Calculating risk changes after negative mutation test outcomes for autosomal dominant hereditary late-onset disorders

We demonstrate, in a specific scenario, the effect of negative test results from relatives in families at risk for an autosomal dominant hereditary late-onset disorder. A hypothetical pedigree, of a family at risk of Huntington's disease, was used to demonstrate the consequences for the risk st...

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Bibliographic Details
Published in:Heredity 2006-03, Vol.96 (3), p.259-261
Main Authors: Bonke, B, Tibben, A, Lindhout, D, Stijnen, T
Format: Article
Language:English
Subjects:
Age of Onset
Biomedical and Life Sciences
Biomedicine
Chromosome Disorders - epidemiology
Chromosome Disorders - genetics
Cytogenetics
Ecology
Evolutionary Biology
False Negative Reactions
Families & family life
Genes, Dominant
Genetic disorders
Genetic Predisposition to Disease
Genetic Testing
Genetics
Human Genetics
Humans
Huntington Disease - epidemiology
Huntington Disease - genetics
Mutation
original-article
Pedigree
Plant Genetics and Genomics
Risk
Risk Assessment
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Summary:We demonstrate, in a specific scenario, the effect of negative test results from relatives in families at risk for an autosomal dominant hereditary late-onset disorder. A hypothetical pedigree, of a family at risk of Huntington's disease, was used to demonstrate the consequences for the risk status of various family members in the case where relatives have been tested, and found to be mutation negative. We argue that accurate assessment of conditional probabilities in clinical genetics is important for individuals at risk for hereditary disorders with Mendelian transmission patterns; our formulae offer the opportunity – when simplifying assumptions are met – to determine the changed risk status of individuals in such cases.
ISSN:0018-067X
1365-2540
DOI:10.1038/sj.hdy.6800790