Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Genet Med. 2021 Feb;23(2):298-305. doi: 10.1038/s41436-020-00986-x. Epub 2020 Oct 9.
Patient-participants in psychiatric genetics research may be at an increased risk for negative psychosocial impacts related to the return of genetic research results. Examining psychiatric genetics researchers' return of results practices and perspectives can aid the development of empirically informed and ethically sound guidelines.
A survey of 407 psychiatric genetics researchers from 39 countries was conducted to examine current return of results practices, attitudes, and knowledge.
Most respondents (61%) reported that their studies generated medically relevant genomic findings. Although 24% have returned results to individual participants, 52% of those involved in decisions about return of results plan to return or continue to return results. Respondents supported offering "medically actionable" results related to psychiatric disorders (82%), and the majority agreed non-medically actionable risks for Huntington (71%) and Alzheimer disease (64%) should be offered. About half (49%) of respondents supported offering reliable polygenic risk scores for psychiatric conditions. Despite plans to return, only 14% of researchers agreed there are adequate guidelines for returning results, and 59% rated their knowledge about how to manage the process for returning results as poor.
Psychiatric genetics researchers support returning a wide range of results to patient-participants, but they lack adequate knowledge and guidelines.
参与精神遗传学研究的患者参与者可能面临与遗传研究结果回报相关的负面心理社会影响的风险增加。研究精神遗传学研究人员的结果回报实践和观点可以帮助制定经验丰富和符合伦理的准则。
对来自 39 个国家的 407 名精神遗传学研究人员进行了一项调查，以检查当前的结果回报实践、态度和知识。
大多数受访者（61%）报告说他们的研究产生了与医学相关的基因组发现。尽管有 24%的人向个别参与者回报了结果，但有 52%的参与决策的人计划回报或继续回报结果。受访者支持提供与精神障碍相关的“可采取医学措施”的结果（82%），并且大多数人同意亨廷顿病（71%）和阿尔茨海默病（64%）的非可采取医学措施的风险应该提供。约一半（49%）的受访者支持提供可靠的多基因风险评分用于精神疾病。尽管计划回报，但只有 14%的研究人员认为有足够的指南来回报结果，而 59%的人表示他们对如何管理回报结果的过程的了解很差。
精神遗传学研究人员支持向患者参与者回报广泛的结果，但他们缺乏足够的知识和指导方针。
