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Whole genome sequencing data vaults into clinic

There's a good reason why these two are smiling. Cardiologist Euan Ashley, MD, and bioengineer Stephen Quake, PhD, are two members of an extensive team of clinicians, geneticists, bioethicists and bioinformaticians at Stanford's School of Medicine who worked together to devise the first-ever clinical recommendation based on a person's entire genomic sequence. The output the researchers generated is unique in its easy-to-understand format and its inclusion of clinical risk factors.

The work will be published in the Lancet on April 30, and represents the first time researchers have translated the billions base pairs of an individual's DNA into practical advice for a healthy patient:

"The $1,000 genome is coming fast," said Ashley, an assistant professor of medicine, referring to the cost of sequencing all of an individual's DNA. "The challenge lies in knowing what to do with all that information. We've focused on establishing priorities that will be most helpful when a patient and a physician are sitting together looking at the computer screen."

Priorities that include whether a certain medication is likely to work for that particular patient, or if it's likely to have adverse side effects. Priorities that include ascertaining how a patient's obesity or smoking combine with his or her inherent genetic risk for - or protection against - heart attack or diabetes. In short, priorities that result in concrete clinical recommendations for patients based on a degree of data that has never existed before.

Only about 12 people in the world have had their complete genome sequenced. Quake is one of them. He made headlines last August when he announced that he'd achieved the feat for less than $50,000 with technology he'd helped invent. Shortly after that, he and his colleagues realized that they had an extremely rare resource at their disposal:

"We're at the dawn of a new age in genomics," said Quake, who is the Lee Otterson Professor of Bioengineering. "Information like this will enable doctors to deliver personalized health care like never before. Patients at risk for certain diseases will be able to receive closer monitoring and more frequent testing, while those who are at lower risk will be spared unnecessary tests. This will have important economic benefits as well, because it improves the efficiency of medicine."

Previously: Stephen Quake has decoded his own genome and Stephen Quake talks about decoding his genome

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