Genetic risk estimation by healthcare professionals
Related Experiment Video
Updated: Aug 19, 2026

Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack
Published on: May 15, 2020
Benno Bonke1, Aad Tibben, Dick Lindhout
1Department of Medical Psychology and Psychotherapy, Erasmus MC, Rotterdam, The Netherlands. b.bonke@erasmusmc.nl
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.
Related Concept Videos
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...
Probability Laws
Cancer Prevention
Some...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenomics: Identification of New Drug Targets
Heritability