Department of Epidemiology, University of California, Irvine, CA, USA.
Department of Health Services, University of Washington, Seattle, WA, USA.
Transl Behav Med. 2018 Jan 29;8(1):119-129. doi: 10.1093/tbm/ibx056.
Observational genome-wide association studies require large sample sizes. Evaluating the interplay between genomic, environmental, and lifestyle factors can require even larger sample sizes. The All of Us Research Program will recruit 1 million participants to facilitate research on genomic, environmental, and lifestyle factors. Integrating participant preferences into the research process is a new paradigm and a necessary component of the All of Us Research Program. The purpose of the study is to summarize quantitative studies of participant preferences related to participation in observational genomic research studies, starting with consent through return of results. Integrating this information into the conduct of genomic studies may benefit participants, and improve participant satisfaction, recruitment, and retention. We conducted a systematic review of the literature regarding participant views related to reconsent and broad consent, use of de-identified data, contribution of data to a biorepository, risk of identification, return of individual genetic results, and motivation for participation in genomic studies. Twenty-three articles met our inclusion and exclusion criteria. Study results found that most participants support broad consent; however, significant differences related to reconsent preferences have been shown by gender and age. Most participants support the return of individual genomic results and do not feel it is necessary to maintain a link to their de-identified data. Reasons given for joining research studies varied by population source. These findings, in addition to the knowledge that participants are more accepting of broad informed consent methods when the rationale is explained, can assist in developing guidelines for future observational genomic research.
观察性全基因组关联研究需要大样本量。评估基因组、环境和生活方式因素之间的相互作用甚至需要更大的样本量。“全民研究计划”将招募 100 万名参与者，以促进对基因组、环境和生活方式因素的研究。将参与者的偏好纳入研究过程是一种新的范式，也是“全民研究计划”的必要组成部分。本研究的目的是总结与参与观察性基因组研究相关的参与者偏好的定量研究，从同意到结果返回。将这些信息纳入基因组研究的实施过程中可能使参与者受益，并提高参与者的满意度、招募率和保留率。我们对与再同意和广泛同意、使用去识别数据、将数据贡献给生物库、识别风险、返回个体遗传结果以及参与基因组研究的动机相关的参与者意见进行了系统的文献回顾。符合我们的纳入和排除标准的文章有 23 篇。研究结果发现，大多数参与者支持广泛同意；然而，性别和年龄的差异表明，他们对再同意的偏好存在显著差异。大多数参与者支持返回个体基因组结果，并不认为有必要将其与去识别数据保持联系。不同人群来源加入研究的原因各不相同。除了参与者在解释理由后更能接受广泛的知情同意方法的这一认识之外，这些发现还可以帮助制定未来观察性基因组研究的指南。
