Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, KU Leuven, Leuven, Belgium.
Leuven Institute for Human Genomics and Society, Leuven, Belgium.
Clin Genet. 2018 Oct;94(3-4):321-329. doi: 10.1111/cge.13391. Epub 2018 Jul 8.
Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Fifty-four forms representing 38 laboratories/clinics were analyzed. A quarter of the forms did not mention UF or SF. Forms used a variety of terms to discuss UF and SF, sometimes using these interchangeably or incorrectly. Reporting policies for UF varied: 5 forms stated that UF will not be returned, 15 indicated UF may be returned, and 28 did not specify their policy. One-third indicated their laboratory returns SF. Addressing inconsistent terminology and providing sufficient information about UF/SF in consent forms will increase patient understanding and help ensure adequate informed consent.
全外显子组和全基因组测序越来越多地在临床环境中提供给患者。然而，对于是否以及在何种程度上应该向患者返还未请求的发现 (UF) 和/或次要发现 (SF)，这个问题仍然悬而未决，而且对于诊断同意书如何解决这个问题知之甚少。我们系统地在线识别了用于诊断基因组测序的同意书，并使用归纳内容分析来确定它们是否以及如何讨论 UF 和 SF 的报告，以及患者是否有权选择返回这些结果。分析了 54 份代表 38 个实验室/诊所的表格。四分之一的表格没有提到 UF 或 SF。表格使用了各种术语来讨论 UF 和 SF，有时会互换或不正确地使用这些术语。UF 的报告政策各不相同：5 份表格表示 UF 将不会被返还，15 份表格表示 UF 可能会被返还，28 份表格没有具体说明其政策。三分之一的表格表示他们的实验室会返还 SF。在同意书中使用一致的术语并提供关于 UF/SF 的足够信息，将提高患者的理解，并有助于确保充分的知情同意。
