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- Title
Genetic risk estimation by healthcare professionals.
- Authors
Bonke, Benno; Stijnen, Theo; Tibben, Aad; Lindhout, Dick; Clarke, Angus J
- Abstract
Objectives: To assess whether healthcare professionals correctly incorporate the relevance of a favourable test outcome in a close relative when determining the level of risk for individuals at risk for Huntington's disease. Design and setting: Survey of clinical geneticists and genetic counsellors from 12 centres of clinical genetics (United Kingdom, 6; The Netherlands, 4; Italy, 1; Australia, 1) in May–June 2002. Participants were asked to assess risk of specific individuals in 10 pedigrees, three of which required use of Bayes' theorem. Participants: 71 clinical geneticists and 41 other healthcare professionals involved in genetic counselling. Main outcome measures: Proportion of respondents correctly assessing risk in the three target pedigrees; proportion of respondents who were confident of their estimate. Results: 50%–64% of respondents (for the three targets separately) did not include the favourable test information and incorrectly estimated the risks as being about equal to the prior risks; 77%–91% of these respondents were "sure" or "completely sure" that their estimations were correct. Twenty of the 112 respondents correctly estimated the risks for all three target pedigrees. Conclusions: Clinical geneticists and genetic counsellors frequently use prior risks in situations where Bayes' theorem should be applied, leading to overestimations of the risk for an individual.
- Publication
Medical Journal of Australia, 2005, Vol 182, Issue 3, p116
- ISSN
0025-729X
- Publication type
Article
- DOI
10.5694/j.1326-5377.2005.tb06610.x