Abstract：
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.
摘要：
目标：回答ALS结果返回（RoAR）研究旨在为回答ALS的参与者提供一种机制，一个大的,前瞻性设计的自然史和生物保存研究，以接收选定的临床基因检测结果和研究参与者对结果披露的经验。方法：参与者同意接受五个ALS基因的结果(C9orf72，SOD1，FUS，TARDP,TBK1）和/或美国医学遗传学学会指定的59个医学上可操作的基因。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名合格的ALS答案参与者中，143人（22%）注册并完成了RoAR的参与。在22/143（15.4%）的参与者中发现了致病变异，包括ALS基因中的13/143（9.0％）和ACMG基因中的9/143（6.3％）。参与者报告的结果效用度量表明，研究结果披露与已发布的患者报告的结果披露临床环境一样或更成功。结论：本研究作为“公开研究”的模型，与最初未提供接受结果的选择的参与者分享基因组研究的结果。我们的发现可以为未来的设计提供信息，大规模的基因组项目，使研究参与者能够访问他们的遗传信息。
