1, 7 Proponents believe racial categories are useful in generating hypotheses about genetic and environmental risk factors for disease and argue that failure to include variables such as race will retard the progression of medical research. There are a variety of more hypothetical scientific, social, and moral arguments in favor of using a biological definition of race. 1 Currently, the strongest argument in favor of using a biological definition of race in medical science is the genomics movement, a field of scientific investigation that has recently gained momentum by promising to tailor medical therapies using race as a proxy for individual genotyping.
13 – 15 Proponents of a biological definition of race further argue that there may be important interactions between race and genetic characteristics in the susceptibility to disease, making such racial classification useful even when a genetic determinant of a complex disease is present in all racial groups.
1 Although genetic associations are more difficult to identify in complex genetic disorders, genetic variation by race has also been identified for Crohn’s disease and factor V Leiden, a genetic variant associated with thromboembolic disease. This argument is bolstered by examples of rare Mendelian disorders for which the relationship of genes to race is readily apparent, for example, in the Amish, Ashkenazi Jewish, and French Canadian populations. 9 – 12 Those in favor of using a biological definition of race in medical science claim that these findings indicate that the frequency of variant alleles and the frequency of phenotypes (i.e., external expressions of genetic makeup) vary substantially by racial group, leading to racial differences in the expression of the phenotypes themselves in health and disease. Recent population genetics studies have revealed large genetic variations across the 5 racial subpopulations that map to continental ancestry researchers have found delineation of genetic clusters by racial group and race specificity of rare genetic variants. Stimulated by the Healthy People 2010 initiative 5 and an Institute of Medicine report documenting inequities in medical treatment among racial minorities, 6 many health services, social sciences, and public health investigators have come to view race as a social and cultural construct, not a biological construct to be used in studies of race and human illness.ĭifferences of opinion on the appropriate way to apply the construct of race in biomedical and health services research raise 3 important questions for medical and public health practitioners, scientists, policymakers, and funding agencies committed to advancing both biomedical and health disparities research agendas: What are the arguments for and against using a biological definition of race in medical research? What is the best way to articulate a comprehensive health disparities research agenda? What are the current and future roles of genetics in advancing the health disparities research agenda? Health disparities research focuses on understanding the complex associations between race, health, and health care. 4 A central premise of this field of investigation is that race is an inherent biological characteristic that accurately reflects human ancestry and the flow of common threads of genetic material in biologically distinct populations over time and geography. Many scientists believe that an understanding of the unique patterns of genes across patient populations defined by race will help identify populations at risk of developing particular diseases and ultimately enable the medical profession to tailor preventive medicine and therapies to those most likely to respond. 1 – 3 The debate is fueled by the Human Genome Project, the increased technological capacity to map the entire human genome (the library of DNA building blocks), and the concerted national efforts to reduce racial disparities in health and health care. Over the past decade, 2 powerful scientific movements in the United States, population genetics and health disparities research, have re-ignited a contentious debate on the complex relationships between genes, race, and disease.
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