Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.
Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project.
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DOI：
10.1038/ejhg.2015.118
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发表时间：
2016-01
期刊：
影响因子：
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通讯作者：
Schadt EE
中科院分区：
文献类型：
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作者：
Sanderson SC;Linderman MD;Suckiel SA;Diaz GA;Zinberg RE;Ferryman K;Wasserstein M;Kasarskis A;Schadt EE
全外显子组/基因组测序（WES/WGS）越来越多地提供给表面健康的个体。了解研究参与者寻求个人WGS的动机和关注点，以及他们对结果返回和数据共享的偏好，将有助于优化WES/WGS方案。在HealthSeq项目中，对接受个人WGS结果的个体进行纵向队列研究，研究参与者（n=35）进行了包括定性和定量成分的基线访谈。在知情同意期间记录数据共享偏好。在定性访谈部分，出现的主要动机是获得个人疾病风险信息，满足好奇心，有助于研究，自我探索和对祖先的兴趣，主要关注的是结果的潜在心理影响。在数量方面，57%的人支持对隐私的担忧。大多数人希望收到所有个人WGS结果（94%）和他们的原始数据（89%）；三分之一（37%）的人同意将他们的数据共享给基因型和表型数据库（dbGaP）。HealthSeq项目中个人WGS的早期采用者表达了各种与健康和非健康相关的动机。几乎所有人都希望获得所有可用的研究结果，同时也表达了对其研究结果的心理影响和隐私的担忧。
Whole exome/genome sequencing (WES/WGS) is increasingly offered to ostensibly healthy individuals. Understanding the motivations and concerns of research participants seeking out personal WGS and their preferences regarding return-of-results and data sharing will help optimize protocols for WES/WGS. Baseline interviews including both qualitative and quantitative components were conducted with research participants (n=35) in the HealthSeq project, a longitudinal cohort study of individuals receiving personal WGS results. Data sharing preferences were recorded during informed consent. In the qualitative interview component, the dominant motivations that emerged were obtaining personal disease risk information, satisfying curiosity, contributing to research, self-exploration and interest in ancestry, and the dominant concern was the potential psychological impact of the results. In the quantitative component, 57% endorsed concerns about privacy. Most wanted to receive all personal WGS results (94%) and their raw data (89%); a third (37%) consented to having their data shared to the Database of Genotypes and Phenotypes (dbGaP). Early adopters of personal WGS in the HealthSeq project express a variety of health- and non-health-related motivations. Almost all want all available findings, while also expressing concerns about the psychological impact and privacy of their results.