Incidental Findings from Clinical Genome-Wide Sequencing: A Review
Incidental Findings from Clinical Genome-Wide Sequencing: A Review
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DOI：
10.1007/s10897-013-9604-4
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发表时间：
2014-08-01
影响因子：
1.9
通讯作者：
Friedman, J. M.
中科院分区：
文献类型：
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作者：
Lohn, Z.;Adam, S.;Friedman, J. M.
全基因组测序技术的临床应用还存在一些尚未解决的挑战。讨论最多的问题之一是偶然发现（IF），其定义为与测试适应症无关的基因测试结果。围绕IF的讨论始于研究背景下，我们用它来框架临床背景下对IF的考虑。越来越多的人认为，应该向患者提供分析有效和医学上可操作的IF，但临床医生是否以及在多大程度上应该披露其他类型的IF仍有争议。虽然其他人已经系统地回顾了有关遗传IF的文献，以前的评论集中在伦理和研究相关的问题，并没有考虑具体的遗传咨询专业的影响。这篇综述讨论了与IF相关的实际考虑、伦理问题和遗传咨询问题，特别关注临床全基因组测序。到目前为止，大部分关于IF的临床文献包括评论、综述和病例报告。有必要进行更多的实证研究，为机构协议和循证临床实践标准提供基础。
There are several unresolved challenges associated with the clinical application of genome-wide sequencing technologies. One of the most discussed issues is incidental findings (IF), which are defined as discoveries made as a result of genetic testing that are unrelated to the indication for the test. The discussion surrounding IF began in the context of research, which we have used to frame consideration of IF in the clinical context. There is growing consensus that analytically valid and medically actionable IF should be offered to patients, but whether and to what extent clinicians should disclose other kinds of IF is debated. While others have systematically reviewed the literature concerning genetic IF, previous reviews focus on ethical and research-related issues and do not consider the implications for the genetic counseling profession specifically. This review discusses the practical considerations, ethical concerns and genetic counseling issues related to IF, with a particular focus on clinical genome-wide sequencing. To date, the bulk of the literature with respect to IF in the clinical context consists of commentaries, reviews and case reports. There is a need for more empirical studies to provide a foundation for institutional protocols and evidence-based clinical practice standards.