Diversity in Practice: the Quest for Inclusion in Precision Medicine

项目总结/摘要 对基因组数据集多样性缺口的广泛认识，推动了有针对性的招募和保留的呼声 来自历史上没有参与生物医学研究的人群的个体。然而， 什么是多样性，谁是多样性的依据，以及如何最好地实现包容性目标，仍然是难以捉摸的问题。 精准医学研究（PMR）是科学探究的重要和重要领域， 关于多样性的意义和影响的问题正在实践中得到解决， 制度化。加强少数种族和族裔人口的多样性和包容性的办法 精准医学研究是异质性的，但对其影响知之甚少。为了填补这一空白，我们 开始进行三项研究，从经验上审查不同利益相关者的观点和经验， PMR及其各种方法，以加强多样性和包容性的代表性不足的人口， 研究参与者。该项目将综合这些研究的数据和发现， 这将是第一本书的长度分析多样性在实践中的PMR，其后果有意义的 包容。这项拨款申请的具体目的是完成一本书的手稿，将审查 多样性和包容性概念的道德和社会层面，如何通过 精准医学研究的利益相关者，以及他们对我们理解健康和人类的影响 变化量本书中包含的数据来自三项由共同作者领导的NIH资助的研究， 包括种族和民族多样化的患者的焦点小组，以评估他们对使用的态度， 临床数据和样本的管理;对三个NIH资助的PMR联盟相关文件的审查 和5个PMR研究站点;观察PMR联盟和站点活动;以及对PMR的深入访谈 资助者、研究人员、参与者和来自不同人群的个人被招募参加PMR。这样的 本书将提供一个经验丰富，民族丰富的分析和反思如何PMR多样性 实践正在展开，以及对它寻求服务的人群和更大的人群产生了什么样的后果， 社会，它是嵌入和帮助塑造。本书的目标读者包括：研究人员 进行基因组学和精准医学研究的决策者和研究资助者， 机构和研究人员，参与生物医学研究的商业实体，生物伦理学学者， 社会学和人类学，科学和技术研究，卫生政策，以及总干事的成员。 对健康、遗传学和生物医学研究感兴趣的公众。

PROJECT SUMMARY/ABSTRACT Broad recognition of a diversity gap in genomic datasets has fueled calls for targeted recruitment and retention of individuals from populations that have historically not participated in biomedical research. Yet, definitions of what constitutes diversity, according to whom, and how best to implement goals of inclusion remain elusive. Precision medicine research (PMR) is a significant and consequential sphere of scientific inquiry where questions about the meanings and effects of diversity are being worked out in practice and increasingly institutionalized. Approaches to increasing diversity and inclusion of racial and ethnic minority populations in precision medicine research are heterogeneous, but little is known about their impact. To fill this gap, we have embarked on three studies that empirically examine different stakeholder perspectives and experiences with PMR and its varied approaches to enhancing diversity and inclusion of underrepresented populations as research participants. This project will synthesize data and findings from across these studies, to develop what will be the first book-length analysis of diversity in practice in PMR, and its consequences for meaningful inclusion. The specific aim of this grant application is to complete a book manuscript that will examine the ethical and social dimensions of concepts of diversity and inclusion, how they are put into practice by stakeholders in precision medicine research, and their impacts for our understandings of health and human variation. The data to be included in this book come from three NIH-funded studies led by the co-authors that include focus groups with racially and ethnically diverse patients to assess their attitudes towards the use and governance of clinical data and samples; a review of documents related to three NIH-funded PMR consortia and 5 PMR research sites; observations of PMR consortia and site activities; and in-depth interviews with PMR funders, researchers, participants, and individuals from diverse populations being recruited for PMR. Such a book will offer an empirically informed, ethnographically rich analysis and reflection on how PMR diversity practices are unfolding, and with what consequences for the populations it seeks to serve and for the larger society in which it is embedded and helps to shape. The target audiences for this book include: researchers who conduct genomics and precision medicine research, policymakers and research funders, research institutions and research staff, commercial entities involved in biomedical research, scholars in bioethics, sociology and anthropology, science and technology studies, and health policy, and members of the general public with interests in health, genetics, and biomedical research.