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公众对基因组测序二次结果反馈的看法:几乎全关乎选择。

Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice.

作者信息

Ryan Kerry A, De Vries Raymond G, Uhlmann Wendy R, Roberts J Scott, Gornick Michele C

机构信息

Center for Bioethics and Social Sciences in Medicine, Department of Internal Medicine, University of Michigan, 2800 Plymouth Road, Building 14, G016, Ann Arbor, MI, 48109-2800, USA.

Department of Learning Health Sciences, University of Michigan Medical School, Ann Arbor, MI, USA.

出版信息

J Genet Couns. 2017 Dec;26(6):1197-1212. doi: 10.1007/s10897-017-0095-6. Epub 2017 Mar 29.

Abstract

The therapeutic use of genomic sequencing creates novel and unresolved questions about cost, clinical efficacy, access, and the disclosure of sequencing results. The disclosure of the secondary results of sequencing poses a particularly challenging ethical problem. Experts disagree about which results should be shared and public input - especially important for the creation of disclosure policies - is complicated by the complex nature of genetics. Recognizing the value of deliberative democratic methods for soliciting informed public opinion on matters like these, we recruited participants from a clinical research site for an all-day deliberative democracy (DD) session. Participants were introduced to the clinical and ethical issues associated with genomic sequencing, after which they discussed the tradeoffs and offered their opinions about policies for the return of secondary results. Participants (n = 66; mean age = 57 (SD = 15); 70% female; 76% white) were divided into 10 small groups (5 to 8 participants each) allowing interactive deliberation on policy options for the return of three categories of secondary results: 1) medically actionable results; 2) risks for adult-onset disorders identified in children; and 3) carrier status for autosomal recessive disorders. In our qualitative analysis of the session transcripts, we found that while participants favored choice and had a preference for making information available, they also acknowledged the risks (and benefits) of learning such information. Our research reveals the nuanced reasoning used by members of the public when weighing the pros and cons of receiving genomic information, enriching our understanding of the findings of surveys of attitudes regarding access to secondary results.

摘要

基因组测序的治疗性应用引发了关于成本、临床疗效、可及性以及测序结果披露等方面的新问题且尚无定论。测序次要结果的披露带来了一个特别具有挑战性的伦理问题。专家们对于哪些结果应该共享存在分歧,而公众参与——对于制定披露政策尤为重要——因遗传学的复杂性质而变得复杂。认识到协商民主方法在就此类问题征求公众明智意见方面的价值,我们从一个临床研究站点招募参与者参加为期一整天的协商民主(DD)会议。向参与者介绍了与基因组测序相关的临床和伦理问题,之后他们讨论了权衡取舍,并就次要结果反馈政策发表了意见。参与者(n = 66;平均年龄 = 57岁(标准差 = 15);70%为女性;76%为白人)被分成10个小组(每组5至8名参与者),以便就三类次要结果反馈的政策选项进行互动式讨论:1)具有医学可操作性的结果;2)在儿童中发现的成人发病性疾病风险;3)常染色体隐性疾病的携带者状态。在对会议记录的定性分析中,我们发现虽然参与者赞成选择并倾向于获取信息,但他们也认识到了解此类信息的风险(和益处)。我们的研究揭示了公众在权衡接受基因组信息的利弊时所使用的细致入微的推理过程,丰富了我们对关于获取次要结果态度调查结果的理解。

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本文引用的文献

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