NEJM-Kraft_Rwethere - PE R S PE C T IV E Genomewide...

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n engl j med 360;17 april 23 , 2009 PERSPECTIVE 1701 yielded important new biologic insights for at least four common diseases or polygenic traits — and that efforts to develop new and improved treatments and preven- tive measures on the basis of these insights will be well under way. Dr. Hirschhorn reports receiving consult- ing fees from Correlagen and Ipsen, having an equity interest in Correlagen, receiving lec- ture fees from Pfizer, and receiving grant support from Novartis. No other potential conflict of interest relevant to this article was reported. This article (10.1056/NEJMp0808934) was published at on April 15, 2009. Dr. Hirschhorn is an associate professor in the Program in Genomics and the Divisions of Genetics and Endocrinology, Children’s Hospital, Boston; an associate professor of genetics at Harvard Medical School, Bos- ton; and an associate member and coordi- nator of the Metabolism Initiative at the Broad Institute of Harvard and MIT, Cam- bridge, MA. Altshuler D, Daly MJ, Lander ES. Genetic 1. mapping in human disease. Science 2008; 322:881-8. Mohlke KL, Boehnke M, Abecasis GR. 2. Metabolic and cardiovascular traits: an abun- dance of recently identified common genetic variants. Hum Mol Genet 2008;17:R102- R108. Lettre G, Rioux JD. Autoimmune diseases: 3. insights from genome-wide association stud- ies. Hum Mol Genet 2008;17:R116-R121. Hirschhorn JN, Lettre G. Progress in ge- 4. nome-wide association studies of human height. Horm Res (in press). Styrkarsdottir U, Halldorsson BV, Gretars- 5. dottir S, et al. Multiple genetic loci for bone mineral density and fractures. N Engl J Med 2008;358:2355-65. Copyright © 2009 Massachusetts Medical Society. Genomewide Association Studies — Illuminating Biologic Pathways Genetic Risk Prediction — Are We There Yet? Peter Kraft, Ph.D., and David J. Hunter, M.B., B.S., Sc.D., M.P.H. A major goal of the Human Genome Project was to facili- tate the identification of inherit- ed genetic variants that increase or decrease the risk of complex diseases. The completion of the International HapMap Project and the development of new methods for genotyping individual DNA samples at 500,000 or more loci have led to a wave of discoveries through genomewide association studies. These analyses have iden- tified common genetic variants that are associated with the risk of more than 40 diseases and hu- man phenotypes. Several compa- nies have begun offering direct- to-consumer testing that uses the same single-nucleotide polymor- phism chips that are used in genomewide association studies. These companies claim that such testing should be made available to consumers who are interested in their personal level of risk for the relevant diseases. Now, “risk tests” for specific diseases such as breast cancer are also being marketed to physicians and con- sumers. 1
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NEJM-Kraft_Rwethere - PE R S PE C T IV E Genomewide...

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