Could genome sequencing become routine at doctor's offices?

Posted: March 12, 2014 at 9:43 pm

CHICAGO -- These days, it's faster and cheaper than ever to decipher a person's entire DNA. But a small study suggests that looking for disease risks that way may not be ready for the masses.

For one thing, the research found that gene variants most likely linked with significant disease were the least likely to be accurately identified.

And analyzing the mass of data from the DNA scan is a daunting task, researchers said.

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Stanford University researchers performed whole genome sequencing in 12 healthy people. Most of the millions of genetic variants they found were of uncertain significance, although one woman was found to have a high genetic risk for cancer.

DNA is recovered by a simple blood test and deciphered by machines. The difficulty lies in interpreting the findings and figuring out which variants are important and which ones can be ignored. That takes days of sophisticated follow-up lab tests and interpretation to reveal potentially meaningful genetic information, the researchers said.

Dr. Euan Ashley, a senior co-author and Stanford associate professor of medicine and genetics, likened the technology to "an unruly teenager who has grown up very fast. There's huge potential."

"This paper is like parental tough love -- we have to be really honest about where we are in order to bring it up to clinical standards," he said.

For the test, they used two commercially available instruments to sequence the DNA - the second one to validate the initial findings. But less than one-third of variants in inherited disease genes were confirmed.

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Could genome sequencing become routine at doctor's offices?

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