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, BYLINE¹: It's gotten way easier and way cheaper to scan someone's entire genetic² 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-aged³ 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 variant⁴ 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 weird⁵ 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 prone⁶ to diabetes⁷. 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 adverse⁸ 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, Chapel⁹ 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 premature¹⁰ and would likely lead to a lot more mischief¹¹ 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 DNA¹². Rob Stein, NPR News.

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

1 byline   

n.署名；v.署名

参考例句：

• His byline was absent as well.他的署名也不见了。
• We wish to thank the author of this article which carries no byline.我们要感谢这篇文章的那位没有署名的作者。

2 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

3 middle-aged   

adj.中年的

参考例句：

• I noticed two middle-aged passengers.我注意到两个中年乘客。
• The new skin balm was welcome by middle-aged women.这种新护肤香膏受到了中年妇女的欢迎。

4 variant   

adj.不同的，变异的；n.变体，异体

参考例句：

• We give professional suggestions according to variant tanning stages for each customer.我们针对每位顾客不同的日晒阶段，提供强度适合的晒黑建议。
• In a variant of this approach,the tests are data- driven.这个方法的一个变种，是数据驱动的测试。

5 weird   

adj.古怪的，离奇的；怪诞的，神秘而可怕的

参考例句：

• From his weird behaviour,he seems a bit of an oddity.从他不寻常的行为看来，他好像有点怪。
• His weird clothes really gas me.他的怪衣裳简直笑死人。

6 prone   

adj.(to)易于…的，很可能…的；俯卧的

参考例句：

• Some people are prone to jump to hasty conclusions.有些人往往作出轻率的结论。
• He is prone to lose his temper when people disagree with him.人家一不同意他的意见,他就发脾气。

7 diabetes   

n.糖尿病

参考例句：

• In case of diabetes, physicians advise against the use of sugar.对于糖尿病患者，医生告诫他们不要吃糖。
• Diabetes is caused by a fault in the insulin production of the body.糖尿病是由体內胰岛素分泌失调引起的。

8 adverse   

adj.不利的；有害的；敌对的，不友好的

参考例句：

• He is adverse to going abroad.他反对出国。
• The improper use of medicine could lead to severe adverse reactions.用药不当会产生严重的不良反应。

9 chapel   

n.小教堂，殡仪馆

参考例句：

• The nimble hero,skipped into a chapel that stood near.敏捷的英雄跳进近旁的一座小教堂里。
• She was on the peak that Sunday afternoon when she played in chapel.那个星期天的下午，她在小教堂的演出，可以说是登峰造极。

10 premature   

adj.比预期时间早的；不成熟的，仓促的

参考例句：

• It is yet premature to predict the possible outcome of the dialogue.预言这次对话可能有什么结果为时尚早。
• The premature baby is doing well.那个早产的婴儿很健康。

11 mischief   

n.损害，伤害，危害；恶作剧，捣蛋，胡闹

参考例句：

• Nobody took notice of the mischief of the matter. 没有人注意到这件事情所带来的危害。
• He seems to intend mischief.看来他想捣蛋。

12 DNA   

(缩)deoxyribonucleic acid 脱氧核糖核酸

参考例句：

• DNA is stored in the nucleus of a cell.脱氧核糖核酸储存于细胞的细胞核里。
• Gene mutations are alterations in the DNA code.基因突变是指DNA密码的改变。