Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings

Abstract

Contrasting opinions exist regarding the disclosure of incidental findings detected through clinical genomic testing. This study used a discrete choice experiment to investigate genetic health professionals' preferences for the disclosure of incidental findings in an Australian paediatric setting. Four attributes of conditions relating to incidental findings were investigated: availability of prevention and treatment, chance of symptoms ever developing, age of onset and severity. Questionnaires from 59 Australian genetic health professionals were analysed. Results show that when evaluating incidental findings for disclosure, these professionals value the availability of prevention and treatment for the condition above all other characteristics included in the study. The framework of this discrete choice experiment can be used to investigate the preferences of other stakeholders such as paediatricians and parents about disclosure of incidental findings. The results of this study may be considered when assessing which categories of incidental findings are most suitable for disclosure in clinical practice.

Figure 1

Discrete choice experiment design. (a) Attributes (characteristics) and levels (values) used in the discrete choice experiment. Ascribed numerical values for levels are shown in brackets. (b) Example of a discrete choice set provided to respondents in questionnaire. Respondents were presented with a hypothetical scenario involving a 3-year-old boy who is not reaching his developmental milestones. A genomic chromosomal microarray test is performed and an IF is detected. Respondents were asked to choose between characteristics of two different unnamed IFs and indicate which they would be more likely to disclose to the boy's parents.