Routine DNA Sequencing May Be Helpful And Not As Scary As Feared – NPR

 In Health

Whole genome sequencing could become part of routine medical care. Researchers sought to find out how primary care doctors and patients would handle the results.

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Whole genome sequencing could become part of routine medical care. Researchers sought to find out how primary care doctors and patients would handle the results.

Cultura RM Exclusive/GIPhotoStock/Getty Images/Cultura Exclusive

Advances in technology have made it much easier, faster and less expensive to do whole genome sequencing — to spell out all three billion letters in a person’s genetic code. Falling costs have given rise to speculation that it could soon become a routine part of medical care, perhaps as routine as checking your blood pressure.

But will such tests, which can be done for as little as $1,000, prove useful, or needlessly scary?

The first closely-controlled study aimed at answering that question suggests that doctors and their patients can handle the flood of information the tests would produce. The study was published Monday in Annals of Internal Medicine.

“We can actually do genome sequencing in normal, healthy individuals without adverse consequences — and actually with identification of some important findings,” says Teri Manolio, director of the division of genomic medicine at the National Human Genome Institute, which funded the study. Manolio wrote an editorial accompanying the paper.

“There’s a lot of excitement and a lot of hope about this new technology and how it’s going to revolutionize medicine,” says Jason Vassy, a researcher at the VA Boston Healthcare System and the Brigham and Women’s Hospital, who led the study. “But at the same time, there are a lot of fears and a lot of concerns.”

Vassy acknowledges that routine genome sequencing could overwhelm doctors and patients with confusing and sometimes alarming information, leading to anxiety and stress, as well as expensive and sometimes dangerous follow-up testing.

So he and his colleagues sought to find out what routine testing would look like in a general medicine setting. They studied 100 healthy, middle-aged patients whose primary care physicians randomly asked them if they were interested in having their genomes sequenced.

Half of the volunteers had their DNA scanned for genetic variations that could cause nearly 5,000 rare genetic diseases as well as other genetic markers. The other half answered questions about diseases that ran in their families — the traditional way of spotting inherited risks.

One of the volunteers was Renee Duchainey-Farkes, 63, who runs an elementary school in Boston.

“I’d always been kind of fascinated by genome studies,” Duchainey-Farkes says. “So I was more than excited, but at the same time now nervous because it was like, ‘Well, do I really want to know if things aren’t great?'”

Among the 50 volunteers who got sequenced, the researchers found that about 1 in 5 had a variant in their genome that was associated with a rare, sometimes serious genetic disease.

“That was higher than we expected to find,” Vassy says. “These were generally healthy middle-aged adults who had gone their entire life and didn’t think they had any genetic diseases.”

Most of them were fine, but what happened next surprised the researchers: Neither the volunteers nor their doctors overreacted.

“We were pleasantly surprised to see that primary care physicians were able to manage their patients’ genetic results appropriately,” Vassy says. “And patients are generally able to handle this information. It does not cause an increase in anxiety or an increase in depression.”

Many of the patients also received useful information, the researchers reported.

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