Center for Medical Ethics & Health Policy, Baylor College of Medicine, Houston, Texas.
Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):589-600. doi: 10.1002/ajmg.b.32682. Epub 2018 Oct 25.
In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome-wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitative interviews with 39 psychiatric genetics researchers from different countries operating at the forefront of their field, we provide an insider's view of researchers' practices regarding RoR and the most contentious issues in psychiatry researchers' decision-making around RoR, including what are the strongest ethical, scientific, and practical arguments for and against offering RoR from this research. Notably, findings suggest that psychiatric genetics researchers (85%) overwhelmingly favor offering RoR of at least some findings, but only 22% of researchers are returning results. Researchers identified a number of scientific and practical concerns about RoR, and about how to return results in a responsible way to patients diagnosed with a severe psychiatric disorder. Furthermore, findings help highlight areas for further discussion and resolution of conflicts in the practice of RoR in psychiatric genetics research. As the pace of discovery in psychiatric genetics continues to surge, resolution of these uncertainties gains greater urgency to avoid ethical pitfalls and to maximize the positive impact of RoR.
在越来越多的人达成共识，即基因组学研究人员应该提供在研究过程中发现的具有临床有效性、医学相关性和可操作性的医学发现之际，精神遗传学研究人员面临着新的挑战。随着他们通过全基因组关联研究揭示精神障碍的遗传结构，并将全基因组和全外显子测序整合到他们的研究中，迫切需要检查这些研究人员对结果回报（RoR）的看法，以及从精神遗传学研究中提供 RoR 的独特挑战。基于对来自不同国家的 39 名处于该领域前沿的精神遗传学研究人员的定性访谈，我们提供了研究人员关于 RoR 的实践的内部视角，以及在 RoR 决策方面最具争议的问题，包括从这项研究提供 RoR 的最强有力的伦理、科学和实际论据是什么，以及反对提供 RoR 的论据是什么。值得注意的是，研究结果表明，精神遗传学研究人员（85%）压倒性地赞成提供至少一些发现的 RoR，但只有 22%的研究人员在回报结果。研究人员确定了一些关于 RoR 的科学和实际问题，以及如何以负责任的方式向被诊断患有严重精神障碍的患者返还结果。此外，研究结果有助于突出精神遗传学研究中 RoR 实践中需要进一步讨论和解决冲突的领域。随着精神遗传学发现的步伐继续加速，解决这些不确定性的紧迫性也在增加，以避免伦理陷阱并最大限度地提高 RoR 的积极影响。
