Jennifer Roggenbuck, Mackenzie Kaschalk, Rory Eustace, Leah Vicini, Yevgeniya Gokun, Matthew B Harms, Stephen J Kolb
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引用次数: 0
摘要
目的:答案 ALS 结果返回(RoAR)研究旨在为 "答案 ALS"(一项大型、前瞻性设计的自然史和生物库研究)的参与者提供一种机制,以接收选定的临床基因检测结果,并研究参与者对结果披露的体验。研究方法:参与者同意接收五个 ALS 基因(C9orf72、SOD1、FUS、TARDP、TBK1)和/或美国医学遗传学会指定的 59 个医学上可操作的基因的检测结果。患者报告的基因检测结果通过披露后调查进行测量。结果:在 645 名符合条件的 ALS 患者中,有 143 人(22%)参加并完成了 RoAR 的测试。在 22/143 名参与者(15.4%)中发现了致病变体,其中 ALS 基因 13/143 例(9.0%),ACMG 基因 9/143 例(6.3%)。参与者报告的结果效用测量结果表明,与已发表的患者报告的临床结果披露结果相比,研究结果披露同样成功,甚至更加成功。结论:本研究可作为 "披露研究 "的典范,与最初未被提供接收结果选项的参与者分享基因组研究结果,我们的研究结果可为未来大规模基因组项目的设计提供参考,以增强研究参与者获取其基因信息的能力。
The Answer ALS return of results study: Answering the duty to disclose.
Objective: The Return of Answer ALS Results (RoAR) Study was designed to provide a mechanism for participants in Answer ALS, a large, prospectively designed natural history and biorepository study to receive select clinical genetic testing results and study participants' experience with the results disclosure. Methods: Participants consented to receive results of five ALS genes (C9orf72, SOD1, FUS, TARDP, TBK1) and/or 59 medically actionable genes as designated by the American College of Medical Genetics. Patient-reported genetic testing outcomes were measured via a post-disclosure survey. Results: Of 645 eligible Answer ALS enrollees, 143 (22%) enrolled and completed participation in RoAR. Pathogenic variants were identified in 22/143 (15.4%) participants, including 13/143 (9.0%) in ALS genes and 9/143 (6.3%) in ACMG genes. Participant-reported measures of result utility indicated the research result disclosure was as or more successful than published patient-reported outcomes of result disclosure the clinical setting. Conclusions: This study serves as a model of a "disclosure study" to share results from genomic research with participants who were not initially offered the option to receive results, and our findings can inform the design of future, large scale genomic projects to empower research participants to access their genetic information.