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ABSTRACT
Purpose
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.
Methods
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.
Results
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.
Conclusions
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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Article info
Publication history
Accepted:
March 7,
2023
Received in revised form:
March 7,
2023
Received:
June 27,
2022
Publication stage
In Press Accepted ManuscriptFootnotes
Target journal: Genetics in Medicine
Identification
Copyright
© 2023 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.
