美国国家公共电台 NPR Prenatal Testing Can Ease Minds Or Heighten Anxieties

 

DAVID GREENE, HOST:

So one of the fastest growing markets for genetic² testing is for future parents who want to know their risk of passing something onto their child. But more genetic information does not always make decisions easier and can result in more worry. Lesley McClurg from member station KQED explains.

LESLEY MCCLURG, BYLINE³: Myriad⁴ Genetics is one of about a dozen labs vying⁵ for the business of concerned future parents.

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UNIDENTIFIED PERSON: The foresight⁶ carrier screen can detect over 100 health conditions that can be passed unknowingly from parent to child.

MCCLURG: Finding out whether parents could pass along a few serious diseases isn't new - that's been happening for the last few decades. What's new is screening parents for hundreds of very rare conditions. It's called expanded carrier screening. If you take Myriad's test, your sample is sent to a lab in South San Francisco, where Gifty Hammond showed me around.

GIFTY HAMMOND: This is a robot that takes the blood and saliva⁷ and separates out its DNA⁸.

MCCLURG: Then robots will sequence the genetic code, scanning for irregularities. Even healthy parents can sometimes pass a disease onto their child if they both carry a mutated version of the same gene¹. Shara Watkins worried this could be the case for her. She was three months pregnant, and there's a history of disease in her family. Her mom has lupus, and her half-brother has cystic fibrosis. Plus...

SHARA WATKINS: I had a high-risk pregnancy⁹, and there had been a lot of complications prior to this, and so I wanted to know everything because I was anxious about everything.

MCCLURG: Shara's doctor prescribed an expanded carrier screening from another Bay Area company called Natera. Shara learned she was a carrier for spinal¹⁰ muscular atrophy¹¹. So her husband Robert also took the test, and then they got a startling email from their doctor.

S WATKINS: Robert has also tested positive for this. I'm not exactly sure what it means. You should see a genetic counselor¹² immediately.

MCCLURG: The couple hadn't discussed what they would do if their baby was at risk for spinal muscular atrophy.

S WATKINS: So I called Rob in pure hysterics.

ROBERT WATKINS: When I got the call in my office, she was crying. We were both kind of in a panic mode immediately.

MCCLURG: So they booked an appointment in the genetics counseling office at Stanford University.

MEG HOMEYER: So this is the actual report.

MCCLURG: Meg Homeyer was part of the counseling team. Seeking outside expertise¹³ is a crucial step for many parents to put test results in context because, as it turns out, Shara, Rob and their doctor thought their risk was a lot higher than it was.

HOMEYER: They came to us with this information, not knowing what it meant, what the risks were and not understanding the implications.

MCCLURG: So they thought it was 1 in 4. What was it actually?

HOMEYER: It was much lower. I think it was 1 in 3,500.

MCCLURG: But even though Rob and Shara's worst fears were wrong, they still lost sleep at night wondering if their child could be the 1 in 3,500. To know for sure, they would have had to do more diagnostic testing, which could put the pregnancy at risk. Homeyer says she sees many parents agonize¹⁴ over emotional decisions based on abstract numbers.

HOMEYER: They will not have that answer, potentially until that baby's here, and in the meantime, they're in this gray area where they're trying not to worry, but they can't help it.

MCCLURG: And so is it valuable, do you think, for folks to have this information?

HOMEYER: It depends on the family, and I think that's the hard part, is that there's the family that will want every possible test available. They'll want no stone unturned because their tolerance¹⁵ for risk is low. There are other families where this information in pregnancy isn't useful for them.

MCCLURG: Like families who wouldn't terminate a pregnancy, regardless of the results. And Homeyer stresses that parents remember.

HOMEYER: The sheer numbers are that 96, 97 percent of the time, a baby is born healthy.

MCCLURG: That was the case for Shara's little girl, a healthy five-month-old.

So looking back, if you could, like, rewind all the way back, would you do a career screening again?

S WATKINS: I think so. I think so, yeah.

