Assessment of Analytic Validity of a
Family History Tool
Analytic validity addresses how
accurately and reliably the tool identifies disease among a person’s
relatives. The key elements of analytic validity are sensitivity,
a measure of how well the family history tool identifies relatives with
disease, and specificity, a measure of how well the tool identifies the
relatives who do not have disease.
I. What factors will affect the
analytic validity of a tool?
- Setting – What settings are likely
to yield more valid information? (e.g., take home questionnaires,
telephone interviews, one time or continuous)
- Format – What formats are likely to
yield more valid information? (e.g., Web-based data collection, self
administered surveys)
- Disease – What diseases are likely
to yield more valid information? What criteria should be used
for including specific disease?
- Risk factors – Should information
about risk factors (e.g., diet, exercise, smoking) be included in
the tool?
- Other –
2. How can the sensitivity and
specificity of a tool be assessed?
3. What studies have already
assessed analytic validity?
4. What studies need to assess
analytic validity?
5. Do data sources exist that could
address analytic validity?
6. What additional studies are
needed?
Assessment of Clinical Validity of a
Family History Tool
Clinical validity addresses how well
family history of disease can be used to stratify disease risk and
predict future disease in a person. The specific elements of
clinical validity include sensitivity, specificity, and negative and
positive predictive value
1. What factors will affect the
clinical validity of the tool?
- Relatives – Should more than
first-degree relatives be included in the tool? (e.g.,
second-degree, Grandparents) –
- Disease – what diseases are likely
to yield more valid information? (issues – disease
prevalence, penetrance, comorbidities, other risk factors)
- Risk stratification – what types of
classification systems or family history scores are useful for
stratifying risk?
- Other –
2. How can the sensitivity,
specificity, and predictive value be assessed?
3. How can the attributable risk
due to family history be determined?
4. What studies have already
assessed clinical validity?
5. What studies need to assess
clinical validity?
6. Do data sources exist that could
address clinical validity?
Assessment of Clinical Utility of a
Family History Tool
Clinical utility is an assessment of the
impact and usefulness of the family history tool for individuals,
families, and society. Given a tool that has reasonable analytic
and clinical validity, would the classification of individuals into risk
groups improve the effectiveness of available early detection methods
and interventions?
1. Are public health interventions more
effective if they are targeted to high-risk groups?
2. Are individuals more motivated
to improve their health if they know they may be at higher risk than the
average population? Are they more likely to adhere to
screening recommendations?
3. Would individuals in the average
risk groups become complacent and less likely to engage in healthy
behaviors? Does the public’s perception of genetic determinism
influence behavior?
4. Is the use of family history to
stratify risk and target interventions a cost-effective approach?
5. What studies have already
assessed clinical utility?
6. What studies need to assess
clinical utility?
7. Do data sources exist that could
address clinical utility?
Ethical, Legal, and Social
Implications
Labeling a person as high- or
moderate-risk for disease may have important psychological, social, and
economic costs.
1. Is stigma associated with being
at above average risk for disease?
2. What is the psychological impact
to the individual on being at above average risk?
3. Does potential exist for
discrimination or adverse effects on personal and family life?
4. What would the informed
consent requirements be for collecting medical information about
individuals and their family members?
5. Are there effective safeguards
that should be in place to protect privacy and confidentiality?
6. What studies have already
assessed the ELSI associated with the use of family history?
7. What studies need to assess the
ELSI associated with the use of family history?
8. Do data sources exist that could
address these issues?
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