Souzeau Emmanuelle, Burdon Kathryn P, Mackey David A, Hewitt Alex W, Savarirayan Ravi, Otlowski Margaret, Craig Jamie E
Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, Australia.
Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, Australia ; Menzies Institute of Medical Research, University of Tasmania, Hobart, Australia.
Transl Vis Sci Technol. 2016 Feb 9;5(1):3. doi: 10.1167/tvst.5.1.3. eCollection 2016 Feb.
Whole genome and whole exome sequencing technologies are being increasingly used in research. However, they have the potential to identify incidental findings (IF), findings not related to the indication of the test, raising questions regarding researchers' responsibilities toward the return of this information to participants. In this study we discuss the ethical considerations related to the return of IF to research participants, emphasizing that the type of the study matters and describing the current practice standards. There are currently no legal obligations for researchers to return IF to participants, but some viewpoints consider that researchers might have an ethical one to return IF of clinical validity and clinical utility and that are actionable. The reality is that most IF are complex to interpret, especially since they were not the indication of the test. The clinical utility often depends on the participants' preferences, which can be challenging to conciliate and relies on participants' understanding. In summary, in the context of a lack of clear guidance, researchers need to have a clear plan for the disclosure or nondisclosure of IF from genomic research, balancing their research goals and resources with the participants' rights and their duty not to harm.
全基因组和全外显子组测序技术在研究中的应用越来越广泛。然而，这些技术有可能识别出偶然发现（IF），即与检测指征无关的发现，这引发了关于研究人员向参与者反馈此类信息的责任问题。在本研究中，我们讨论了与向研究参与者反馈偶然发现相关的伦理考量，强调研究类型的重要性，并描述了当前的实践标准。目前，研究人员没有向参与者反馈偶然发现的法律义务，但一些观点认为，研究人员可能有道义上的责任反馈具有临床有效性和临床实用性且可采取行动的偶然发现。实际情况是，大多数偶然发现难以解释，尤其是因为它们并非检测的指征。临床实用性通常取决于参与者的偏好，这可能难以协调，且依赖于参与者的理解。总之，在缺乏明确指导的情况下，研究人员需要制定一个关于是否披露基因组研究中偶然发现的明确计划，在研究目标和资源与参与者权利以及不造成伤害的责任之间取得平衡。
