对临床确定的不确定意义变异(VUS)进行重新分类的家庭研究可能会影响风险评估,医疗管理,以及患者及其家人的心理后果。患者及其家属积极参与VUS重新分类的途径有限,大多数商业实验室的家庭研究受到多种因素的限制。探讨患者对参与VUS重新分类家庭研究的态度,在一项基于家庭的VUS重新分类研究中,我们对38名参与者进行了半结构化的参与前和参与后电话访谈,该研究利用患者驱动的方法进行家庭确定和招募.参与者接受了在多个临床实验室进行的多基因小组测试的VUS,以进行癌症或其他疾病风险。转录访谈的归纳主题分析突出了四个主要主题:(a)参与者的研究目标是由解决与VUS相关的不确定性的愿望驱动的,(b)参与者对研究的VUS重新分类结果有不同的反应,(c)个人,public,和家庭知识通过研究参与增加和(d)参与者使用研究参与积极应对VUS的不确定性。随着个性化基因组医学变得越来越普遍,临床医生,临床实验室,研究人员可以考虑创造更多与患者和家庭积极合作的机会,他们有动力为家族性VUS研究提供数据。
Family studies to reclassify clinically ascertained variants of uncertain significance (VUS) can impact risk assessment, medical management, and psychological outcomes for patients and their families. There are limited avenues for patients and their families to actively participate in VUS reclassification, and access to family studies at most commercial laboratories is restricted by multiple factors. To explore patient attitudes about participation in family studies for VUS reclassification, we conducted semistructured pre- and post-participation telephone interviews with 38 participants in a family-based VUS reclassification
study that utilized a patient-driven approach for family ascertainment and recruitment. Participants had VUS from multigene panel testing performed at multiple clinical laboratories for cancer or other disease risk. Inductive thematic analysis of transcribed interviews highlighted four major themes: (a) Participants\'
study goals were driven by the desire to resolve uncertainty related to the VUS, (b) Participants had mixed reactions to the VUS reclassification outcomes of the
study, (c) Personal, public, and familial knowledge increased through
study participation and (d) Participants used
study participation to actively cope with the uncertainty of a VUS. As personalized genomic medicine becomes more prevalent, clinicians, clinical laboratories, and researchers could consider creating more opportunities for active partnership with patients and families, who are motivated to contribute data to familial VUS studies.