Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.
Genet Med. 2023 May;25(5):100819. doi: 10.1016/j.gim.2023.100819. Epub 2023 Mar 12.
Genomic sequencing can generate complex results, including variants of uncertain significance (VUS). In general, VUS should not inform clinical decision-making. This study aimed to assess the public's expected management of VUS.
An online, hypothetical survey was conducted among members of the Canadian public preceded by an educational video. Participants were randomized to 1 of 2 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 between participants' sociodemographic characteristics, attitudes, and medical history 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 health care 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 health care 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.
基因组测序可能会产生复杂的结果，包括意义不明的变异（VUS）。一般来说，VUS 不应该影响临床决策。本研究旨在评估公众对 VUS 的预期管理。
在向加拿大公众进行在线假设性调查之前，先播放教育视频。参与者被随机分配到 VUS 或结直肠癌基因中的致病性变异组，并被问及他们期望为该结果使用哪些类型的医疗服务。比较了随机分组之间的预期医疗服务使用情况，并探讨了参与者的社会人口统计学特征、态度和病史与预期医疗服务使用之间的关联。
在 1003 名受访者（完成率 60%）中，更多的参与者期望为致病性变体而不是 VUS 使用每种类型的医疗服务。然而，相当一部分参与者期望对 VUS 进行监测（73.4%）并咨询医疗保健提供者（60.9%）。有证据表明，VUS 管理的期望与遗传疾病家族史、癌症家族史、教育程度以及对医疗保健和技术的态度之间存在关联。
许多参与者期望在结直肠癌易感性基因中为 VUS 使用医疗服务，这表明患者对 VUS 管理的期望与指南推荐的护理之间存在潜在的脱节。
