研究动态
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"我不需要任何更多的未知因素悬挂在我头上":癌症患者对基因测序中的不确定意义变异和低/中风险结果的看法。

"I don't need any more unknowns hanging over my head": Cancer patients' views on variants of uncertain significance and low/moderate risk results from genomic sequencing.

发表日期:2023 Aug 10
作者: Salma Shickh, Chloe Mighton, Marc Clausen, Rita Kodida, Ella Adi-Wauran, Daena Hirjikaka, Suvetha Krishnapillai, Emma Reble, Jordan Sam, Nancy N Baxter, Andreas Laupacis, Yvonne Bombard,
来源: GENES & DEVELOPMENT

摘要:

本研究旨在探索癌症基因组测序(GS)的所有类型结果的患者报告效用。我们采用定性研究方法,通过半结构化访谈与参与试验的患者进行交流。采用主题分析和常规比较方法进行数据分析。两名编码员编码转录资料,并有第三个编码员解决冲突。共有25名患者参与,其中女性(22),年龄大于50岁(18),欧洲人(12),Ashkenazi犹太人(5),中东人(3)或其他种族(5),患有乳腺癌(20)。患者对癌症GS结果的效用看重于是否触发了临床行动。例如,当患者因低/中度风险乳腺癌基因而被纳入高风险乳腺癌监测计划时,他们认为结果非常“有用”且具有中度至高度的效用。相反,未采取临床行动的低/中度风险或原发VUS结果被患者视为“令人担忧”,导致对癌症症状的过度警觉等危害。总体而言,有支持性亲属或医生的存在提高了效用认知。患者对癌症GS结果的认知取决于是否触发了临床干预措施。因此,未采取临床行动的结果使患者过度警觉,并导致危害。我们的研究结果呼吁开发实践干预措施以支持进行GS的癌症患者。版权所有© 2023,由Elsevier Inc.出版。
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 (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 VUS 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 cancer patients undergoing GS.Copyright © 2023. Published by Elsevier Inc.