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Human genome variation and 'race'

  November, 9 2004 9:27
your information resource in human molecular genetics
The human genome contains both enough variation for us all to be genetically unique individuals and little enough variation that it is clear we are all members of one human race.

A special issue of the journal Nature Genetics, "Genetics for the Human presents a comprehensive survey of what we currently know about the science of human genetic variation. It emerges that the widespread use of 'race' as a proxy is inhibiting scientists from doing their job of separating and identifying the real environmental and genetic causes of disease.

In the first of three commentaries, Charmaine Royal and Georgia Dunston emphasize that it is time to replace concepts of race with discussion of human genome variation as it really is. Francis Collins advises that fixed racial and ethnic labels provide only partial and indirect information about the gene variants a person is likely to carry: researchers must look deeper for genetic and environmental causes of disease. In the third and final commentary, Mildred Cho and Pamela Sankar warn against using DNA markers of ancestry for forensic applications - as opposed to medical uses.

Accompanying this, there are also seven review articles, which investigate the field as a whole. They describe the new human focus for ethically driven research that makes use of human genome variation. Charles Rotimi describes the challenges of using the population and ethnic information collected with the genome-wide markers in the international HapMap initiative that aims to provide mapping tools for genetic epidemiology. Sarah Tate and David Goldstein cite published records that at least 29 medicines have been claimed to differ in safety or efficacy between racial or ethnic groups. They go on to discuss how medical researchers should use the gene variants spread throughout these groups to ensure that all people have access to effective medicines, whilst Shomarka Keita and colleagues explain that no human groups fit a biologist's definition of a race.

The history of the major continental populations can be read in the DNA. Even so, Sarah Tishkoff and Kenneth Kidd trace all human populations to our recent common origin in Africa and conclude that biomedical studies require more ancestral information than 'racial' labels supply. Lynn Jorde and Stephen Wooding emphasize that the clustering of genotypes into continental 'races' breaks down to reveal a continuous population as more individuals are added.

Does the small number of genetic differences between 'racial' and 'ethnic' groups contribute to group differences in observable traits and to health disparities? Joanna Mountain and Neil Risch caution that it is premature to attribute all of these differences to the genes, since genetic influences on complex diseases and on behavior are currently largely unknown. Esteban Parra and colleagues found that skin pigmentation was poorly explained by ancestry and that the correlation varied remarkably among the populations examined.

This supplement to Nature Genetics was sponsored by the US Department of Energy and the National Human Genome Research Institute of the National Institutes of Health through Howard University and is freely available to all online. For more information, please look at the sponsors' foreword.

Author contacts:

Shomarka Keita
Rick A. Kittles
Charles N. Rotimi
Charmaine D.M. Royal
c/o Derede McAlpin (Howard University, Washington DC, USA)
Tel: +1 202 238 2332, E-mail: dmcalpin@howard.edu

Francis Collins (National Human Genome Research Institute, Bethesda, MD, USA)
Tel: +1 301 496 0844, E-mail: fc23a@nih.gov

Daniel W. Drell (Department of Energy, USA)
Tel: + 1 301 903 4742, E-mail: daniel.drell@science.doe.gov]

Mark D. Shriver (Pennsylvania State University, University Park, PA, USA)
Tel: +1 814 863 1078, E-mail: Mds17@psu.edu

Lynn B. Jorde (University of Utah School of Medicine, Salt Lake City, UT, USA)
Tel: +1 801 581 4566, E-mail: lbj@genetics.utah.edu

Sarah A. Tishkoff (University of Maryland, College Park, MD, USA)
Tel: +1 301 405 6038, E-mail: st130@umail.umd.edu

Kenneth Kidd (Yale University School of Medicine, New Haven, CT)
Tel: +1 203 785 2654, E-mail: kenneth.kidd@yale.edu

David B. Goldstein (University College London, UK)
Tel: +44 20 7679 2808, E-mail: d.goldstein@ucl.ac.uk

Neil J. Risch (Stanford Medical School, Stanford University, CA, USA)
Tel: +1 650 725 5967, E-mail: risch@lahmed.stanford.edu

Joanna Mountain (Stanford Medical School, Stanford University, CA, USA)
Tel: +1 650 725 5009, E-mail: mountain@stanford.edu

Mildred K Cho (Stanford Center for Biomedical Ethics, CA, USA)
Tel: +1 650 725 7993, E-mail: micho@stanford.edu

Editorial contact:

Myles Axton (Editor, Nature Genetics, New York, NY, USA)
Tel: +1 212 726 9314, E-mail: m.axton@natureny.com

Table of contents

Sponsor's foreword


Changing the paradigm from 'race' to human genome variation (Charmaine D M Royal & Georgia M Dunston)

Forensic genetics and ethical, legal and social implications beyond the clinic (Mildred K Cho & Pamela Sankar)

What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era (Francis S Collins)

Conceptualizing human variation (S O Y Keita, R A Kittles, C D M Royal, G E Bonney,

Implications of biogeography of human populations for 'race' and medicine (Sarah A Tishkoff & Kenneth K Kidd)

Genetic variation, classification and 'race' (Lynn B Jorde & Stephen P Wooding)

Will tomorrow's medicines work for everyone? (Sarah K Tate & David B Goldstein)

Are medical and nonmedical uses of large-scale genomic markers conflating genetics and 'race'? (Charles N Rotimi)

Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups (Joanna L Mountain & Neil Risch)

Implications of correlations between skin color and genetic ancestry for biomedical research (E J Parra, R A Kittles & M D Shriver)

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza

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