美国国家公共电台 NPR Routine DNA Sequencing May Be Helpful And Not As Scary As Feared

ARI SHAPIRO, HOST:

Now we're going to hear about some new research that takes on this question. Should scanning your genome be as routine as checking your blood pressure? Here's NPR health correspondent Rob Stein.

ROB STEIN, BYLINE 1: It's gotten way easier and way cheaper to scan someone's entire genetic 2 code. So Jason Vassy of the VA Boston Healthcare System says there's been a lot of talk about doctors doing it routinely.

JASON VASSY: There is a lot of excitement and a lot of hope about this new technology and how it's going to revolutionize medicine. But at the same time, there are a lot of fears, a lot of concerns.

STEIN: That it would flag stuff that would freak out doctors and their patients, causing lots of stress and anxiety and tons of expensive, maybe even dangerous follow-up tests for what would often turn out to be nothing.

VASSY: So we wanted to begin to start to address some of those hopes, some of those concerns. What might the risks and benefits of doing this in a general medicine setting look like?

STEIN: So Vassy launched the first carefully designed study to find out. He looked at 100 healthy middle-aged 3 patients who volunteered when their primary care doctors asked them if they wanted to get sequenced.

RENEE DUCHAINEY-FARKES: I've always been kind of fascinated by genome studies of what I'd known about them.

STEIN: Renee Duchainey-Farkes was one of the volunteers. She's 63 and runs an elementary school in Boston.

DUCHAINEY-FARKES: So I was more than excited but at the same time now nervous because, like, well, do I really want to know if things aren't great?

STEIN: And Vassy says what the researchers found surprised them.

VASSY: So of the 50 patients that got sequenced, we actually found that about 1 in 5 had a variant 4 in their genome that potentially was predicted to be associated with a disease. And so that was higher than we expected to find. These were generally healthy middle-aged adults who had gone their entire life and didn't think they had any genetic diseases.

STEIN: And most of them were fine. But what happened next also surprised the researchers. The patients and their doctors didn't overreact.

VASSY: We were pleasantly surprised, though, to see that primary care physicians were able to manage their patients' genetic results appropriately. And patients are generally able to handle this information. It does not cause an increase in anxiety or an increase in depression.

STEIN: And a lot of the volunteers actually got something out of getting their genome sequenced. Duchainey-Farkes discovered why she got weird 5 rashes and really bad sunburns. She had what so far was a very mild version of a rare skin disease, and now she knew what drugs to stay away from because they could make it worse.

DUCHAINEY-FARKES: So I feel that that was a really positive outcome.

STEIN: She also found out she may be prone 6 to diabetes 7. So she's...

DUCHAINEY-FARKES: Paying a little more attention now to just being aware that that could happen, which means watch your weight. Watch your sugar.

STEIN: So Teri Manolio of the National Human Genome Institute says the results are encouraging.

TERI MANOLIO: What it does is to show that we can actually do sequencing in normal healthy individuals without adverse 8 consequences and actually with identification of some important findings.

STEIN: But there's still skeptics. James Evans is a geneticist at the University of North Carolina, Chapel 9 Hill.

JAMES EVANS: There's a lot of, in my opinion, highly misplaced enthusiasm for doing genomic sequencing in the general population. And this study shows that its routine provision in that context is vastly premature 10 and would likely lead to a lot more mischief 11 than benefit.

STEIN: Because so many healthy people would find out things that sound scary but really are nothing to worry about. Mark Rothstein agrees. He's a bioethicist at the University of Louisville. People who get their genome sequenced, he says, might end up facing genetic discrimination.

MARK ROTHSTEIN: That information is accessible by third parties who can require access to it if you are applying for life insurance or disability insurance or long-term care or other things.

STEIN: But some private companies have already started selling genome sequencing to people who are really curious about what secrets may be hiding in their DNA 12. Rob Stein, NPR News.

(SOUNDBITE OF THE POLISH AMBASSADOR SONG, "TAKE WING")