Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, Seattle, Washington.
Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):75-80. doi: 10.1002/ajmg.c.31600. Epub 2018 Mar 7.
The lack of diversity of populations included in genomics databases is an important inhibitor of genomic discovery from bench to bedside. One way to increase the diversity of participants is to ensure that informed consent processes are designed for cultural and linguistic concordance for non-majority populations. This article describes two case studies of genomics research studies that are using novel approaches to informed consent to increase recruitment and retention of participants from traditionally underrepresented populations: The Cancer Health Assessments Reaching Many (CHARM) study, part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, and the All of Us Research Program, part of the Precision Medicine Initiative. We conclude by proposing a community of practice among researchers seeking to improve informed consent to increase diversity in genomics research.
基因组学数据库中纳入的人群缺乏多样性，这是从实验室到临床的基因组学发现的一个重要障碍。增加参与者多样性的一种方法是确保知情同意过程针对非多数人群的文化和语言一致性进行设计。本文描述了两项正在使用新颖的知情同意方法来增加传统代表性不足人群的参与者招募和保留的基因组学研究案例：癌症健康评估惠及众多人（CHARM）研究，是临床测序证据生成研究（CSER）联盟的一部分，以及美国所有人研究计划，是精准医学倡议的一部分。最后，我们提出了一个由寻求改进知情同意以增加基因组学研究多样性的研究人员组成的实践社区。
