
Stanford researchers for the first time used a healthy person’s complete genome sequence to predict risk for dozens of diseases
On Apr. 29, 2010, Stanford University of researchers announced they had have used a healthy person’s complete genome sequence to predict his risk for dozens of diseases and how he will respond to several common medications.
The risk analysis, from Stanford’s School of Medicine, also incorporated more-traditional information such as a patient’s age and gender and other clinical measurements. The resulting, easy-to-use, cumulative risk report brought the use of such data out of the lab and into the waiting room of average physicians within the next decade.
“The $1,000 genome is coming fast,” said cardiologist Euan Ashley, MD, 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.
That evolving knowledge base will present a particular challenge, the researchers believe. Keeping people up-to-date on new findings involving genetic variants that they carry will be a tricky business. Clinicians of the future will walk a tightrope of informing people who’ve opted to have their genome sequenced of ongoing discoveries while also presenting the information as uncertain and likely to change. Furthermore, how shall we deal with the fact that a patient’s genome by definition harbors information about that person’s parents, children and other relatives who may not want to peek into their shared genomic crystal ball? Clearly we have much with which to grapple.
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Source: Stanford Medicine
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