Embargoed for Release
Thursday, April 29, 2010
5:30 p.m. EDT
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NIGMS Communications Office, 301-496-7301
Alisa Machalek, 301-496-7301

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Patientís Whole Genome Reveals Risk of Diseases and Adverse Drug Responses

Study demonstrates that whole-genome analysis may play future role in clinical medicine

What:

Scientists at Stanford and Harvard Universities collaborated to assess the clinical usefulness of analyzing a patientís full genome for disease risks and unusual drug responses. The work brings closer to reality the concept that whole-genome sequencing might one day play a clinical role.

The analysis, which was supported by the National Institutes of Health (NIH), appears in the May 1, 2010 issue of Lancet.

The authors evaluated the entire genome of a 40-year old man and compared it to several databases of disease-related gene variants. They also factored in the patient's medical and family history and statistical disease risks. As part of the work, the researchers provided the patient with genetic counseling and clinical tests relevant to his family history.

The genome analysis revealed variants associated with diseases in the manís family (osteoarthritis, vascular disease and early sudden death). It also uncovered variants linked to conditions not in his family (iron overload and thyroid and parathyroid diseases). Some variants suggested that he might have unusual responses to certain heart medications, which is meaningful in light of his risk for cardiovascular disorders.

The authors view their work as a proof of concept that whole-genome sequencing can yield clinically useful information for individual patients. They acknowledge that many challenges remain, including the effect of the environment, which is difficult to quantify and often changes throughout a person's life. The paper concludes that the transition to genome-informed medical care will require an integrated team including medical and genetics professionals, ethicists and health-care delivery organizations.

Article: Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NR, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB. Clinical assessment incorporating a personal genome. Lancet, Volume 375:Pages 1525-1535, May 1, 2010.
Who:

Jeremy M. Berg, Ph.D., director of the National Institute of General Medical Sciences (NIGMS), which played a leading role in supporting the research, is available to comment on this article.

Contact To schedule interviews, please contact the NIGMS Communications Office at 301-496-7301 or info@nigms.nih.gov.

In addition to NIGMS, the work was supported by the National Heart, Lung, and Blood Institute; the National Human Genome Research Institute; and the National Library of Medicine.

NIGMS is a part of NIH that supports basic research to increase our understanding of life processes and lay the foundation for advances in disease diagnosis, treatment and prevention. For more information on the Institute's research and training programs, see http://www.nigms.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIH...Turning Discovery Into Health ®

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