Genetic risk estimation by healthcare professionals
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.
|Keywords||Australia, Bayes Theorem, Clinical Competence, Genetic Screening/*utilization, Genetic Services/*statistics & numerical data, Great Britain, Humans, Huntington Disease/*diagnosis/*genetics, Italy, Netherlands, Pedigree, Probability Theory, Risk Assessment/methods/statistics & numerical data|
Bonke, B., Tibben, A., Lindhout, D., Clarke, A.J., & Stijnen, Th.. (2005). Genetic risk estimation by healthcare professionals. Medical Journal of Australia. Retrieved from http://hdl.handle.net/1765/10374