Probabilistic belief networks for genetic counseling

Abstract

This paper describes a program, GenInfer, which uses belief networks to calculate risks of inheriting genetic disorders. GenInfer is based on Pearl's (J. Pearl, Artif. Intell. 29 (1986) 241–288) algorithm for fusion and propagation in probabilistic belief networks. It is written in Common Lisp. GenInfer can calculate genotypes for any family affected with any single-gene inherited disorder. Besides considering both negative and positive information in the pedigree, GenInfer takes into account additional information about the specific disorder as well as supplementary information for family members. The output consists of genotype probabilities for all family members and estimated genetic risks for prospective children of the consultands. Belief networks provide a way to calculate probabilities for systems of conditionally dependent variables. The impacts of various pieces of information are propagated and fused in such a way that, when equilibrium is reached, each proposition can be assigned a degree of belief consistent with the axioms of probability theory. In Pearl's algorithm, information is communicated through the network by messages sent between nodes. Pearl's basic algorithm cannot directly handle multiple-connected networks, which arise in the genetic counseling domain whenever a family pedigree includes consanguinity or more than one child per couple. GenInfer makes use of two cycle breaking methods, clustering and conditioning, to handle these situations.