Distinctions Without a Difference?:
Ethnicity and Race in Genetic Research

By Phyllis Griffin Epps

Race, a difficult concept to define in anyway the satisfies the rigor of scientific inquiry, has been used in a way that attributed biological and social importance to classification of persons by such characteristics as skin color, facial features, and hair texture. A growing body of evidence, based in no small part on advances in genetic research, suggests that the visible physical characteristics that underlie historical racial identifiers are of extremely limited significance in many contexts where racial identifiers appear. Consequently, there are calls to end the usage of racial identifiers in medial research. Proponents of this view cite not only the flaws in the use of race as biology but also the social harms wrought by validation of race in any context. Others counter that the abandonment of race without a simultaneous commitment to address the impact of racism on physical and social environs as well as health status is reprehensible. Particularly in the United States, where large disparities in health status exist between historically used racial groups, the suggestion that race be abandoned entirely ignores the interests of the very groups that continue to suffer the effects of racism. The resolution of this debate may lie in distinguishing between race as an inaccurate term of significant biology and race as a proxy for culture, social history, and ancestry. The latter approximates common definitions of "ethnicity", a broader and arguably more useful concept.

The movement beyond the traditional meaning of race is partly illustrated in the field of pharmacogenetics. Pharmacogenetic research attempts to reveal and clarify genetic influences on drug response in a way that would guide future efforts in drug development. Variations in genetic composition such as single nucleotide polymorphisms (SNPs) can explain different abilities to benefit from a particular drug. In many instances, polymorphisms of pharmacological significance occur with varying frequency in different ethnic groups. There is no SNP that does not appear on some level in every group, but patterns in the distribution of each across different ethnic groups are evident. Consequently, studies in pharmacogenetics often focus upon groups of people living in different parts of the globe. A simple study dedicated to the isolation of a polymorphism relevant to the absorption of a type of drug therapy may compare samples of genetic material from coastal Africa, Scandinavia, and a region within China. The comparison yields a more comprehensive understanding of how, despite overwhelming similarities, small differences in genetic composition and environment might explain why one drug might produce different results in different groups of people. The ultimate result is the production and administration of drug therapy that best accommodates the presence of certain genetic variations.

The relationship of ethnicity to pharmacogenetics presents the researcher with an interesting question: is ethnicity integral or merely incidental to rigorous efforts to understand how genetic variations influence drug response? The answer will depend on the context. Efforts in research to measure ethnicity for the purpose of replicating diversity in the human genome will require great care in communicating results so as not to minimize misinformation and validation of traditional uses of race that have been disproved. The use of racial classifications in other contexts must similarly be justified carefully and not casually. A rich history of abuse based on race has resulted in cultural and social differences that are neither easily nor appropriately ignored. With the changing meaning of what characterizes meaningful biological difference, however, social discourse must be held to high standards.