Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Genet Med. 2023 Dec;25(12):100960. doi: 10.1016/j.gim.2023.100960. Epub 2023 Aug 11.
We sought to explore patient-reported utility of all types of cancer results from genomic sequencing (GS).
Qualitative study, using semi-structured interviews with patients who underwent GS within a trial. Thematic analysis employing constant comparison was used. Two coders coded transcripts, with use of a third coder to resolve conflicts.
25 patients participated: female (22), >50 years (18), European (12), Ashkenazi Jewish (5), Middle Eastern (3), or other ethnicity (5), with breast cancer history (20). Patients' perceptions of the utility of cancer GS results hinged on whether they triggered clinical action. For example, when patients were enrolled into high-risk breast cancer surveillance programs for low/moderate risk breast cancer genes, they perceived the results to be very "useful" and of moderate-high utility. In contrast, patients receiving low/moderate risk or primary variants of uncertain significance results without clinical action perceived results as "concerning," leading to harms, such as hypervigilance about cancer symptoms. Overall, having supportive relatives or providers enhanced perceptions of utility.
Patients' perceptions of cancer GS results hinged on whether they triggered clinical management. Consequently, patients who received results without clinical action became hypervigilant, experiencing harms. Our findings call for a need to develop practice interventions to support patients with cancer undergoing GS.
我们旨在探讨患者对基因组测序（GS）所产生的各种癌症结果的报告效用。
采用半结构式访谈，对参与试验中接受 GS 的患者进行定性研究。使用恒定比较进行主题分析。两位编码员对转录本进行编码，使用第三位编码员解决冲突。
共有 25 名患者参与：女性（22 人）、年龄>50 岁（18 人）、欧洲人（12 人）、阿什肯纳兹犹太人（5 人）、中东人（3 人）或其他种族（5 人），有乳腺癌病史（20 人）。患者对癌症 GS 结果的效用感知取决于是否引发临床行动。例如，当患者因低/中危乳腺癌基因被纳入高危乳腺癌监测计划时，他们认为结果非常“有用”，具有中高度效用。相比之下，对于没有临床行动的低/中危或主要意义不明的变体结果，患者认为这些结果“令人担忧”，导致对癌症症状的过度警惕等危害。总体而言，有支持性的亲属或提供者会增强对效用的感知。
患者对癌症 GS 结果的感知取决于它们是否引发临床管理。因此，那些接受没有临床行动的结果的患者变得过度警惕，产生危害。我们的研究结果呼吁需要制定实践干预措施来支持接受 GS 的癌症患者。
