Mixed Race Studies

The Meanings of “Race” in the New Genomics: Implications for Health Disparities Research

Yale Journal of Health Policy, Law, and Ethics
Volume 1, Issue 1 (2001)
pages 33-76

Sandra Soo-Jin Lee, Senior Research Scholar
Stanford Center for Biomedical Ethics
Stanford University

Joanna Mountain, Assistant Professor of Anthropological Genetics
Stanford University

Barbara A. Koenig, Professor of Biomedical Ethics and of Medicine at the College of Medicine, Mayo Clinic;
Affiliate Faculty of the Center for Bioethics, University of Minnesota, Minneapolis;
Stanford Center for Biomedical Ethics, Stanford University

Eliminating the well-documented health disparities found within the United States population is a laudable public policy goal. Social justice demands that we understand the sources of health inequality in order to eliminate them. A central dilemma is: To what extent are health disparities the result of unequal distribution of resources, and thus a consequence of varied socioeconomic status (or blatant racism), and to what extent are inequities in health status the result of inherent characteristics of individuals defined as ethnically or racially different? How we conceptualize and talk about race when we ask these questions has profound moral consequences. Prior to the Human Genome Project (HGP), scientific efforts to understand the nature of biological differences were unsophisticated. The new technologies for genomic analysis will likely transform our thinking about human disease and difference, offering the promise of in-depth studies of disease incidence and its variations across human populations. In her opening remarks at a meeting of the President’s Cancer Panel, which focused on health disparities in cancer treatment in the United States, Dr. Karen Antman noted that racial differences in cancer rates have been reported for decades, “but for the first time, science now has the opportunity to quantify such differences genetically.” Will the light refracted through the prism of genomic knowledge illuminate straightforward explanations of disease etiology, offering simple solutions to health inequalities? Or are there consequences, currently hidden in the shadows, that require our attention?

The challenge is then to analyze the causes of racism while avoiding the implication that race exists.
-Steven Miles, 1993

A foolish consistency is the hobgoblin of little minds, adored by little statesmen and philosophers and divines.
-Ralph Waldo Emerson, “Self-Reliance,” 1841

Eliminating the well-documented health disparities found within the United States population is a laudable public policy goal. Social justice demands that we understand the sources of health inequality in order to eliminate them. A central dilemma is: To what extent are health disparities the result of unequal distribution of resources, and thus a consequence of varied socioeconomic status (or blatant racism), and to what extent are inequities in health status the result of inherent characteristics of individuals defined as ethnically or racially different? How we conceptualize and talk about race when we ask these questions has profound moral consequences.

Prior to the Human Genome Project (HGP), scientific efforts to understand the nature of biological differences were unsophisticated. The new technologies for genomic analysis will likely transform our thinking about human disease and difference, offering the promise of in-depth studies of disease incidence and its variations across human populations. In her opening remarks at a meeting of the President’s Cancer Panel, which focused on health disparities in cancer treatment in the United States, Dr. Karen Antman noted that racial differences in cancer rates have been reported for decades, “but for the first time, science now has the opportunity to quantify such differences genetically.” Will the light refracted through the prism of genomic knowledge illuminate straightforward explanations of disease etiology, offering simple solutions to health inequalities? Or are there consequences, currently hidden in the shadows, that require our attention?…

…Increasing ability to detect genetic mutations linked to disease susceptibility has not been paralleled by therapeutic discoveries. This disjuncture has contributed to the conflict about population-based testing and disagreement about the calculus of the largely unknown risks and benefits to individuals and populations. Knowing one has a BRCA mutation does not mean that one will ultimately develop cancer. Individuals must interpret complex, uncertain information to make sense of their cancer risk, and are often confused as to how to make sense of genetic information. The additional burden of contemplating the ramifications of targeted testing of their community, including the possibility of categorical discrimination and prejudice, is a daunting challenge. The mutations found most commonly among those of Ashkenazi ancestry were identified by chance. Blood stored for other purposes, notably screening for Tay Sachs, a heritable disease, was available for research. Other mutations in the BRCA-1 and BRCA-2 genes are specific to certain groups, generally isolated populations such as those in Iceland or Finland. How will knowledge that common diseases are associated with socially identifiable populations affect the treatment of those individuals? But more importantly, how will an increasingly sophisticated knowledge of molecular genetics affect our understanding of the nature of “difference” among human groups?…

…In this paper we provide a strong critique of the continued use of race as a legitimate scientific variable. We offer an historical analysis of how the concept of race has changed in the United States and discuss the reification of race in health research. We discuss how genetic technology has been deployed in “proving” racial identity, and describe the consequences of locating human identity in the genes. The implications of the continued use of race in the new genomic medicine—in particular the creation of racialized diseases—is highlighted. We warn about the consequences of a shift toward population-based care, including targeted genetic screening for racially identified “at-risk” groups, including the potential for stigmatization and discrimination. A less commonly identified hazard is the epistemological turn towards genetic reductionism. We suggest that the application of a naive genetic determinism will not only reinforce the idea that discrete human races exist, but will divert attention from the complex environmental, behavioral, and social factors contributing to an excess burden of illness among certain segments of the diverse U.S. population. The intersection of the genomics revolution with the health disparities initiative should serve as a catalyst to a long overdue public policy debate about the appropriate use of the race concept in
biomedical research and clinical practice…

Read the entire article here.

