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Genetic Resources

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  • 1. Family History, Genetic, and Genomic Resources
  • 2. Why is Family History Important?
    Family history is a powerful tool that can focus your personal health promotion and disease prevention efforts 
  • 3. No Matter the Setting, the Most Important Tool for risk assessment is the family history
     
  • 4. Standard Pedigree Nomenclature
  • 5. The Family Tree
    2
    2
    2
    2
    Maternal grandmother
    Maternal grandfather
    Paternal grandmother
    Paternal grandfather
    1
    1
    2
    2
    Father
    Aunt
    Mother
    Uncle
    Patient (proband) is indicated by an arrow
    1 = First degree relatives share ½ of their genes with the proband
    2= Second degree relatives share ¼ of their genes with the proband
    1
    1
    Brother
    Sister
    1
    Child
  • 6. How to Take a Family History
    • The family medical history should consist at a minimum of first-degree relatives (parents, children, and siblings) and second-degree relatives (grandparents, aunts, uncles, cousins, nieces and nephews).
    • 7. Ask about major medical problems such as cancer, heart disease, and diabetes, birth defects (i.e. spina bifida, cleft lip), learning problems and mental retardation, and vision loss/hearing loss at a young age.
    • 8. Determine the age at which the individual was diagnosed.
    • 9. For all deceased family members, be sure to include the age at which the individual died, as well as the cause of death.
    • 10. Determine the individual’s ethnicity, as many genetic disorders vary in frequency among different ethnic groups.
  • Family histories are dynamic, diagnoses require verification
    • Update the family history annually
    • 11. With the passage of time, additional diagnoses may have been made
    • 12. Many patients do not know the details of their family history.
    • 13. Historical information needs to be verified with records in order to accurately assess risk.
  • Family histories are dynamicand need verification
    Initial History
    2 years later
    Breast Ca, 59
    Breast ca, 59
    Ovarian
    Ca, 49
    Low Risk
    High Risk
  • 14. Surgeon General Family History Tool
    • My Family Health Portrait (https://familyhistory.hhs.gov/
    • 15. Free, online, pedigree can be saved and updated
    • 16. Allows the user to construct their pedigree at home, where he/she can consult with other family members to insure the maximal level of accuracy of the information, then bring it or send as an electronic file to the physician’s office
  • My Family Health Portrait
    • A report is generated that includes a pedigree drawing, and a listing of the family history data entered
  • Family HealthLinkhttps://familyhealthlink.osumc.edu
    If assessment is “high risk”  genetic counseling and possibly testing warranted
  • 17. Family HealthLinkA free tool for your patients to use online
    • https://familyhealthlink.osumc.edu
    • 18. Provides cancer and coronary heart disease risk assessment based on family history
    • 19. High, moderate, low risk categories
    • 20. Allows the user to print and save PDF file to home computers, share with their healthcare team
  • Using Family History for Disease Prevention
    Classification
    Intervention
    Assessment
    Standard prevention recommendations
    Average
    Family History
    Tool
    Personalized prevention recommendations
    Moderate
    Referral for genetic evaluation and personalized prevention recommendations
    High
    Paula W. Yoon, ScD, MPH Office of Genomics & Disease Prevention, CDC
  • 21. If any of the following apply, refer for genetic consultation
    • A personal or family history of a single gene disorder, biochemical abnormality, birth defect, mental retardation, or chromosomal disorder.
    • 22. A person having two or more close relatives on the same side of the family with the same or related condition (e.g. breast cancer, heart disease, Parkinson disease).
    • 23. A person having a disease at an earlier than expected age (e.g. colon cancer before age 50; cardiovascular disease in a male prior to age 55 years, in a female prior to age 65 years)
    • 24. A person with more than one primary disease, or exceptional presentation of common conditions (e.g. breast and ovarian cancer in the same person)
    • 25. Abnormal or unusual test results for which you have no explanation
    • 26. Two or more unexplained pregnancy losses (miscarriages).
    • 27. A woman who is pregnant or plans to become pregnant at or after age 35.
    • 28. A person who is very anxious about their disease risk
  • Genetic Counseling:Purpose
    • Appreciate the way heredity contributes to disease risk, and health
    • 29. Understand an individual’s risk of developing a specific disease
    • 30. Understand the options for dealing with an increased risk
    • 31. Choose a course of action for managing risk that seems personally appropriate (genetic testing, screening or long-term follow up)
  • Genetic Counseling:What happens
    Collection of personal and family history (3 generation pedigree)
    Education and risk assessment
    Options for genetic testing and medical management
    Discussion of risks, benefits and limitations
    Screening and Prevention Strategies
    Follow-up
    Provide psychosocial support
    Family members
  • 32. OSU CPHC
    To speak with or refer a patient to the OSU Center for Personalized Health Care genomics concept clinic, click here
  • 33. How to find a genetic counselor in your area
    National Society of Genetic Counselors offers a searchable directory of genetic counselors (http://www.nsgc.org/resourcelink.cfm).
    One can search by city, name, area of practice and zip code.
  • 34. Gene Tests
    Publicly funded medical genetics information resource developed for physicians, other healthcare providersGeneReviews
    Expert-authored peer-reviewed disease descriptionsLaboratory Directory
    International directory of genetic testing laboratoriesClinic Directory
    International directory of genetics and prenatal diagnosis clinicsEducational Materials
    Illustrated glossary, information on genetic services, PowerPoint® presentations, annotated Internet resources
  • 35. CDC's Evaluations of Genomic Applications in Practice and Prevention EGAPP
    To keep abreast of the current trends in the translation from basic research discoveries to clinical practice
    http://www.egappreviews.org/
    EGAPP project's mission is to review the literature and clinical trial results, and assess how ready any given effort is to be translated into routine clinical practice or public health policy.
    This website provides a summary of the current opinion that often shapes the FDA's decisions to approve products and services for use in the clinic, and often allows one to assess the current state of a specific effort and anticipate developments that will arise in the near future.
  • 36. National Coalition for Health Professional Education in Genetics (NCHPEG)
    http://www.nchpeg.org/
    Continuing education materials on genetics and health developed in association with the American Academy of Family Physicians
  • 37. AMA and the FDA online CME course
    Pharmacogenomics and Personalized Medicine
    AMA website (http://www.ama-assn.org/ama/home/index.shtml)
  • 38. CERTs
    • AHRQ's Centers for Education and Research on Therapeutics (CERTs) provide information intended to educate the physician on the use of therapeutic drugs, including new developments in pharmacogenomics (http://www.ahrq.gov/clinic/outcomix.htm#CERTs).
  • dbSNP
    • The NCBI database of SNPs.
    • 39. Good for finding SNP locations, basic info and frequencies in various populations. http://www.ncbi.nlm.nih.gov/projects/SNP/
  • SNPedia
    User-curated database of SNPs and their associations
    Useful starting place to look up a disease and related SNPs or vice versa
    http://www.snpedia.com
  • 40. PharmGedEd module II:  Clinical Applications of Pharmacogenomics
    http://www.scivee.tv/node/14506
  • 41. NCCN (National Comprehensive Cancer Network)
    Contains guidelines for management of increased cancer risk. http://www.nccn.org/index.asp
  • 42. Genomes Unzipped
    (http://www.genomesunzipped.org/).
    resource for the non-expert on various topics related to  personal genomics
  • 43. Application for “TimeTree” of Life
    (http://scienceblog.com/38798/new-app-for-genes-on-earth-is-tool-for-scientists-and-entertaining-for-all-2/).
    Tool to track common ancestry of organisms