Presentation on theme: "Family History for Public Health and Preventive Medicine: Developing a Research Agenda Paula Yoon, ScD, MPH Office of Genomics & Disease Prevention CDC."— Presentation transcript:
Family History for Public Health and Preventive Medicine: Developing a Research Agenda Paula Yoon, ScD, MPH Office of Genomics & Disease Prevention CDC
Could disease information about a person’s close relatives be used to predict their own risk for specific diseases? Why this workshop -- Would individuals who may be at above average risk benefit from targeted interventions beyond what is recommended for the population at large ?
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.
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
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
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
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
Prevalence and relative risk estimates due to family history for chronic diseases CVD58 mill2.0 – 5.4 Breast cancer3 mill wom2.1 – 3.9 Colorectalincid = 130, – 4.9 Prostateincid = 200, – 11.0 Melanoma200, – 4.3 Type II diabetes13 mill2.4 – 4.0 Osteoporosis8 mill wom2.0 – mill men Asthma17 mill3.0 – 7.0
Risk estimates for colorectal cancer for 3 family history risk groups Average Moderate High (no FH) (one 1° relat) (>one 1° relat) FH preval9/101/101/ /8,000 Absolute ~1 Relativeref ~30 Attributable
Analytic validity -- How accurately and reliably does the FH tool identify disease among a person’s relatives? FH tool “gold standard” A B - C D analytic sensitivity = A / (A+C) analytic specificity = D / (B+D)
Clinical validity -- How accurate and reliable is FH for stratifying disease risk and predicting future disease? FH Future disease A B - C D clin sensitivity = A / (A+C) clin specificity = D / (B+D) PPV = A / (A+B) NPV = D / (C+D)
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?
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