Bayesian statistics in human genetics

Abstract

Using of the Bayes’ method in genetic counseling allows clarifying of the probability of a disease in the offspring, which in some cases can save probands from additional laboratory diagnostic tests due to the extremely low risk which can be calculated. The article is devoted to the usage of the Bayes’ method in human genetics. The concepts of a priori, conditional, total and posterior probabilities are introduced. As an example, a pedigree with a monogenic recessive X-linked trait is considered. An algorithm for calculating of the probability that a patient is a carrier of a pathological gene is presented. The prediction of results made with help of using the classical method of calculations and the Bayesian method are compared. An example for calculation of the gene mutation rate based on epidemiological and genetic data is given. The discussed topic can be taken into account for presenting of courses in human genetics and medical genetics at classical and medical universities, and the given problem can serve as an example for drawing up of tasks for students with pedigrees of various configurations and other attributes.

Keywords: Bayesian method, a priori probability, posterior probability, teaching of genetics, genetic counseling.