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Genetics, Epidemiology, and Cancer Disparities: Is it Black and White?

Timothy R. Rebbeck, Chanita Hughes Halbert, Pamela Sankar

From the Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics; Department of Psychiatry, Abramson Cancer Center; Department of Medical Ethics; Center for Bioethics, University of Pennsylvania School of Medicine, Philadelphia, PA.

Address reprint requests to Timothy R. Rebbeck, PhD, Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, 904 Blockley Hall, 423 Guardian Dr, Philadelphia, PA 19104-6021; e-mail: trebbeck{at}cceb.med.upenn.edu

Epidemiologic studies attempt to understand the distribution and determinants of human disease. Epidemiologic research often incorporates information about race, ethnicity, or ancestry, usually as a self-identified race or ethnicity (SIRE) variable. Differences in the distribution and determinants of disease on the basis of SIRE may be identified in these studies. In addition, genetic and other biologic differences according to SIRE are frequently reported. If these differences are real and meaningful, they may have value in identifying disease-causative or -preventive factors, and thus may be beneficial to human health. However, the concepts of race, ethnicity, or ancestry are often poorly considered or crudely applied, particularly in genetic studies of disease etiology or outcome. Consequently, results suggesting genetic differences with respect to disease etiology or outcome across SIRE groups may not be meaningful; in fact, these differences may prove harmful if they propagate stereotypes or spurious differences. Therefore, it is critical to properly consider the meaning, definitions, and use of race, ethnicity, or ancestry in molecular epidemiologic studies.

Supported by Public Health Service Grants No. P50-CA105641-TRR, DAMD17-00-1-0262-CHH, R01-HG03191-PS, and the University of Pennsylvania Abramson Cancer Center.

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.

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