观察性全基因组关联研究需要大样本量。评估基因组之间的相互作用,环境,和生活方式因素可能需要更大的样本量。全美国研究计划将招募100万参与者,以促进基因组研究,环境,和生活方式因素。将参与者偏好整合到研究过程中是一个新的范式,也是我们所有人研究计划的必要组成部分。该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,从同意开始,通过返回结果。将这些信息整合到基因组研究中可能会使参与者受益,提高参与者满意度,招募,和保留。我们对有关参与者与重新同意和广泛同意有关的观点的文献进行了系统回顾,使用去识别的数据,数据对生物存储库的贡献,识别风险,个体遗传结果的回归,以及参与基因组研究的动机。23篇文章符合我们的纳入和排除标准。研究结果发现,大多数参与者支持广泛同意;然而,性别和年龄显示了与再次同意偏好相关的显著差异.大多数参与者支持返回个体基因组结果,并且认为没有必要保持与其去识别数据的链接。加入研究的原因因人口来源而异。这些发现,除了知道参与者在解释理由时更接受广泛的知情同意方法之外,可以帮助制定未来观察基因组研究的指导方针。
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.