Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
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DOI：
10.1038/gim.2013.153
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发表时间：
2014-05
影响因子：
8.8
通讯作者：
Gonzalez, Kelly D. Farwell
中科院分区：
文献类型：
--
作者：
Shahmirzadi, Layla;Chao, Elizabeth C.;Palmaer, Erika;Parra, Melissa C.;Tang, Sha;Gonzalez, Kelly D. Farwell
关键词：
针对临床适应症对单个个体进行外显子组测序可能导致鉴定出与检测适应症无关的偶然有害变体（次要发现）。鉴于临床外显子组测试的最近可用性，关于临床诊断环境中次要发现的披露偏好和影响的知识有限。在这篇文章中，我们提供了初步数据的基础上的第一个200家庭提到Ambry遗传学诊断外显子组测序的二次发现结果披露的偏好。在诊断性外显子组测序同意书中，次要结果被分为四组：隐性疾病的携带者状态、迟发性疾病的易感性、癌症风险增加的易感性和早发性疾病。在这项研究中，我们进行了一项回顾性分析，患者的反应，对次要发现披露的偏好。大多数患者（187/200; 93.5%）选择接收一个或多个可用类别的次要结果。成年先证者比儿童更可能选择对次要数据设盲（分别为16和4%）。在对设盲的回答中，偏好均匀地分散在各个类别中。这些数据代表了提供临床外显子组测序的大型参考实验室的前所未有的结果。我们报告，第一次，患者和家庭的偏好，为接收基于临床基因组测序的二次调查结果。绝大多数进行外显子组测序的家庭选择披露次要发现。这些数据可能对制定接受临床基因组测序的重度和/或危及生命的疾病患者的次要结果报告指南产生影响。
Exome sequencing of a single individual for a clinical indication may result in the identification of incidental deleterious variants unrelated to the indication for testing (secondary findings). Given the recent availability of clinical exome testing, there is a limited knowledge regarding the disclosure preferences and impact of secondary findings in a clinical diagnostic setting. In this article, we provide preliminary data regarding the preferences for secondary findings results disclosure based on the first 200 families referred to Ambry Genetics for diagnostic exome sequencing. Secondary findings were categorized into four groups in the diagnostic exome sequencing consent: carrier status of recessive disorders, predisposition to later-onset disease, predisposition to increased cancer risk, and early-onset disease. In this study, we performed a retrospective analysis of patient responses regarding the preferences for secondary findings disclosure. The majority of patients (187/200; 93.5%) chose to receive secondary results for one or more available categories. Adult probands were more likely than children to opt for blinding of secondary data (16 vs. 4%, respectively). Among responses for blinding, preferences were evenly scattered among categories. These data represent the unprecedented results of a large reference laboratory providing clinical exome sequencing. We report, for the first time, the preferences of patients and families for the receipt of secondary findings based on clinical genome sequencing. Overwhelmingly, families undergoing exome sequencing opt for the disclosure of secondary findings. The data may have implications regarding the development of guidelines for secondary findings reporting among patients with severe and/or life-threatening disease undergoing clinical genomic sequencing.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
8.8
作者：
Clayton, Ellen Wright;Haga, Susanne;Burke, Wylie
通讯作者：
Burke, Wylie
影响因子：
8.8
作者：
Duncan, RE;Savulescu, J;Delatycki, MB
通讯作者：
Delatycki, MB
影响因子：
4.5
作者：
Chahrour MH;Yu TW;Lim ET;Ataman B;Coulter ME;Hill RS;Stevens CR;Schubert CR;ARRA Autism Sequencing Collaboration;Greenberg ME;Gabriel SB;Walsh CA
通讯作者：
Walsh CA
DOI：
10.1002/ajmg.c.30158
发表时间：
2008-02-15
影响因子：
3.1
作者：
Duncan, Rony E.;Gillam, Lynn;Delatycki, Martin B.
通讯作者：
Delatycki, Martin B.