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For Immediate Release: April 29, 2010, 8:00 AM EDT

NHLBI Communications Office
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NIGMS Communications Office
Alisa.machalek@nih.gov
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For Immediate Release: April 29, 2010, 8:00 AM EDT

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Patient’s Whole Genome Reveals Risk of Diseases and Adverse Drug Responses

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

Scientists at Stanford and Harvard Universities collaborated to assess the clinical usefulness of analyzing a patient's 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 man's 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.

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. 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.

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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.

Part of the National Institutes of Health, the National Heart, Lung, and Blood Institute (NHLBI) plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The Institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI press releases and other materials are available online at www.nhlbi.nih.gov.

The National Institutes of Health (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. It is the primary Federal agency for conducting and supporting basic, clinical, and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

For the Media

NHLBI Communications Office
nhlbi_news@nhlbi.nih.gov
301-496-4236
Ask for press officer on duty

NIGMS Communications Office
Alisa.machalek@nih.gov
301-496-7301