Hastings Cent Rep. 2014 Jul-Aug;44(4):22-32. doi: 10.1002/hast.328. Epub 2014 Jun 11.
Genomic research-including whole genome sequencing and whole exome sequencing-has a growing presence in contemporary biomedical investigation. The capacity of sequencing techniques to generate results that go beyond the primary aims of the research-historically referred to as "incidental findings"-has generated considerable discussion as to how this information should be handled-that is, whether incidental results should be returned, and if so, which ones.Federal regulations governing most human subjects research in the United States require the disclosure of "the procedures to be followed" in the research as part of the informed consent process. It seems reasonable to assume-and indeed, many commentators have concluded-that genomic investigators will be expected to inform participants about, among other procedures, the prospect that incidental findings will become available and the mechanisms for dealing with them. Investigators, most of whom will not have dealt with these issues before, will face considerable challenges in framing meaningful disclosures for research participants.To help in this task, we undertook to identify the elements that should be included in the informed consent process related to incidental findings. We did this by surveying a large number of genomic researchers (n = 241) and by conducting in-depth interviews with a smaller number of researchers (n = 28) and genomic research participants (n = 20). Based on these findings, it seems clear to us that routine approaches to informed consent are not likely to be effective in genomic research in which the prospect of incidental findings exists. Ensuring that participants' decisions are informed and meaningful will require innovative approaches to dealing with the consent issue. We have identified four prototypical models of a consent process for return of incidental findings.
基因组研究——包括全基因组测序和全外显子组测序——在当代生物医学研究中越来越普遍。测序技术能够产生超出研究主要目的的结果,这些结果被称为“偶然发现”,这引发了大量关于如何处理这些信息的讨论,即偶然结果是否应该被报告,如果应该报告,应该报告哪些结果。美国规范大多数人类受试者研究的联邦法规要求在知情同意过程中披露研究中“要遵循的程序”。人们有理由认为——事实上,许多评论员已经得出结论——基因组研究人员将被期望告知参与者,除其他程序外,偶然发现可能会出现,以及处理这些发现的机制。大多数研究人员以前都没有处理过这些问题,他们将面临相当大的挑战,需要为研究参与者制定有意义的披露。为了帮助完成这项任务,我们着手确定与偶然发现相关的知情同意过程中应包含的要素。我们通过调查大量基因组研究人员(n=241)并对少数研究人员(n=28)和基因组研究参与者(n=20)进行深入访谈来实现这一目标。基于这些发现,我们清楚地认识到,在存在偶然发现可能性的基因组研究中,常规的知情同意方法不太可能有效。确保参与者的决策是明智和有意义的,需要创新的方法来处理同意问题。我们已经确定了四种偶然发现回报知情同意过程的典型模型。