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Ogino_Genetic_Counselling

Ogino_Genetic_Counselling - Journal of Molecular...

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Review Bayesian Analysis and Risk Assessment in Genetic Counseling and Testing Shuji Ogino* †‡ and Robert B. Wilson § From the Department of Pathology, * Brigham and Women’s Hospital, Boston, Massachusetts; the Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, 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 anal- ysis allows calculation of the probability of a partic- ular hypothesis, either disease or carrier status, based on family information and/or genetic test re- sults. Genetic risk should be assessed as accurately as possible for family decision making. Additional infor- mation, from the pedigree and/or from genetic test- ing, can often dramatically improve the accuracy of genetic risk assessment. We illustrate herein the ap- plication of Bayes’ theorem and describe important basic principles in genetic risk assessment. (J Mol Diagn 2004, 6:1–9) The purpose of this article is to introduce basic and general principles of Bayesian analysis and genetic risk assessment for molecular pathologists who are involved in genetic testing. For further reading and for specific examples of risk calculations for autosomal recessive, autosomal dominant, and X-linked disorders, we would refer to “Introduction to Risk Calculation in Genetic Coun- seling” by Young 1 and “The Calculation of Genetic Risks” by Bridge, 2 both of which illustrate a variety of worked examples with in-depth discussions. We have illustrated detailed methods for systematic genetic risk calculations for spinal muscular atrophy (SMA) in a variety of clinical settings. 3 More advanced examples can also be found in “Bayesian risk assessment for autosomal recessive dis- eases: fetal echogenic bowel and one or no detectable CFTR mutation” 4 in which we delineate how to incorpo- rate into risk calculations information such as the pres- ence of an independent risk factor from genetic test results, genetic test results on either or both of the par- ents, the ethnic background of each parent, the overall mutation detection rate for each parent’s ethnicity, and the frequency of a mutation, if detected, among all dis- ease alleles for a particular ethnicity. Section 1: Introduction to Bayesian Analysis Reverend Thomas Bayes first described the theorem named after him in an essay on “the doctrine of chances,” published posthumously in 1763, and republished in 1958. 5 Analyses based on Bayes’ theorem are routinely applied to calculate probabilities in a wide variety of circumstances, not limited to medicine or genetics. In genetic testing, Bayesian analysis is commonly used to calculate genetic risks in complex pedigrees, and to calculate the probability of having or lacking a disease- causing mutation after a negative test result is obtained.
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