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Probability and likelihood in genetic counselling
Author(s) -
Edwards A. W. F.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03192.x
Subject(s) - interpretation (philosophy) , inference , genetic counseling , psychology , computer science , artificial intelligence , biology , genetics , programming language
The aim of this paper is to clarify some of the concepts used in the calculation of risk in genetic counselling. The use of probability as a measure of risk in a particular case is reviewed, with special reference to the Fisher ‐ Neyman controversy. The technical concept of likelihood is then introduced and applied to risk probabilities themselves. The difficulties of interpretation are discussed, with a distinction drawn between calculating the risk for a child and inferring the genotype of his mother, even though the risk is wholly determined by the genotype. Fiducial inference is briefly mentioned, and the paper ends with a discussion of the problem which arises when the functional relationship between an unknown parameter and the unknown risk is not 1:1. The conclusion is tentatively reached that risk can only be gauged by probability and thus that prior probabilities must sometimes be assumed, but the paper is primarily intended as a guide and catalyst for the informed discussion of some of the difficulties, which may involve ethical dilemmas.