MCCLURG: In the end, she says the anxiety she dealt with was better than not knowing anything at all. Her advice to future parents is to really think about whether more information will, for them, be reassuring¹⁶ or just another thing to worry about. For NPR News, I'm Lesley McClurg.

(SOUNDBITE OF LYMBYC SYSTYM'S "DETACHED OBJECTS")

1 gene   

n.遗传因子，基因

参考例句：

• A single gene may have many effects.单一基因可能具有很多种效应。
• The targeting of gene therapy has been paid close attention.其中基因治疗的靶向性是值得密切关注的问题之一。

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 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。

4 myriad   

adj.无数的；n.无数，极大数量

参考例句：

• They offered no solution for all our myriad problems.对于我们数不清的问题他们束手无策。
• I had three weeks to make a myriad of arrangements.我花了三个星期做大量准备工作。

5 vying   

adj.竞争的；比赛的

参考例句：

• California is vying with other states to capture a piece of the growing communications market.为了在日渐扩大的通讯市场分得一杯羹，加利福尼亚正在和其他州展开竞争。
• Four rescue plans are vying to save the zoo.4个拯救动物园的方案正争得不可开交。

6 foresight   

n.先见之明，深谋远虑

参考例句：

• The failure is the result of our lack of foresight.这次失败是由于我们缺乏远虑而造成的。
• It required a statesman's foresight and sagacity to make the decision.作出这个决定需要政治家的远见卓识。

7 saliva   

n.唾液，口水

参考例句：

• He wiped a dribble of saliva from his chin.他擦掉了下巴上的几滴口水。
• Saliva dribbled from the baby's mouth.唾液从婴儿的嘴里流了出来。

8 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。

9 pregnancy   

n.怀孕，怀孕期

参考例句：

• Early pregnancy is often accompanied by nausea.怀孕早期常有恶心的现象。
• Smoking during pregnancy increases the risk of miscarriage.怀孕期吸烟会增加流产的危险。

10 spinal   

adj.针的，尖刺的，尖刺状突起的；adj.脊骨的，脊髓的

参考例句：

• After three days in Japan,the spinal column becomes extraordinarily flexible.在日本三天，就已经使脊椎骨变得富有弹性了。
• Your spinal column is made up of 24 movable vertebrae.你的脊柱由24个活动的脊椎骨构成。

11 atrophy   

n./v.萎缩，虚脱，衰退

参考例句：

• Patients exercised their atrophied limbs in the swimming pool.病人们在泳池里锻炼萎缩的四肢。
• Many hoped he would renew the country's atrophied political system.很多人都期望他能使该国萎靡的政治体系振作起来。

12 counselor   

n.顾问，法律顾问

参考例句：

• The counselor gave us some disinterested advice.顾问给了我们一些无私的忠告。
• Chinese commercial counselor's office in foreign countries.中国驻国外商务参赞处。

13 expertise   

n.专门知识(或技能等)，专长

参考例句：

• We were amazed at his expertise on the ski slopes.他斜坡滑雪的技能使我们赞叹不已。
• You really have the technical expertise in a new breakthrough.让你真正在专业技术上有一个全新的突破。

14 agonize   

v.使受苦，使苦闷

参考例句：

• Why do you agonize yourself with the thought of your failure?你为何总是对于你的失败念念不忘而自我折磨呢？
• There's no reason to agonize over telling people you're job hunting.没有理由为告诉他人你正在找工作而感到苦恼。

15 tolerance   

n.宽容；容忍，忍受；耐药力；公差

参考例句：

• Tolerance is one of his strengths.宽容是他的一个优点。
• Human beings have limited tolerance of noise.人类对噪音的忍耐力有限。

16 reassuring   

a.使人消除恐惧和疑虑的，使人放心的

参考例句：

• He gave her a reassuring pat on the shoulder. 他轻拍了一下她的肩膀让她放心。
• With a reassuring pat on her arm, he left. 他鼓励地拍了拍她的手臂就离开了。