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Patient's whole genome reveals risk of diseases and adverse drug responses

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.


Contact: Alisa Machalek
NIH/National Institute of General Medical Sciences

Page: 1

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