervention in 1985

17. The typical genogram should Cover at least three generations . Reflect the important medical problems and hereditary patterns of the family members. Show the relational dynamics and nature of relationship between key family members. Males are usually represented by squares and females by circles.

18. The Family Genogram It includes the family’s hereditary background and the risk that places on current members, along with other major medical, social and interactional influences. The genogram is also referred to as the family pedigree, family tree or genealogic chart. The genogram should indicate those conditions in the family that have hereditary significance It can be used to depict problems of a less well defined hereditary nature that appear to have a high incidence in the family. The genogram can also demonstrate problems of unknown aetiology that are common in the family. Health problem trends throughout succeeding generations of a family is valuable, because it gives offspring some idea of whether they might develop the condition.

19. The Family Genogram Contd. The genogram supplements the problem list, giving the physician an overview of the main problems affecting the family over three or more generations. Genograms make it easier for a clinician to keep in mind family members, patterns and events that may have recurring significance in a family ongoing care. The greatest barrier to the universal adoption of the genogram by practicing physicians is the time required to develop one. However Jolly and colleagues (1980) have found out this could be achieved in about 16 minutes. Also, physicians who use the genogram in their practice feel that the time is well spent. They discovered the process helps build rapport and enhances the doctor-patient relationship.

20. A genogram constructed over a series of office visits rather than at one time has shown to capture more psychosocial and biomedical information than traditional history taking (Waters et al 1994). A clinician may find that a genogram sheds new light on a difficulty case or that, in routine application, it turns up clinically significant material that otherwise would have been overlooked. Using a genogram may help dissolve resistance to exploring a patient’s personal life and transform the physician-patient relationship (Rogers & Rohrbaugh , 1991).

21. The information obtained is of therapeutic as well as diagnostic values because patients feel that the physician is truly interested in them and their family. Because the objective is to provide this information at a glance, the chart should be kept simple and brief. Symbols requiring the least possible amount of explanation should be selected to represent specific problem.

22. OBJECTIVES OF FAMILY GENOGRAM Clearly presents the history of the immediate family and its origin by showing the relationships between the various persons. Consider the family context from the generational perspective by searching for the sources of the behaviors or difficulties encountered. See at a glance the dynamic complexes which are taking or have taken place in the family system. E.g. children born out of wedlock, abortions, abandonment, etc. Identify the processes of the transmission of values, habits, difficulties as well as the phenomenon of generational repetition

23. OBJECTIVES OF FAMILY GENOGRAM CONTD. Show how the various roles and rules governing the family influence the relationships within the group Understand the effects of certain events on the family and the individual such as failures in life. Show the ties which each member of the family, whether parent or child, has with the other members of the family. Express the feelings related to conflicts, separations, distance, reunions .

24. COMPONENTS OF GENOGRAM Three or more generation The names of all family members Age or year of birth of all family members Any deaths including age at or date of death and cause Significant diseases or problems of family members

25. COMPONENTS OF GENOGRAM CONTD. Indication of members living together in the same house hold, dates of marriages and divorces A list of the first born of each family to the left with siblings listed subsequently to the right. A legend depicting all symbols used Symbols selected for simplicity and maximum visibility. The children of that marriage are indicated as the next generation line

26. In later generations, the first pregnancy (or child) is placed as the left. The family name is placed above each major family unit and the given names are placed below each symbol. An indication of either patient age or birth date with each symbol is also useful. Use 3 or more generations All members must be represented Age and year of birth of all family members

27. MEDICAL GENOGRAM SYMBOLS 27

28. Age, deaths including age at or date of death and cause Significant diseases or problems of family members Dates of marriages and divorces Major family events, occupation, losses, family migration and roles in the family Information about alignment and communication patterns Listing of first born of each family to the left, with siblings listed sequentially to the right A key depicting all symbols used

29. GENOGRAM SYMBOLS 29

30. GENOGRAM SYMBOLS 30

31. EMOTIONAL RELATIONSHIPS SYMBOLS 31

32. FAMILY RELATIONSHIPS SYMBOLS 32

33. USES OF THE GENOGRAM Concise picture of the significant relationship of the Patient/Client. Highlights the important medical problems of the family members (including those of genetic/familial significance) Presents a pictorial view of the state of the family. Helps families recognize their strengths and weaknesses.

34. USES OF THE GENOGRAM CONTD. Helps the Family Physician understand the relationships, influences, and vulnerabilities of the individuals and the conflicts within the group. Helps understand the bonds which form the basis of the family matrix whether they be harmonious, difficult or too close. Enables a consideration of the pattern of functioning of the family as a whole, without leaving anyone out

35. Reveals all the major events which touched the family (births, marriages, separations, divorces, major illnesses, adoptions, deaths, economic failures, etc) Can be used to identify repetitive patterns of behavior Helps the FP to foresee the risks of future illnesses and perturbations which may affect the family members such as diabetes, cancer, alcoholism, sexual abuse, suicide, divorce, mental illness. Gives one the opportunity to make accurate diagnosis and treatment and pursue effective preventive measures.

36. SUMMARY (COMPONENTS OF FAMILY GENOGRAM) Demographical information Biological information Household information Psychological factors Hereditary pattern Family relationships Emotional relationships Social relationships

37. SUMMARY (USES OF FAMILY GENOGRAM) Family relationship Emotional relationship Social relationship Genealogy Medicine Sociology Social work Family therapy Research Education

38. Barriers to Genetic Services Lack of genetic knowledge Lack of detailed or updated family history Lack of referral guidelines or tools to facilitate referral Lack of confidence for delivering genetic services Funding resources / insurance problems High cost of services Skepticism about validity/infinity of genetic testing

39. THANKS