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Genomic sequencing can generate complex results, including variants of uncertain significance (VUSs). In general, VUSs should not inform clinical decision-making. This study aimed to assess participants’ expected management of VUSs.
An online, hypothetical survey was conducted among members of the Canadian public, preceded by an educational video. Participants were randomized to one of two arms, VUS or pathogenic variant in a colorectal cancer gene, and asked which types of health services they expected to use for this result. Expected health service use was compared between randomization arms, and associations with participants’ sociodemographic characteristics, attitudes, and medical history and expectation to use health services for a VUS were explored.
Among 1003 respondents (completion rate 60%), more participants expected to use each type of health service for a pathogenic variant than for a VUS. However, a considerable proportion of participants expected to request monitoring (73.4%) and consult healthcare providers (60.9%) for a VUS. There was evidence to support associations between expectation to use health services for a VUS with family history of genetic disease, family history of cancer, education, and attitudes toward healthcare and technology.
Many participants expected to use health services for a VUS in a colorectal cancer predisposition gene, suggesting a potential disconnect between patients’ expectations for VUS management and guideline-recommended care.
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Accepted: March 7, 2023
Received in revised form: March 7, 2023
Received: June 27, 2022
Publication stageIn Press Accepted Manuscript
Target journal: Genetics in Medicine
© 2023 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.