Renegar Gaile, Webster Christopher J, Stuerzebecher Steffen, Harty Lea, Ide Susan E, Balkite Beth, Rogalski-Salter Taryn A, Cohen Nadine, Spear Brian B, Barnes Diane M, Brazell Celia
Genetics Research, GlaxoSmithKline, 5 Moore Drive, RTP NC 27709, USA.
Bioethics. 2006 Feb;20(1):24-36. doi: 10.1111/j.1467-8519.2006.00473.x.
This paper is intended to stimulate debate amongst stakeholders in the international research community on the topic of returning individual genetic research results to study participants. Pharmacogenetics and disease genetics studies are becoming increasingly prevalent, leading to a growing body of information on genetic associations for drug responsiveness and disease susceptibility with the potential to improve health care. Much of these data are presently characterized as exploratory (non-validated or hypothesis-generating). There is, however, a trend for research participants to be permitted access to their personal data if they so choose. Researchers, sponsors, patient advocacy groups, ethics committees and regulatory authorities are consequently confronting the issue of whether, and how, study participants might receive their individual results. Noted international ethico-legal guidelines and public policy positions in Europe and the United States are reviewed for background. The authors offer 'Points-to-Consider' regarding returning results in the context of drug development trials based on their knowledge and experience. Theses considerations include: the clinical relevance of data, laboratory qualifications, informed consent procedures, confidentiality of medical information and the competency of persons providing results to participants. The discussion is framed as a benefit-to-risk assessment to balance the potential positive versus negative consequences to participants, while maintaining the integrity and feasibility of conducting genetic research studies.
本文旨在激发国际研究界利益相关者围绕向研究参与者反馈个人基因研究结果这一话题展开辩论。药物遗传学和疾病遗传学研究正日益普遍，从而产生了越来越多关于药物反应性和疾病易感性的基因关联信息，这些信息有可能改善医疗保健。目前，这些数据大多被归类为探索性的（未经验证或用于生成假设）。然而，有一种趋势是，如果研究参与者愿意，他们可以获取自己的个人数据。因此，研究人员、赞助商、患者权益倡导组织、伦理委员会和监管机构都面临着研究参与者是否以及如何获得其个人研究结果的问题。本文回顾了欧洲和美国著名的国际伦理法律准则及公共政策立场作为背景。作者根据自身知识和经验，就药物开发试验背景下的结果反馈提供了“需考虑要点”。这些要点包括：数据的临床相关性、实验室资质、知情同意程序、医疗信息的保密性以及向参与者提供结果人员的能力。讨论围绕利弊评估展开，以平衡对参与者潜在的积极和消极后果，同时保持进行基因研究的完整性和可行性。
