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      Race and ancestry in biomedical research: exploring the challenges

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          Abstract

          The use of race in biomedical research has, for decades, been a source of social controversy. However, recent events, such as the adoption of racially targeted pharmaceuticals, have raised the profile of the race issue. In addition, we are entering an era in which genomic research is increasingly focused on the nature and extent of human genetic variation, often examined by population, which leads to heightened potential for misunderstandings or misuse of terms concerning genetic variation and race. Here, we draw together the perspectives of participants in a recent interdisciplinary workshop on ancestry and health in medicine in order to explore the use of race in research issue from the vantage point of a variety of disciplines. We review the nature of the race controversy in the context of biomedical research and highlight several challenges to policy action, including restrictions resulting from commercial or regulatory considerations, the difficulty in presenting precise terminology in the media, and drifting or ambiguous definitions of key terms.

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          Most cited references70

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          A vision for the future of genomics research.

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            Genotype, haplotype and copy-number variation in worldwide human populations.

            Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation of the human species. However, high-resolution surveys of variation in genotype, haplotype and copy number have generally focused on a small number of population groups. Here we report the analysis of high-quality genotypes at 525,910 single-nucleotide polymorphisms (SNPs) and 396 copy-number-variable loci in a worldwide sample of 29 populations. Analysis of SNP genotypes yields strongly supported fine-scale inferences about population structure. Increasing linkage disequilibrium is observed with increasing geographic distance from Africa, as expected under a serial founder effect for the out-of-Africa spread of human populations. New approaches for haplotype analysis produce inferences about population structure that complement results based on unphased SNPs. Despite a difference from SNPs in the frequency spectrum of the copy-number variants (CNVs) detected--including a comparatively large number of CNVs in previously unexamined populations from Oceania and the Americas--the global distribution of CNVs largely accords with population structure analyses for SNP data sets of similar size. Our results produce new inferences about inter-population variation, support the utility of CNVs in human population-genetic research, and serve as a genomic resource for human-genetic studies in diverse worldwide populations.
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              Use of race and ethnicity in biomedical publication.

              Researchers, clinicians, and policy makers face 3 challenges in writing about race and ethnicity: accounting for the limitations of race/ethnicity data; distinguishing between race/ethnicity as a risk factor or as a risk marker; and finding a way to write about race/ethnicity that does not stigmatize and does not imply a we/they dichotomy between health professionals and populations of color. Journals play an important role in setting standards for research and policy literature. The authors outline guidelines that might be used when race and ethnicity are addressed in biomedical publications.
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                Author and article information

                Journal
                Genome Med
                Genome Medicine
                BioMed Central
                1756-994X
                2009
                21 January 2009
                : 1
                : 1
                : 8
                Affiliations
                [1 ]Faculty of Law and School of Public Health Research, Health Law Institute, University of Alberta, 89 Ave and 111 St., T6G 2H5, Canada.
                [2 ]Department of Medical History and Ethics and Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
                [3 ]Program on Life Sciences Ethics and Policy, McLaughlin-Rotman Centre for Global Health, University Health Network, University of Toronto, MaRS Centre, 101 College St, Toronto, Ontario, M5G 1L7, Canada.
                [4 ]Faculty of Medicine, Island Medical Program, University of British Columbia, 3800 Finnerty Rd, Victoria, British Columbia, V8P 5C2, Canada.
                [5 ]Department of Biopharmaceutical Sciences and Department of Medicine, Divisions of Pharmaceutical Sciences and Pharmacogenetics, Pulmonary & Critical Care Medicine, and Clinical Pharmacology, University of California, San Francisco, CA 94143-2911, USA.
                [6 ]Department of Epidemiology & Preventive Medicine, Stritch School of Medicine, Loyola University, 2160 South First Avenue, Maywood, IL 60153, USA.
                [7 ]Genome Alberta, 3553-31 St NW, Calgary, Alberta, T2L 2K7, Canada.
                [8 ]Hamline University School of Law, 1536 Hewitt Avenue, St. Paul, MN 55104, USA.
                [9 ]Department of Medicine, Section of Genetic Medicine, Department of Human Genetics, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA.
                [10 ]Program in Professionalism & Bioethics, Mayo College of Medicine, 200 First St SW, Rochester, MN 55905, USA.
                [11 ]Stanford Center for Biomedical Ethics, Stanford University Medical School, 701 Welch Rd, Palo Alto, CA 94304, USA.
                [12 ]Paul M Hebert Law Center, Louisiana State University, 1 East Campus Drive, Baton Rouge, LA 70803, USA.
                [13 ]Department of Medical Ethics and Center for Bioethics, University of Pennsylvania, 3401 Market St, Philadelphia, PA 19104, USA.
                [14 ]The Centre for Applied Genomics, The Hospital for Sick Children, and Department of Molecular Genetics, University of Toronto, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada.
                [15 ]Leslie Dan School of Pharmacy, University of Toronto, 144 College St, Toronto, Ontario, M5S 3M2, Canada.
                [16 ]Leeds Institute of Health Sciences, University of Leeds, 101 Clarendon Rd, Leeds, LS2 9LJ, UK.
                [17 ]Pharmacology Division, Instituto Nacional de Câncer, Rua André Cavalcanti 37, Rio de Janeiro 20231-050, Brazil.
                [18 ]Department of Public Health Sciences and of Surgery, University of Toronto, 155 College St, Toronto, Ontario, M5T 3M7, Canada.
                [19 ]McLaughlin Centre for Molecular Medicine, University of Toronto, MaRS Centre, 101 College St, Toronto, Ontario, M5G 1L7, Canada.
                [20 ]Department of Medicine, University of Toronto and University Health Network, 190 Elizabeth St, Toronto, Ontario, M5G 2C4, Canada.
                Article
                gm8
                10.1186/gm8
                2651580
                19348695
                02f72432-572a-4783-a888-9399a6507433
                Copyright ©2009 BioMed Central Ltd
                History
                Categories
                Correspondence

                Molecular medicine
                Molecular medicine

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