The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study
The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study
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DOI：
10.1038/s41431-021-00834-9
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发表时间：
2021-02-26
影响因子：
5.2
通讯作者：
Oerlemans, Anke J. M.
中科院分区：
文献类型：
--
作者：
van der Schoot, Vyne;Viellevoije, Simone J.;Oerlemans, Anke J. M.
临床外显子组测序中的非征集性发现（UF）是与进行DNA检测的初始临床问题无关的变体，但可能与患者和/或其家属具有医学相关性。关于UF对患者生活的影响的知识有限。为了了解患者对UF影响的看法，我们对患者和/或其亲属进行了20次半结构化面对面访谈，这些患者和/或其亲属的UF易患肿瘤疾病（n = 10）或易患心脏病（n = 10）已被披露。我们已经确定了一个心理，身体和财务方面的影响，UF披露外显子组测序的感知。根据我们的参与者，可接受性，理解，患者的测试前健康和社会背景是影响因素。虽然大多数人最初表示有相当大的心理影响，但除了一名参与者外，所有人都会选择再次接受基因测试，知道他们现在知道的事情。这些新的研究结果提供了深入了解患者的角度对UF披露的影响。我们的研究强调了将患者的看法在用友披露政策的价值。
Unsolicited findings (UFs) in clinical exome sequencing are variants that are unrelated to the initial clinical question the DNA test was performed for, but that may nonetheless be of medical relevance to patients and/or their families. There is limited knowledge about the impact of UFs on patients' lives. In order to characterise patient perceptions of the impact of an UF, we conducted 20 semi-structured face-to-face interviews with patients and/or their relatives to whom an UF predisposing to oncological disease (n = 10) or predisposing to a cardiac condition (n = 10) had been disclosed. We have identified a psychological, physical and financial aspect of the perceived impact of UF disclosure in exome sequencing. Actionability, understanding, patients' pre-test health and social context were influencing factors, according to our participants. Although most expressed considerable psychological impact initially, all but one participant would choose to undergo genetic testing again, knowing what they know now. These novel findings provide insight in patients' perspectives on the impact of UF disclosure. Our study highlights the value of incorporating patients' perceptions in UF disclosure policy.