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Race, genetics and medicine: does the color of a leopard's spots matter?

Bamshad, Michaela; Guthery, Stephen Lb

doi: 10.1097/MOP.0b013e3282f163ca
Genetics: Edited by Nathaniel H. Robin

Purpose of review Accurate inference of genetic ancestry is critical because common diseases and drug responses can be influenced by genetic factors that vary in frequency or differ altogether among populations. Frequently, clinicians and researchers use popular notions of race to make inferences about a child's genetic ancestry and predict whether he or she carries specific risk factors that influence health. The extent to which race is useful for making such predictions depends on how well race corresponds with genetic inferences of ancestry and whether ancestry is predictive of genotypes associated with risk.

Recent findings Recent studies of human population genetic variation show that while race captures some information about genetic ancestry, particularly in US populations, it often fails to account for admixture and population structure. Ancestry is more accurately inferred by geographical origin or, better yet, explicit genetic data. This is an important result because the genetic variants predicted to underlie common disease are often not common across populations with different ancestry or differ significantly in frequency among such populations.

Summary Geographical origin and explicit genetic data are more accurate predictors of ancestry than race. Using such alternatives is an important step toward identifying genetic risk variants for common pediatric diseases and personalizing disease prevention and intervention strategies.

aDepartments of Pediatrics and Genome Sciences, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington, USA

bDepartment of Pediatrics, University of Utah, Salt Lake City, Utah, USA

Correspondence to Michael Bamshad, MD, Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington School of Medicine, Box 356320, 1959 NE Pacific Street, HSB RR349, Seattle, WA 98195, USA Tel: +206 221 4131; fax: +206 221 3795; e-mail:

© 2007 Lippincott Williams & Wilkins, Inc.