title: Bayesian analysis and risk assessment in genetic counseling and testing.
abstract: 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.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA. sogino@partners.org
authors.forename: Shuji
authors.initials: S
authors.lastname: Ogino
authors.forename: Robert B
authors.initials: RB
authors.lastname: Wilson
mesh_terms: D001499:Bayes Theorem; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D012307:Risk Factors