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Family History for Public Health and Preventive Medicine: Developing a Research Agenda

Family History for Public Health and Preventive Medicine: Developing a Research Agenda. Paula Yoon, ScD, MPH. Office of Genomics & Disease Prevention CDC. Why this workshop --. Could disease information about a person’s close relatives be used to predict their own risk for specific diseases? .

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Family History for Public Health and Preventive Medicine: Developing a Research Agenda

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  1. Family History for Public Health and Preventive Medicine: Developing a Research Agenda • Paula Yoon, ScD, MPH Office of Genomics & Disease PreventionCDC

  2. Why this workshop -- Could disease information about a person’s close relatives be used to predict their own risk for specific diseases? Would individuals who may be at above average risk benefit from targeted interventions beyond what is recommended for the population at large ?

  3. Purpose of the workshop -- Discuss the potential of family history for disease prevention and determine what information is needed in order to assess the validity and utility of this approach.

  4. Workshop goals -- • Identify diseases and selection criteria • Describe specifications for a FH tool • Identify knowledge gaps in AV, CV, CU • Describe ethical, legal and social implications • Describe studies needed to fill knowledge gap • Identify potential sources of existing data • Describe new studies that may be needed

  5. What is family history? • reflects the consequences of genetic susceptibilities, shared environment, and common behaviors • ranges from knowing whether a parent or sibling had a specific disease to a very detailed pedigree analysis

  6. Family history for public health and preventive medicine • simple, easily applied, inexpensive • can identify people at high and moderate risk • can be used in combination with other risk factors • useful for targeting interventions • positively influences healthy behaviors

  7. Family history for public health and preventive medicine • population-based uses of FH • e.g., Behavioral Risk Factor Surveillance System • stratify risk factors by FH • target interventions • evaluate trends over time

  8. Prevalence and relative risk estimates due to family history for chronic diseases CVD 58 mill 2.0 – 5.4 Breast cancer 3 mill wom 2.1 – 3.9 Colorectal incid = 130,000 1.7 – 4.9 Prostate incid = 200,000 3.2 – 11.0 Melanoma 200,000 2.7 – 4.3 Type II diabetes 13 mill 2.4 – 4.0 Osteoporosis 8 mill wom 2.0 – 2.4 2 mill men Asthma 17 mill 3.0 – 7.0

  9. Risk estimates for colorectal cancer for 3 family history risk groups Average Moderate High (no FH) (one 1° relat) (>one 1° relat) FH preval 9/10 1/10 1/50 --- 1/8,000 Absolute 0.04 0.06 0.20 --- ~1 Relative ref 1.7 4.9 --- ~30 Attributable 0.07 0.07 --- 0.004

  10. Evaluation framework

  11. Analytic validity -- How accurately and reliably does the FH tool identify disease among a person’s relatives? “gold standard” + - +A B -C D FH tool analytic sensitivity =A / (A+C) analytic specificity =D / (B+D)

  12. Clinical validity -- How accurate and reliable is FH for stratifying disease risk and predicting future disease? Future disease + - +A B -C D FH clin sensitivity = A / (A+C) clin specificity = D / (B+D) PPV =A / (A+B) NPV = D / (C+D)

  13. Clinical utility -- What are the benefits and risks accruing from both negative and positive family history? • will targeted interventions based on FH prevent disease? • is FH useful for changing behavior? • is the approach cost-effective? • are there risks associated with collecting and using FH?

  14. Ethical, legal and social implications -- • stigma associated with above average risk • psychological impact of risk label • discrimination or adverse effects on personal and family life • informed consent requirements • safeguards to protect privacy and confidentiality

  15. Evaluation framework

  16. Potential of family history Jim Fixx 1932 - 1984

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