Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
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DOI：
10.1038/ejhg.2015.58
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发表时间：
2016-01-01
影响因子：
5.2
通讯作者：
Parker, Michael
中科院分区：
文献类型：
--
作者：
Middleton, Anna;Morley, Katherine I.;Parker, Michael
研究环境中的全基因组测序有可能为研究参与者揭示与健康有关的个人或临床实用信息。向参与者返还可能与项目目标无关的研究成果的压力越来越大，特别是当这些成果可以用于预防疾病的时候。在解释序列数据时，可能会无意中发现这种次要的、未经请求的或‘偶然发现’(IF)，或者可能是故意的机会性筛选的结果。这项基于网络的横断面调查调查了来自75个国家和地区的6944名个人对从基因组研究中返回IF的态度。与会者包括四个相关的利益攸关群体：4961名公众成员、533名遗传保健专业人员、843名非遗传保健专业人员和607名基因组研究人员，他们是通过传统媒体、社交媒体和专业电子邮件列表服务应邀参加的。可治疗性和偶然结果的感知效用被认为是重要的，98%的利益相关者个人对了解可预防的危及生命的情况感兴趣。虽然人们普遍对接收基因组信息感兴趣，但利益相关者并不希望研究人员在研究环境中机会主义地筛查IF。在许多项目上，遗传健康专业人员比其他利益相关者有明显更保守的观点。这一发现表明，处理研究结果的人和参与研究的人的观点之间存在脱节。探索、评估并最终解决这一脱节应该成为研究人员和临床医生的优先事项。这项社会科学研究提供了迄今为止发表的最大的数据集，说明了人们对测序研究中有关IF返回的问题的态度。
Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for the study participant. There is increasing pressure to return research findings to participants that may not be related to the project aims, particularly when these could be used to prevent disease. Such secondary, unsolicited or 'incidental findings' ( IFs) may be discovered unintentionally when interpreting sequence data, or as the result of a deliberate opportunistic screen. This cross-sectional, web-based survey investigated attitudes of 6944 individuals from 75 countries towards returning IFs from genome research. Participants included four relevant stakeholder groups: 4961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals and 607 genomic researchers who were invited via traditional media, social media and professional e-mail list-serve. Treatability and perceived utility of incidental results were deemed important with 98% of stakeholders personally interested in learning about preventable life-threatening conditions. Although there was a generic interest in receiving genomic information, stakeholders did not expect researchers to opportunistically screen for IFs in a research setting. On many items, genetic health professionals had significantly more conservative views compared with other stakeholders. This finding demonstrates a disconnect between the views of those handling the findings of research and those participating in research. Exploring, evaluating and ultimately addressing this disconnect should form a priority for researchers and clinicians alike. This social sciences study offers the largest dataset, published to date, of attitudes towards issues surrounding the return of IFs from sequencing research.