Analytic validity |
An indicator of how well a test or tool measures
the property or characteristic (disease status
among relatives) that it is intended to
measure |
Analytical sensitivity
Analytical specificity |
Clinical validity |
A measurement of the accuracy with which a
test or tool identifies or predicts a clinical
condition |
Clinical sensitivity
Clinical specificity
Positive predictive value
Negative predictive value |
Clinical utility |
Degree to which benefits are provided by
positive and negative test results (presence
and absence of family history for disease) |
Availability of effective interventions
Health risks and benefits
Economic assessment |
Ethical, legal, and
social implications |
Issues affecting data collection and
interpretation that might negatively impact
individuals, families, and society |
Stigmatization
Discrimination
Psychological harm
Risks to privacy and confidentiality |
Analytic validity |
What is the sensitivity and specificity for reporting each disease included in the tool and how does
the sensitivity and specificity vary by: |
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1) Type of relative (e.g., parents, siblings, children, grandparents, aunts and uncles)
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2) Proband characteristics (e.g., age, gender, race/ethnicity, socioeconomic status, and disease
status)
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3) Disease characteristics (e.g., prevalence, morbidity, mortality, diagnostic criteria, and social
acceptability)
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4) Disease terminology (e.g., heart disease vs coronary artery disease)
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5) Phrasing of the question (e.g., “Have you ever had. . .” vs “Has a doctor ever told you that you had. . .”)
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How accurate is age of onset information? |
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What settings yield more valid information? |
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What formats yield more valid information? |
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What gold standards exist to validate the reported data? |
Clinical validity |
Does the clinical validity improve if age of diagnosis is known? |
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Does information about distant relatives (second- and third-degree) improve clinical validity? |
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What is the relative risk associated with each disease for each strata of the family history risk classification
scheme (i.e., high, moderate, and average)? |
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What is the prevalence of the disease in each population to be screened? |
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What is the probability that a person will develop disease given a positive or negative family history? |
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How valid is the risk classification system for predicting disease? |
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What classification system for family history risk results in the highest predictive value? |
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Has the tool been adequately validated in populations to which it may be offered? |
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How often should family history information be updated? |
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What are the factors (e.g., genetic, environmental, and behavioral) that modify the relationship
between familial risk and disease occurrence? |
Clinical utility |
What is the natural history of the disease (may determine when family history should first be
ascertained)? |
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Are there effective interventions for primary and/or secondary prevention? |
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Is there general access to the interventions? |
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What strategies could be adopted to improve compliance with recommended interventions? |
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Are educational materials available to explain familial risk and the recommended interventions? |
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What is the short-term and long-term impact of a positive or negative family history on screening
and disease prevention? |
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Are there any health risks associated with the family history assessment and subsequent
interventions? |
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What are the financial costs associated with the family history assessment? |
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What are the economic benefits associated with interventions resulting from the assessment? |
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What methods exist for evaluating and monitoring the family history assessment process and its
benefits and risks? |
Ethical, legal,
& social
implications |
Are there legal issues regarding informed consent, ownership of the data, obligation to disclose, or
reporting requirements? |
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What is known about stigmatization, discrimination, privacy/confidentiality, and personal/family and
social issues associated with family history assessment and risk labeling? |
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What safeguards have been described to protect privacy and are these safeguards in place and
effective? |