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Genome Sequencing Yields Valuable Clinical Information

Analysis of whole genome in 40-year-old man suggests coronary risks and likely drug responses

FRIDAY, April 30 (HealthDay News) -- Whole-genome sequencing holds promise as a source for clinically relevant information about an individual's increased disease risk or likely responses to certain drug treatments, according to an article in the May 1 issue of The Lancet.

Euan A. Ashley, of the Stanford University School of Medicine in California, and colleagues evaluated a 40-year-old man who had a family history of coronary artery disease (CAD) and sudden death, but had no symptoms himself. The researchers analyzed the patient's full genome sequence. They developed a method to integrate genetic, clinical, and environmental factors to predict the man's risks, and then conducted genetic counseling.

The genome sequencing of 2.6 million single nucleotide polymorphisms and 752 copy number variations found that the man was at risk for heart attack, some cancers and type 2 diabetes, and had rare variants in three genes associated with sudden cardiac death. Other variants were consistent with family history of CAD and osteoarthritis, which also occurred in the patient's family. He had genetic variants indicating a good response to statins but likely resistance to the antiplatelet drug clopidogrel. Another variant suggested he might require lower warfarin dosing, if that treatment were ever required.

"Although the methods that we used are nascent, the results provide proof of principle that clinically meaningful information can be derived about disease risk and response to drugs in patients with whole genome sequence data," the authors write.

Two authors disclosed ties to sequencing and/or direct-to-consumer genetic testing companies, and several authors disclosed ties to pharmaceutical and medical device companies.

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