The Ethics of Inclusion:
Diversity in Precision Medicine Research
(R01 HG010330) PI: Lee/MPI: Shim
A major challenge for precision medicine research is including historically under-represented groups in numbers sufficient to ensure statistically valid inferences of the influence of relevant risk factors, including genetic contributions to disease risk. Precision medicine researchers have recognized the critical need to enhance diversity and have implemented a wide variety of approaches to achieve this. All such approaches, however, are shaped by stakeholders’ understandings of what kinds of diversity matter, the local logistical constraints under which precision medicine research is actually being conducted, and the responses of communities to those approaches. Investigating these complex factors from the perspectives of multiple stakeholders in precision medicine research will be essential to effectively address longstanding inequities in genomic and related forms of precision medicine research.
Our study seeks to take advantage of the current proliferation of diversity and inclusion practices to study their heterogeneity, commonalities, and effects on diversifying participation in precision medicine research. We will determine through in-depth analyses of PMR studies how concepts such as definitions of diversity (e.g. genetic ancestry markers, self-reported race and ethnicity) impact practices such as retention, engagement, and return of results. Taking a lifecourse perspective to research relationships, we aim to assess how approaches towards diversity and inclusion are managed in tandem with other research goals and the implications of specific trade-offs that result.
Our study aims are to:
- identify scientific and sociopolitical justifications for goals of inclusion and conceptual definitions of diversity in precision medicine research;
- determine how scientific, social and technical factors influence the operationalization of diversity and implementation of inclusion in precision medicine research; and
- engage stakeholders to create data-informed guidance that describes the strengths and weaknesses of diversity and inclusion decisions and practices in precision medicine research.
Sandra Soo-Jin Lee, Ph,D. – PI, Columbia University
Sandra Soo-Jin Lee, PhD is Chief of the Division of Ethics and faculty in the Department of Medical Humanities and Ethics at Columbia University. Trained as a medical anthropologist, Dr. Lee has extensive experience leading empirical bioethics research on the sociocultural and ethical dimensions of emerging genomic technologies. Her work focuses on approaches to the governance and use of biospecimens and patient data in research and the inclusion and categorization of population diversity in studies of human genetic variation. Her projects include Beyond Consent: Patient Preferences for Governance of Use of Clinical Samples and Data and Social Networking and Personal Genomics: Implications for Health Research. Dr. Lee publishes broadly in the genomics, medical, bioethics, and social science literatures, and co-edited Revisiting Race in a Genomic Age (2008). Dr. Lee has served as Chairperson of the Institutional Review Board at the Cancer Prevention Institute of California and on the NIH/NHGRI Coriell Consultation and Oversight Committee of the International Haplotype Map. Dr. Lee currently serves on the Scientific and Bioethics Advisory Boards of the Kaiser Permanente National Research Biobank and the NIH/NHGRI Genomics and Society Working Group.
Janet Shim, Ph.D. – MPI, University of California, San Francisco
Janet K. Shim, PhD, MPP, is Professor of Sociology and Chair of the Department of Social and Behavioral Sciences at the University of California, San Francisco. She received a Master of Public Policy from Harvard University and her PhD in Sociology from the University of California, San Francisco. Her current program of research focuses on two main areas: the sociological analysis of the science of health disparities and the study of the interactional dynamics of healthcare encounters and their consequences. Her work has been supported by grants from the National Institutes of Health and the National Science Foundation. She is a co-editor of Biomedicalization: Technoscience, Health, and Illness in the U.S. (Duke University Press, 2010) and the author of Heart-Sick: The Politics of Risk, Inequality, and Heart Disease (New York University Press, 2014), which was a finalist for the C. Wright Mills Award from the Society for the Study of Social Problems. Her articles have appeared in journals such as American Sociological Review, Journal of Health and Social Behavior, Medical Anthropology Quarterly, Science, Technology & Human Values, Social Science and Medicine, Social Studies of Science, and Sociology of Health and Illness.
Stephanie Malia Fullerton, DPhil. – Co-I, University of Washington
Stephanie Malia Fullerton, DPhil, is Associate Professor of Bioethics and Humanities at the University of Washington School of Medicine. She is also Adjunct Associate Professor in the UW Departments of Epidemiology, Genome Sciences, and Medicine (Medical Genetics), as well as an affiliate investigator with the Public Health Sciences division of the Fred Hutchinson Cancer Research Center. She received a PhD in Human Population Genetics from the University of Oxford and later re-trained in Ethical, Legal, and Social Implications (ELSI) research with a fellowship from the NIH National Human Genome Research Institute.
