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Family History for Public Health and Preventive Medicine: Developing a Research Agenda
• Paula Yoon, ScD, MPH
Office of Genomics & Disease PreventionCDC
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 theworkshop --
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 CVD 58 mill 2.0 – 5.4Breast cancer 3 mill wom 2.1 – 3.9Colorectal incid = 130,000 1.7 – 4.9Prostate incid = 200,000 3.2 – 11.0Melanoma 200,000 2.7 – 4.3Type II diabetes 13 mill 2.4 – 4.0Osteoporosis 8 mill wom 2.0 – 2.4
2 mill menAsthma 17 mill 3.0 – 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 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
Evaluation framework
Effective Intervention(Benefit)
NaturalHistory
EconomicEvaluation
QualityAssurance
Education Facilities
PilotTrials
Monitoring&
Evaluation
Ethical, Legal, &Social Implications
(safeguards& impediments)HealthRisks
ClinicalSpecificity
ClinicalSensitivity Prevalence
PPVNPV
Penetrance
Assay Robustness
QualityControl
AnalyticSpecificity
AnalyticSensitivity
Disorder&
Setting
Analytic validity --
How accurately and reliably does the FH tool identify disease among a person’s relatives?
FH tool
“gold standard” + -
+ A B - C Danalytic 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
Evaluation framework
Effective Intervention(Benefit)
NaturalHistory
EconomicEvaluation
QualityAssurance
Education Facilities
PilotTrials
Monitoring&
Evaluation
Ethical, Legal, &Social Implications
(safeguards& impediments)HealthRisks
ClinicalSpecificity
ClinicalSensitivity Prevalence
PPVNPV
Penetrance
Assay Robustness
QualityControl
AnalyticSpecificity
AnalyticSensitivity
Disorder&
Setting
Potential of family history
Jim Fixx 1932 - 1984