Department of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Eur J Hum Genet. 2011 Jul;19(7):740-7. doi: 10.1038/ejhg.2011.34. Epub 2011 Mar 16.
Ethicists contend that researchers are obliged to report genetic research findings to individual study participants when they are clinically significant, that is, when they are clinically useful or personally meaningful to participants. Yet whether such standards are well understood and can be consistently applied remains unknown. We conducted an international, cross-sectional survey of cystic fibrosis (CF) and autism genetics researchers using a quasi-experimental design to explore factors influencing researchers' judgments. Eighty percent of researchers agreed, in principle, that clinically significant findings should be reported to individual participants. Yet judgments about when a specific finding was considered clinically significant or warranted reporting varied by scientific factors (replication, robustness, intentionality, and disease context), capacity of the research team to explain the results, and type of research ethics guidance. Further, judgments were influenced by the researchers' disease community (autism or CF), their primary role (clinical, molecular, statistical) and their beliefs regarding a general reporting obligation. In sum, judgments about the clinical significance of genetic research results, and about whether they should be reported, are influenced by scientific parameters as well as contextual factors related to the specific research project and the individual researcher. These findings call into question the assumption that the conditions under which an obligation to disclose arises are uniformly understood and actionable. Adjudicating the clinical readiness of provisional data may be a responsibility better suited to evaluative experts at arms' length of the provisional data in question, rather than a responsibility imposed upon researchers themselves.
伦理学家认为,当研究结果具有临床意义(即对参与者具有临床有用性或个人意义)时,研究人员有义务向个体研究参与者报告遗传研究结果。然而,这些标准是否被很好地理解并能够得到一致应用仍不得而知。我们采用准实验设计,对囊性纤维化(CF)和自闭症遗传学研究人员进行了一项国际横断面调查,以探讨影响研究人员判断的因素。80%的研究人员原则上同意,应向个体参与者报告具有临床意义的发现。然而,关于何时认为特定发现具有临床意义或需要报告的判断因科学因素(复制、稳健性、意图和疾病背景)、研究团队解释结果的能力以及研究伦理指导的类型而有所不同。此外,判断还受到研究人员所在疾病领域(自闭症或 CF)、主要角色(临床、分子、统计)以及他们对一般报告义务的信念的影响。总之,对遗传研究结果的临床意义的判断,以及是否应该报告这些结果,受到科学参数以及与特定研究项目和个别研究人员相关的背景因素的影响。这些发现质疑了这样一种假设,即披露义务产生的条件是统一理解和可操作的。判断临时数据的临床准备情况可能是一个更好的责任,由与临时数据有一定距离的评估专家承担,而不是强加给研究人员自己的责任。