Diversity in Practice: the Quest for Inclusion in Precision Medicine

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.