Improved ethical guidance for the return of results from psychiatric genomics research.
Improved ethical guidance for the return of results from psychiatric genomics research.
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DOI：
10.1038/mp.2017.228
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发表时间：
2018-01
影响因子：
11
通讯作者：
Sullivan PF
中科院分区：
文献类型：
--
作者：
Lázaro-Muñoz G;Farrell MS;Crowley JJ;Filmyer DM;Shaughnessy RA;Josiassen RC;Sullivan PF
有一个正在形成的共识，即基因组研究人员应该至少向个体参与者提供临床有效的、医学上重要的和医学上可操作的基因组发现（例如，BRCA 1的致病性变异）。然而，这在精神病遗传学研究中并不常见。此外，精神病学研究人员经常得出不符合所有这些标准的结果，但可能有道德上令人信服的论据来提供选择性结果。在这里，我们回顾了在基因组学研究的结果辩论的回报，并建议，作为其他医疗条件的基因组研究，精神病基因组学研究人员应该提供的结果，满足上述最低标准。此外，如果资源允许，精神病学研究人员可以考虑提供返回预先指定的“临床价值”的发现，即使没有医学上的可诉性-例如，有助于证实精神病诊断的发现，以及表明重要健康风险的发现。同样，我们建议提供“可能有临床价值”的发现，特别是与参与者症状可能相关的不确定意义的变体。这个观点的目的是发起一个讨论，可以帮助确定管理精神病基因组学研究结果的回报的最佳方法。
There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important, and medically actionable genomic findings (e.g., pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results. Here, we review the return of results debate in genomics research and propose that, as for genomic studies of other medical conditions, psychiatric genomics researchers should offer findings that meet the minimum criteria stated above. Additionally, if resources allow, psychiatry researchers could consider offering to return pre-specified “clinically valuable” findings even if not medically actionable – for instance, findings that help corroborate a psychiatric diagnosis, and findings that indicate important health risks. Similarly, we propose offering “likely clinically valuable” findings, specifically, variants of uncertain significance potentially related to a participant’s symptoms. The goal of this Perspective is to initiate a discussion that can help identify optimal ways of managing the return of results from psychiatric genomics research.