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首页> 外文期刊>European journal of human genetics: EJHG >Research participants in NGS studies want to know about incidental findings
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Research participants in NGS studies want to know about incidental findings

机译:NGS研究的研究参与者希望了解偶然发现

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摘要

Following the implementation of high-throughput sequencing legal and ethical issues are discussed intensively. The management of incidental findings (IFs) in a research setting have been investigated but there is a lack of literature concerning research participant's perspective. The aim of this study was to investigate whether research participants want disclosure of IFs and what kind of IFs they want to know about. One hundred and twenty-seven research participants in a study of gastrointestinal polyps were informed about whole-exome sequencing and the risk of IFs. They were asked to decide whether they (A) wanted disclosure of IFs no matter whether the variants were associated with a non-treatable or non-preventable condition, (B) wanted disclosure of variants associated with treatable or preventable conditions or (C) wanted no disclosure at all. Participants who wanted disclosure of all the IFs (A) accounted for the majority (n=78), 45 of the participants only wanted disclosure of variants, which could lead to surveillance or treatment (B) and 4 participants did not want IFs to be disclosed at all (C). The study showed that almost all research participants wanted disclosure of at least some types of IFs.
机译:在实施高通量测序之后,将深入讨论法律和道德问题。已经研究了研究环境中的偶然发现(IF)的管理,但缺乏有关研究参与者观点的文献。这项研究的目的是调查研究参与者是否要披露IF,以及他们想知道哪种IF。 127位参加胃肠息肉研究的研究人员被告知全外显子组测序和IF的风险。他们被要求决定他们是否(A)希望披露IF,无论这些变体是否与不可治疗或不可预防的状况相关;(B)希望披露与可治疗或可预防的状况相关的变体;或(C)想要完全没有披露。希望公开所有IF的参与者占多数(n = 78),其中有45名参与者只想公开变异,这可能导致监视或治疗(B),有4名参与者不希望成为IF完全公开(C)。该研究表明,几乎所有研究参与者都希望披露至少某些类型的IF。

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