Mixed Race Studies

Changing the paradigm from ‘race’ to human genome variation

Nature Genetics
Volume 36, Number 11s (2004)
pages S5-S7
DOI: 10.1038/ng1454

Charmaine D. M. Royal, Associate Research Professor
Institute for Genome Sciences & Policy; Department of African and African American Studies
Duke University

Georgia M. Dunston, Founding Director, National Human Genome Center
Howard University

Knowledge from the Human Genome Project and research on human genome variation increasingly challenges the applicability of the term ‘race’ to human population groups, raising questions about the validity of inferences made about ‘race’ in the biomedical and scientific literature. Despite the acknowledged contradictions in contemporary science, population-based genetic variation is continually used to explain differences in health between ‘racial’ and ‘ethnic’ groups. In this commentary we posit that resolution of apparent paradoxes in relating biology to ‘race’ and genetics requires thinking ‘outside of the box’.

Introduction to the state of the science

Knowledge gained from the Human Genome Project and research on human genome variation is forcing a paradigm shift in thinking about the construct of ‘race’, much like the process described by Thomas Kuhn in his renowned book, The Structure of Scientific Revolutions. Kuhn describes the paradigm shift in science as occurring when anomalous, scientific results cannot be explained by inadequate methods. With an accumulation of such anomalies, scientists must begin to consider that the paradigm or model of reality under which the hypotheses are tested has shifted and is no longer valid. Today, scientists are faced with this situation in genomics, where existing biological models or paradigms of ‘racial’ and ‘ethnic’ categorizations cannot accommodate the uniqueness of the individual and universality of humankind that is evident in new knowledge emerging from human genome sequence variation research and molecular anthropological research. The paradigms of human identity based on ‘races’ as biological constructs are being questioned in light of the preponderance of data on human genome sequence variation and reflect the need for a new explanatory framework and vision of humankind with different fundamental assumptions about biological groups that can accommodate new knowledge from a new generation of research.

Discourse on the validity of ‘racial’ categorization in humans is certainly not new and will perhaps continue for generations to come, taking on various forms as new scientific and nonscientific knowledge emerges. Shifts have occurred over time from a purely anthropological or biological debate to conversations about numerous psychosocial, societal, ethical and legal ramifications indicative of the undeniable applicability of the topic of ‘race’ to virtually every aspect of human existence.

This commentary describes the intellectual climate under which new information from human genome research is introduced into twenty-first-century biomedical science and society, new information that forces a more integrative construct of human biology and disease. The discordance between ‘race’ and human genome variation sets the stage for an analysis of the state of the science on human genome variation and ‘race’ and the relationship between genome variation and population differences in health and disease. The paper also provides a brief background for, and overview of, this Supplement to Nature Genetics…

…As previously indicated, much of the current literature on genetics and health disparities emphasizes the potential dangers of connecting genetics with disparities, and relatively little research has been directed towards the potential of genomics to further understand health disparities in ways that can accomplish the US public health objectives of Healthy People 2010: a long and healthy life for all and the elimination of health disparities. Conditions are prime for the application of knowledge gained from research on the structure of DNA sequence variation in African and African Diaspora populations to probe the influence of gene-environment interactions in race- and ethnicity-based health disparities. With plans underway for the Translational Genomics Research in the African Diaspora initiative, the NHGC is positioned to lead the US and the global community with a large-scale, interdisciplinary project for human genome research in the African Diaspora. Translational Genomics Research in the African Diaspora will be a population-based resource for translational genomics in clinical research, which capitalizes on the evolutionary and migration history of Africans and the African Diaspora, and a resource for dissecting the contributions of gene-environment interactions (environment broadly defined to include psychosocial, cultural and other subjective factors) to disease susceptibility and response to medicines…

Read the entire commentary here.