Project description:BackgroundThe rapid progress currently being made in genomic science has created interest in potential clinical applications; however, formal translational research has been limited thus far. Studies of population genetics have demonstrated substantial variation in allele frequencies and haplotype structure at loci of medical relevance and the genetic background of patient cohorts may often be complex.Methods and findingsTo describe the heterogeneity in an unselected clinical sample we used the Affymetrix 6.0 gene array chip to genotype self-identified European Americans (N = 326), African Americans (N = 324) and Hispanics (N = 327) from the medical practice of Mount Sinai Medical Center in Manhattan, NY. Additional data from US minority groups and Brazil were used for external comparison. Substantial variation in ancestral origin was observed for both African Americans and Hispanics; data from the latter group overlapped with both Mexican Americans and Brazilians in the external data sets. A pooled analysis of the African Americans and Hispanics from NY demonstrated a broad continuum of ancestral origin making classification by race/ethnicity uninformative. Selected loci harboring variants associated with medical traits and drug response confirmed substantial within- and between-group heterogeneity.ConclusionAs a consequence of these complementary levels of heterogeneity group labels offered no guidance at the individual level. These findings demonstrate the complexity involved in clinical translation of the results from genome-wide association studies and suggest that in the genomic era conventional racial/ethnic labels are of little value.

| S-EPMC3087725 | biostudies-literature

Center for Medical Genetics

Project description:Data Access Committee EGAC00001001466

| EGAC00001001466 | EGA

A partnership in teaching evidence-based medicine to interns at the University of Washington Medical Center.

Project description: Not available

| S-EPMC1924950 | biostudies-literature

The Dutch retinoblastoma research team from the VU University medical center

Project description:Data Access Committee EGAC00001000431

| EGAC00001000431 | EGA

University College London, Department of Genetics and Genomic Medicine (UCL GGM)

Project description:Data Access Committee EGAC00001002121