Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
复制标题
DOI：
10.1038/gim.2013.133
复制
发表时间：
2013-11-01
影响因子：
8.8
通讯作者：
Jarvik, Gail P.
中科院分区：
文献类型：
--
作者：
Berg, Jonathan S.;Amendola, Laura M.;Jarvik, Gail P.
随着基因组和外部测试在研究和临床领域都扩大，确定是否，如何以及哪些偶然发现返回订购临床医生和患者变得越来越重要。尽管应将应归还给同意患者或研究参与者的意见有所不同，但大多数专家都同意，应考虑医学上可行的结果的回报。鉴于基因组规模尺度的诊断测试纳入临床护理的速度，因此没有足够的证据来充分向基于证据的临床实践指南提供有关基因组规模测序结果回报的临床实践指南。我们介绍了由国家人类基因组研究所资助的临床测序探索性研究网络成员的偶然发现方法的概述，以通过临床基因组学界对这些方法进行讨论，我们还报告了“医学可行的”特定列表。一部分研究人员生成的基因是为了探索在各种情况下包括或排除哪些发现类型的基因。讨论有关报告新变体的一般原则，具有挑战性的病例（在临床测序探索性研究网站上很难达成共识的基因），参与者对偶然发现返回的偏好的招标以及回报的时机和上下文提供了偶然发现。
As genomic and exomic testing expands in both the research and clinical arenas, determining whether, how, and which incidental findings to return to the ordering clinician and patient becomes increasingly important. Although opinion is varied on what should be returned to consenting patients or research participants, most experts agree that return of medically actionable results should be considered. There is insufficient evidence to fully inform evidencebased clinical practice guidelines regarding return of results from genome-scale sequencing, and thus generation of such evidence is imperative, given the rapidity with which genome-scale diagnostic tests are being incorporated into clinical care. We present an overview of the approaches to incidental findings by members of the Clinical Sequencing Exploratory Research network, funded by the National Human Genome Research Institute, to generate discussion of these approaches by the clinical genomics community We also report specific lists of "medically actionable" genes that have been generated by a subset of investigators in order to explore what types of findings have been included or excluded in various contexts. A discussion of the general principles regarding reporting of novel variants, challenging cases (genes for which consensus was difficult to achieve across Clinical Sequencing Exploratory Research network sites), solicitation of preferences from participants regarding return of incidental findings, and the timing and context of return of incidental findings are provided.