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Advancing the Use of Family Health History

Explore the importance of family health history in genetic testing, clinical care, and risk assessment. Learn how to store and apply this information for better patient care. Overcome barriers to integrating family history in primary care.

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Advancing the Use of Family Health History

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  1. Advancing the Use of Family Health History Scottsdale Institute Fall Conference 2010 Salt Lake City, Utah

  2. Best Genetic Test Family history remains the best and least expensive genetic ‘test’ currently available for clinical use. A major effort will entail developing ways to obtain this information – In a standardized format, Store it in the EHR, Apply risk assessment, and Develop messages to clinicians that may alter patient care based on the information obtained.

  3. Most Family History Stored as a Clinical Note • “FAMILY HISTORY: positive for diabetes, end-stage renal disease requiring hemodialysis in her father and mother, and multiple siblings have a history of coronary artery disease.” • “… No history of lung cancer. His daughter has diabetes. No history of coronary artery disease.” • “…father died at age 40 of sudden cardiac death from myocardial infarction. Mother died at age 56 with MI. He notes that 15 people have died of coronary artery disease in the last three generations of his family. Diabetes type II in multiple members of the family. Denies cancer, seizures, or hyperlipidemia.”

  4. Clinical Barriers with Family History Primary care physicians consider family history issues only about half of the time in new patient visits, and only about 22% of the time in established patient visits. The two primary reasons cited for this failure are time limitations within the context of an office visit, and lack of appropriate training to collect and analyze a clinically useful family health history. Acheson, L.S., et al., Family history-taking in community family practice: implications for genetic screening. Genet Med, 2000. 2(3): p. 180-5. Suchard, M.A., et al., General practitioners views on genetic screening for common diseases. British Journal of General Practice, 1999. 49: p. 45-46.

  5. Application Demo

  6. Application Demo

  7. Application Demo

  8. Application Demo Future prototype EHR using family health history for clinical decision support

  9. GRANT M. WOOD [Self] Austin Proband

  10. PROBAND, AUSTIN WOOD, GRANT MESSAGE LOG Patient: Wood, Grant MRN#: 232445 Contact#: H: (801) 555-1212 W:(801) 555-1234 Clinician: Williams, Marc S. WOOD, GRANT 10/01/2010 14:41 >>Entered By: OurFamilyHealth 10/1/10 14:41:47 >> A patient has logged in to his/her MyHealth patient portal account, and has completed a family health history record that shows an increased risk for a familial disease. The family history and risk assessment are available for your review. View as table View as pedigree

  11. WOOD, GRANT Chart Report Grant Wood – October 1, 2010 Yes, at age 65 Yes, at age 65 Yes, at age 77 Yes, at age 41

  12. WOOD, GRANT Increased Risk Coronary Artery Disease • 1st degree relative (Father) premature CAD (< 55 yrs) • 1st degree relative (Brother) premature CAD (< 55 yrs)

  13. PROBAND, AUSTIN WOOD, GRANT FAMILY HEALTH HISTORY RISK ASSESSMENT VIEW Recommendation for use of inflammatory marker (IM) (Hs-CRP and Lp-PLA2) testing • ASSESS CV RISK • ATP III Risk Factors See ATP III Report • Cigarette smoking • Hypertension140/90 on 8/18/2010 • Low HDL cholesterol (male <40mg/dL, female <50mg/dL) • 37 mg/dL on 7/25/2010 • Family History of premature CAD • Age (men less than 55 years, women less than 65 years) • CAD Risk Equivalents • Other clinically manifest forms of atherosclerotic disease (peripheral arterial disease, abdominal aortic aneurism, and carotid artery disease, [eg. TIA or stroke]) • Diabetes • Chronic kidney disease • Ankle-brachial index <0.9 • >50% carotid stenosis Consider inflammatory marker test to re-classify risk Low CV Risk 0-1 risk factors Moderate CV Risk 2+ risk factors High CV Risk CAD, or CAD risk equivalent Very High CV Risk i

  14. PROBAND, AUSTIN WOOD, GRANT FAMILY HEALTH HISTORY RISK ASSESSMENT VIEW Recommendation for use of inflammatory marker (IM) (Hs-CRP and Lp-PLA2) testing • ASSESS CV RISK • ATP III Risk Factors See ATP III Report • Cigarette smoking • Hypertension140/90 on 8/18/2010 • Low HDL cholesterol (male <40mg/dL, female <50mg/dL) • 37 mg/dL on 7/25/2010 • Family History of premature CAD • Age (men less than 55 years, women less than 65 years) • CAD Risk Equivalents • Other clinically manifest forms of atherosclerotic disease (peripheral arterial disease, abdominal aortic aneurism, and carotid artery disease, [eg. TIA or stroke]) • Diabetes • Chronic kidney disease • Ankle-brachial index <0.9 • >50% carotid stenosis Low CV Risk 0-1 risk factors LDL – C Goal < 160 mg/dL Moderate CV Risk 2+ risk factors High CV Risk CAD, or CAD risk equivalent LDL – C Goal < 100 mg/dL LDL – C Goal < 70 mg/dL Very High CV Risk Schedule patient for appointment Last seen on: 8/18/2010 INFLAMMATORY MARKER (IM) TEST Hs-CRP >2 mg/L or Lp-PLA2>200 ng/mL in individuals with moderate or high risk warrants reclassification See references IM TEST Order test and notify patient Not Elevated Elevated • TREAT • To LDL-C Goal • Intensify treatment of non-lipid risk factors • Therapeutic lifestyle change See references LDL – C Goal < 130 mg/dL

  15. GRANT M. WOOD

  16. GRANT M. WOOD GRANT WOOD WOOD, GRANT 10/1/2010 WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT WOOD, GRANT

  17. GRANT M. WOOD GRANT WOOD 10/01/2010

  18. Personalized Medicine Use Case Scientists find genes that could predict Type 2 diabetesInternational scientists identified five different genetic variations tied to adult-onset diabetes and believed to be responsible for 70% of the genetic risk for the diabetes, also known as Type 2. One of the lead scientists says the findings "mean we can create a good genetic test to predict people's risk of developing this type of diabetes.“ • Family history risk assessment • Order genetic test • Test interpretation • Store results (family health history, sequence data, alleles, exons, SNP’s also called variations or mutations) • Clinical decision support • Pharmacogenomics for targeted drugs

  19. Family Health History Datamart • Consolidate family history data from all electronic sources in the healthcare system • Update current electronic forms to fix inadequacies • Use data-mining tools to extract text-based family history entered into clinical notes • Prepare data to be used by clinical decision support systems • Prepare data for analysis and studies in the area of genetics and genomics, combining it with other clinical data

  20. Questions? Scottsdale Institute Fall Conference 2010 Salt Lake City, Utah

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