Deriving and Using a Risk Figure

R. J. McKinlay Gardner, Grant R. Sutherland and Lisa G. Shaffer

in Chromosome Abnormalities and Genetic Counseling

Fourth edition

Published on behalf of Oxford University Press

Published in print November 2011 | ISBN: 9780195375336
Published online October 2012 | e-ISBN: 9780199975174 | DOI:

Series: Oxford Monographs on Medical Genetics

Deriving and Using a Risk Figure

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RISK IS A CENTRAL CONCEPT in genetic counseling. By risk, we mean the probability that a particular event will happen. Probability is conventionally measured with a number ranging from 0 to 1. A probability (p) of zero means never, and a probability of 1 means always. For two or more mutually exclusive possible outcomes, the individual probabilities sum to 1.0 (or 100%). Thus, someone who is a heterozygote for a particular rearrangement might, in any given pregnancy, have a probability of 0.10 (10%) of having an abnormal child and a probability of 0.90 (90%) of having a normal child. We may speak in terms of risks of recurrence or of occurrence: the probability that an event will happen again, or that it will happen for the first time. Risk can also be presented as odds: the ratio of two mutually exclusive probabilities. The odds for the preceding hypothetical heterozygote would be 9:1 in favor of a normal child.

The work risk has two important meanings in the English language. First, there is the scientific sense of probability that we already discussed. Second, as most people use the word, it conveys a sense of exposure to danger. Our hypothetical heterozygote runs the risk that an unfortunate outcome may occur (an abnormal child, or an abnormal result at prenatal diagnosis). In the genetic counseling clinic these meanings of risk coalesce in some ways, to which the counselor needs to be sensitive. We might instead use such everyday words as chance or likelihood, which have no negative connotation, to refer to the fortunate outcome of normality. The words fortunate and unfortunate are also chosen deliberately: the wanted or the unwanted event will occur entirely by chance, analogous to tossing a coin, throwing a dice, or being dealt a card.

Chapter.  3696 words.  Illustrated.

Subjects: Clinical Genetics

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