Whole Genome Scans Aren't Quite Ready For Your Doctor's Office

Posted: March 11, 2014 at 5:43 pm

hide captionInterpreting the results from a genome scan takes a lot of people time. And the databases used to interpret the results aren't infallible.

Interpreting the results from a genome scan takes a lot of people time. And the databases used to interpret the results aren't infallible.

For more than a decade scientists have been saying that a genomic revolution will transform medicine, making it possible to scan all of a person's DNA to predict risk and customize medical care.

Well, we've got the machines. Where's the revolution?

Getting closer, say researchers at Stanford University, who tested the technology on 12 people. But not quite ready for every doctor's office.

""We were witness to the birth of this idea, and now we feel like we have an unruly teenager on our hands," says Dr. Euan Ashley, an associate professor of medicine and genetics at Stanford, and an author of the study. "It's going to take some tough love."

The study was published Tuesday in JAMA, the journal of the American Medical Association.

Whole-genome scanning uses machines to plow through all of a person's DNA looking for variations that could be associated with disease. Though until now it's been used rarely for diagnosing patients, it's becoming increasingly fast and affordable. Machines are now able to run a whole-genome scan in a day or two, at a cost of just a few thousand dollars.

Quick and affordable, maybe, but not necessarily accurate.

When the Stanford researchers compared whole-genome scans done on two different machines, they found that the results matched up just one-third of the time for genetic variants that could signal a risk of inherited disease.

Excerpt from:
Whole Genome Scans Aren't Quite Ready For Your Doctor's Office

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