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JMD 2004, Vol. 6, No. 1
Copyright © 2004 American Society for Investigative Pathology & Association for Molecular Pathology

Bayesian Analysis and Risk Assessment in Genetic Counseling and Testing

Shuji Ogino*{dagger}{ddagger} and Robert B. Wilson§

From the Department of Pathology, * Brigham and Women’s Hospital, Boston, Massachusetts; the Department of Medical Oncology, {dagger} Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, {ddagger} Boston, Massachusetts; and the Department of Pathology and Laboratory Medicine, § University of Pennsylvania Medical Center, Philadelphia, Pennsylvania

Risk assessment is an essential component of genetic counseling and testing, and Bayesian analysis plays a central role in genetic risk assessment. Bayesian analysis allows calculation of the probability of a particular hypothesis, either disease or carrier status, based on family information and/or genetic test results. Genetic risk should be assessed as accurately as possible for family decision making. Additional information, from the pedigree and/or from genetic testing, can often dramatically improve the accuracy of genetic risk assessment. We illustrate herein the application of Bayes’ theorem and describe important basic principles in genetic risk assessment.




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