How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey by Chloe Mighton

Genet Med. 2023 Mar 12:100819. doi: 10.1016/j.gim.2023.100819. Online ahead of print.

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.

PMID:36919843 | DOI:10.1016/j.gim.2023.100819