Dr. Fullerton’s work focuses on the ethical and social implications of genomic research and its equitable and safe translation for clinical and public health benefit. She serves as the ELSI lead for the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium coordinating center, co-chairs the TOPMed Consortium ELSI Committee, and chairs the Bioethics Advisory Board of the Kaiser Permanente national Research Bank. She contributes to a range of empirical projects focused on clinical genomics translation and precision medicine approaches to the treatment and prevention of cancer and kidney disease in diverse patient populations.
Aliya Saperstein, Ph.D. – Co-I, Stanford University
Aliya Saperstein, Ph.D is Associate Professor in the Department of Sociology at Stanford University. In 2016, she received the Early Achievement Award from the Population Association of America. She has also been a Visiting Scholar at Sciences Po and the Russell Sage Foundation. Her research focuses on the social processes through which people come to perceive, name, and deploy seemingly immutable categorical differences —such as race and sex—and how such processes create and maintain social inequality.
Her current research projects explore several strands of this subject, including the implications of methodological decisions, especially the measurement of race/ethnicity and sex/gender in surveys, for studies of stratification and health disparities. She also investigates the relationship between individual-level racial fluidity and the maintenance of group boundaries, racial stereotypes, and hierarchies.
Emily Vasquez, MA, ABD – Project Director, Columbia University
Emily Vasquez, MA, ABD is an ethnographer of science, medicine, and public health. Drawing on the sociology of health and medicine, science and technology studies (STS), and critical race studies, her research examines relationships between knowledge, technology, health, identity and social justice. She studies these issues in the context of global health policy and initiatives, especially global and national-level responses to epidemics of chronic disease. Her research has been supported by fellowships from, among others, the National Science Foundation (Science, Technology, and Society Program) and the ACLS/Mellon Foundation. She is a doctoral candidate completing a PhD in sociology and public health in the Department of Sociomedical Sciences at Columbia University.
Mike Bentz, MPH - Research Coordinator, Columbia University
Mike Bentz, MPH was born and raised in a small town in New Jersey, after which he attended Sarah Lawrence College for a BA and UC Berkeley for an MPH. Mike worked for several years on an NIH-funded clinical trial investigating race-specific clinical therapies. This is one of the reasons for which he became interested in the justifications for such therapies and how these justifications intersect with emergent genetics technologies.
Mel Jeske, MA, ABD – Graduate Student Research Assistant, University of California, San Francisco
Melanie (Mel) Jeske is a PhD candidate in Sociology at University of California, San Francisco and is a graduate student researcher on the Ethics of Inclusion study. Her research studies the social, cultural, and political dimensions of emerging biomedical technologies. Mel’s dissertation examines the social and ethical dimensions surrounding the development of “organ chips,” emergent biotechnologies being developed to improve pharmaceutical testing. She received her MS in Science, Technology, and Society, as well as her B.S. in Economics and B.S. in Environmental Studies from Drexel University.
The Ethics of Inclusion:
Conceptualizing Diversity in Genomics Research
(R03 HG010178) PI: Lee
In the emerging era of precision medicine, there have been increasing calls for diversity and the inclusion of historical under-represented racial and ethnic populations in biobanking and precision medicine research. Recent findings suggest that the lack of diversity in genetic repositories may pose serious challenges to identify genetic variants that are clinically significant in certain populations. These concerns have been linked to ethical concerns over disparities in health and disease among racial and ethnic groups. Despite increasing scrutiny of diversity in recruitment efforts in genomics research, there are few studies that integrate scientific, social and ethical concerns that are attached to discourse on diversity. This project aims to provide a conceptual framework of diversity that is multi-disciplinary and takes into the historical and social context in which diversity is invoked in genomics.
The specific aims of this research are:
- To investigate how discourse on human diversity and difference in population based genomics research has changed over time;
- To identify the ethical implications for inclusion of diversity for researcher-participant relationships, including issues related but not limited to “recruitment,” “consent,” “group harm” and “benefit-sharing.
- To develop a conceptual framework for diversity in genomics research that addresses ethical values of respect, beneficence and justice.