Fabsitz Richard R, McGuire Amy, Sharp Richard R, Puggal Mona, Beskow Laura M, Biesecker Leslie G, Bookman Ebony, Burke Wylie, Burchard Esteban Gonzalez, Church George, Clayton Ellen Wright, Eckfeldt John H, Fernandez Conrad V, Fisher Rebecca, Fullerton Stephanie M, Gabriel Stacey, Gachupin Francine, James Cynthia, Jarvik Gail P, Kittles Rick, Leib Jennifer R, O'Donnell Christopher, O'Rourke P Pearl, Rodriguez Laura Lyman, Schully Sheri D, Shuldiner Alan R, Sze Rebecca K F, Thakuria Joseph V, Wolf Susan M, Burke Gregory L
Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, Epidemiology Branch, 6701 Rockledge Drive/ MSC 7935, Bethesda, MD20892, USA.
Circ Cardiovasc Genet. 2010 Dec;3(6):574-80. doi: 10.1161/CIRCGENETICS.110.958827.
In January 2009, the National Heart, Lung, and Blood Institute convened a 28-member multidisciplinary Working Group to update the recommendations of a 2004 National Heart, Lung, and Blood Institute Working Group focused on Guidelines to the Return of Genetic Research Results. Changes in the genetic and societal landscape over the intervening 5 years raise multiple questions and challenges. The group noted the complex issues arising from the fact that technological and bioinformatic progress has made it possible to obtain considerable information on individuals that would not have been possible a decade ago. Although unable to reach consensus on a number of issues, the working group produced 5 recommendations. The working group offers 2 recommendations addressing the criteria necessary to determine when genetic results should and may be returned to study participants, respectively. In addition, it suggests that a time limit be established to limit the duration of obligation of investigators to return genetic research results. The group recommends the creation of a central body, or bodies, to provide guidance on when genetic research results are associated with sufficient risk and have established clinical utility to justify their return to study participants. The final recommendation urges investigators to engage the broader community when dealing with identifiable communities to advise them on the return of aggregate and individual research results. Creation of an entity charged to provide guidance to institutional review boards, investigators, research institutions, and research sponsors would provide rigorous review of available data, promote standardization of study policies regarding return of genetic research results, and enable investigators and study participants to clarify and share expectations for the handling of this increasingly valuable information with appropriate respect for the rights and needs of participants.
2009年1月，美国国立心肺血液研究所召集了一个由28名成员组成的多学科工作组，以更新2004年美国国立心肺血液研究所工作组关于基因研究结果反馈指南的建议。在这期间的5年里，基因和社会环境发生了变化，引发了诸多问题和挑战。该小组指出，技术和生物信息学的进步使得获取十年前不可能获得的大量个人信息成为可能，由此产生了复杂的问题。尽管在一些问题上未能达成共识，但该工作组提出了5项建议。工作组分别就确定何时应该以及可以将基因结果反馈给研究参与者所需的标准提出了2项建议。此外，它还建议设定一个时间限制，以限制研究人员反馈基因研究结果的义务期限。该小组建议设立一个或多个中央机构，就基因研究结果何时与足够的风险相关联以及已确立临床效用从而证明应将其反馈给研究参与者提供指导。最后一项建议敦促研究人员在与可识别的社区打交道时，让更广泛的社区参与进来，就汇总和个人研究结果的反馈向他们提供建议。设立一个负责向机构审查委员会、研究人员、研究机构和研究赞助商提供指导的实体，将对现有数据进行严格审查，促进基因研究结果反馈研究政策的标准化，并使研究人员和研究参与者能够在适当尊重参与者权利和需求的情况下，明确并分享对处理这一日益有价值信息的期望。
