Journal of Genetic Counseling

, Volume 16, Issue 1, pp 29–39 | Cite as

Bayesian Risk Assessment in Genetic Testing for Autosomal Dominant Disorders with Age-Dependent Penetrance

  • Shuji OginoEmail author
  • Robert B. Wilson
  • Bert Gold
  • Pamela Flodman
Original Research

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.


bayes bayesian genetic risk risk assessment genetic counseling autosomal dominant hereditary cancer penetrance sensitivity 



This project has been funded in part with Federal Funds from the National Cancer Institute, National Institutes of Health. We thank Lindsay Middelton and Mei-Chiung Shih for critical reading of the manuscript.


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Copyright information

© National Society of Genetic Counselors, Inc. 2007

Authors and Affiliations

  • Shuji Ogino
    • 1
    • 2
    • 6
    Email author
  • Robert B. Wilson
    • 3
  • Bert Gold
    • 4
  • Pamela Flodman
    • 5
  1. 1.Department of Medical OncologyDana-Farber Cancer InstituteBostonUSA
  2. 2.Department of PathologyBrigham and Women’s Hospital, Harvard Medical SchoolBostonUSA
  3. 3.Department of Pathology and Laboratory MedicineUniversity of Pennsylvania Medical CenterPhiladelphiaUSA
  4. 4.Human Genetics SectionLaboratory of Genomic Diversity, National Cancer Institute at FrederickFrederickUSA
  5. 5.Department of PediatricsUniversity of California IrvineIrvineUSA
  6. 6.Department of PathologyBrigham and Women’s Hospital, Harvard Medical SchoolBostonUSA

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