Race and ancestry in biomedical research: exploring the challenges

Genome Medicine 2009
Volume 1, Number 8 (2009-01-21)
DOI: 10.1186/gm8

Timothy Caulfield
Faculty of Law and School of Public Health Research, Health Law Institute
University of Alberta

Stephanie M Fullerton
Department of Medical History and Ethics and Department of Genome Sciences
University of Washington School of Medicine

Sarah E Ali-Khan
Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network
University of Toronto

Laura Arbour
Faculty of Medicine, Island Medical Program
University of British Columbia

Esteban G. Burchard
Department of Biopharmaceutical Sciences and Department of Medicine, Divisions of Pharmaceutical Sciences and Pharmacogenetics, Pulmonary & Critical Care Medicine, and Clinical Pharmacology
University of California, San Francisco

Richard S. Cooper
Department of Epidemiology & Preventive Medicine, Stritch School of Medicine
Loyola University

Billie-Jo Hardy
Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network
University of Toronto

Simrat Harry
Faculty of Law and School of Public Health Research, Health Law Institute
University of Alberta

Robyn Hyde-Lay
Genome Alberta, Calgary, Alberta, Canada

Jonathan Kahn
Hamline University School of Law

Rick Kittles
Department of Medicine, Section of Genetic Medicine, Department of Human Genetics
University of Chicago

Barbara A. Koenig
Program in Professionalism & Bioethics
Mayo College of Medicine

Sandra S. J. Lee
Stanford Center for Biomedical Ethics
Stanford University Medical School

Michael Malinowski
Paul M Hebert Law Center
Louisiana State University, Baton Rouge

Vardit Ravitsky
Department of Medical Ethics and Center for Bioethics
University of Pennsylvania, Philadelphia

Pamela Sankar
Department of Medical Ethics and Center for Bioethics
University of Pennsylvania, Philadelphia

Stephen W. Scherer
for Applied Genomics, The Hospital for Sick Children, and Department of Molecular Genetics
University of Toronto

Béatrice Séguin
Leslie Dan School of Pharmacy; Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network
University of Toronto

Darren Shickle
Leeds Institute of Health Sciences,
University of Leeds, United Kingdom

Guilherme Suarez-Kurtz
Pharmacology Division
Instituto Nacional de Câncer, Rio de Janeiro, Brazil

Abdallah S. Daar
Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network; Department of Public Health Sciences and of Surgery; McLaughlin Centre for Molecular Medicine; Department of Medicine
University of Toronto

The use of race in biomedical research has, for decades, been a source of social controversy. However, recent events, such as the adoption of racially targeted pharmaceuticals, have raised the profile of the race issue. In addition, we are entering an era in which genomic research is increasingly focused on the nature and extent of human genetic variation, often examined by population, which leads to heightened potential for misunderstandings or misuse of terms concerning genetic variation and race. Here, we draw together the perspectives of participants in a recent interdisciplinary workshop on ancestry and health in medicine in order to explore the use of race in research issue from the vantage point of a variety of disciplines. We review the nature of the race controversy in the context of biomedical research and highlight several challenges to policy action, including restrictions resulting from commercial or regulatory considerations, the difficulty in presenting precise terminology in the media, and drifting or ambiguous definitions of key terms.

Correspondence

Recent advances in biomedical research promise increasing insights into complex contributions to traits and diseases, and there is hope that these will lead to global health benefits [1,2] . Analytical and social-justice considerations both recommend thoughtful assessment of the role of social identity, particularly racial or ethnic identity, in the design, conduct and dissemination of clinical and basic science research. Controversies ranging from James Watson’s comments on racial differences in intelligence [3] to the adoption of racially targeted pharmaceuticals, such as the African-American heart-failure drug BiDil [4-7] , remind us that use of the concept of race in biomedical research can have far-reaching, often unanticipated social consequences.

The problem of race in scientific research is not a new one, and the issue seems to perpetually reappear and remain fundamentally unresolved [8] . We are, however, entering a new era in which the fruits of initiatives, such as the Human Genome Project [9,10] , the International Haplotype Map Project [11] , and the recently proposed 1000 Genomes Project [12] , promise to elaborate more fully than ever before the nature and extent of human genetic variation and its relation to social identity. A recent interdisciplinary workshop, ‘Ancestry in health and medicine; expanding the debate’, hosted by the Alberta Health Law Institute and the McLaughlin-Rotman Centre for Global Health, in Toronto, Canada, sought to debate the current status and concerns surrounding these new scientific data, how we relate genetic variation to individual and population-level differences in observable traits, and what this might mean for the effective addressing of significant disparities in health status and disease. A central motivating consideration was how best to secure the anticipated benefits of genetic and related forms of biomedical research in the face of inevitable misunderstandings or misuse concerning genetic variation and race.

Here, we draw together the perspectives of the scholars who participated in the workshop, who have considered the race issue from the vantage point of a variety of disciplines: anthropology, bioethics, clinical medicine, ethical, social, cultural studies, genetic epidemiology, genome sciences, global heath research, law and the social sciences. We review the nature of the race controversy in the context of biomedical research and highlight several challenges to policy action…

Read the entire correspondence here.