Risk assessment is an essential component of genetic counseling and testing, and the accuracy of risk assessment is critical
for decision making by consultands. However, it has been shown that genetic risk calculations may have high error rates in
practice. Risk calculations for autosomal dominant disorders are frequently complicated by age-dependent penetrance and sensitivities
of less than 100% in genetic testing. We provide methods of risk calculation for prototypical pedigrees of a family at risk
for an autosomal dominant disorder with age-dependent penetrance. Our risk calculations include scenarios in which the sensitivity
of genetic testing is less than 100%, and in which the sensitivity of genetic testing varies for different family members
at risk. Our Bayesian methods permit autosomal dominant disease probabilities to be calculated accurately, taking into account
all relevant information. Our methods are particularly useful for hereditary cancer syndromes, in which genetic testing can
seldom achieve 100% sensitivity. Our methods can be applied to many different scenarios, including those where the sensitivity
of genetic testing varies for different family members at risk.
KEY WORDS bayes - bayesian - genetic risk - risk assessment - genetic counseling - autosomal dominant - hereditary cancer - penetrance - sensitivity
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