美国国家公共电台 NPR Results Of At-Home Genetic Tests For Health Can Be Hard To Interpret

 

RACHEL MARTIN, HOST:

It's gotten way easier for people to get their DNA¹ tested for health reasons. Nowadays people can get their genes² scrutinized³ to determine whether they are carrying genetic⁴ diseases they could pass on to their kids or whether they're at risk for serious health problems like Alzheimer's or cancer. Joining us now to talk about the pros⁵ and cons⁶ of this is NPR health correspondent Rob Stein. Hi, Rob.

ROB STEIN, BYLINE⁷: Hey, Rachel.

MARTIN: So this could obviously be a really amazing thing or a terrifying thing. Can you just start off by explaining what is wrong and what is right about making it easier for us to get this kind of information?

STEIN: Yeah. So people can get some really helpful important information through genetic testing. But this can be life-changing information sometimes, you know? Is it safe to have kids? Are they at risk for developing some terrible disease? So that raises all kinds of questions, you know, about privacy, about whether people should be getting this kind of information from a company or should they be getting it from a doctor or a genetic counselor⁸?

MARTIN: Right. And how easy is it, actually, to get this done?

STEIN: So the company that's most aggressive out there is a company called 23andMe. And I should mention 23andMe provides some financial support for NPR. And this California company was the first company to get approval from the FDA to market a test that tells people whether they're at risk for cancer without a doctor being involved at all. And that's a huge change. And, specifically, it's a test that tells people whether they're at risk for breast cancer. So I decided⁹ to follow several women through the testing process. And I'd like to tell you the story about one of them. Her name is Rita Adele Steyn. She's 42. Originally from South Africa, she now lives in Tampa, Fla. And I called her on Skype.

(SOUNDBITE OF SKYPE CALL CONNECTING)

RITA ADELE STEYN: Hello?

STEIN: Hi. It's Rob Stein at NPR.

STEYN: Hi, Rob. How are you?

STEIN: I'm great. How are you?

STEYN: I'm alright, thank you.

STEIN: Well, it turns out Steyn just got back from helping¹⁰ take care of her sister in Ohio. She's going through chemo for breast cancer.

So sorry to hear that.

STEYN: Yeah. It's been tough, but it's harder for her.

STEIN: Breast cancer runs in Steyn's family. Her mom had a double mastectomy in her 40s because she had so many lumps in her breasts, and her first cousin died of breast cancer. So after her sister was diagnosed, Steyn got really worried she might be next.

STEYN: I think everyone naturally is always in two minds. Sometimes you feel like you beat the odds¹¹, and sometimes you feel like the odds are against you. And right now I feel like the odds are against me.

STEIN: So when she heard about 23andMe's new genetic test, she decided to order it. She agreed to call me back when her kit¹² showed up in the mail.

STEYN: The whole thing is in plastic so I'm just trying to open it here. Take the plastic off. OK.

STEIN: She pulled out a small plastic tube and followed the instructions to fill it with spit. That's where the company gets the DNA to analyze¹³.

STEYN: I think the main thing is just not to get your sample mixed up with anyone else's. (Laughter).

STEIN: Right. Don't let anybody else spit in your tube.

STEYN: Right. Right. Don't let my dog lick me before I spit in the tube. Let's see how much we get on our first go. Here. I'll spit. This is a lot of spit.

STEIN: She finally managed to fill up the tube and snap the lid closed to send it back. I didn't hear from Steyn again until about a month later, when the results were finally ready. She agreed to wait to open them until I was back on the line.

(SOUNDBITE OF SKYPE CALL CONNECTING)

STEIN: Hi. How are you?

STEYN: Hi. I'm fine, thanks. Nice to talk to you again.

STEIN: Are you nervous?

STEYN: Yeah. Yeah, I'm really nervous. So I'm quite - yeah. I'm a bit nervous. I'm a bit nervous.

STEIN: Steyn read through an explanation of what the test does and doesn't mean. It's only looking for three variants¹⁴ in the so-called breast cancer genes, BRCA1 and BRCA2. They sharply increase the risk for breast and ovarian cancer.

STEYN: All right. Well, shall we?

STEIN: Whenever you're ready. Are you ready?

STEYN: I think - I think I'm ready. (Laughter).

STEIN: OK.

STEYN: I think I'm ready. OK. I'm going to click on it. Rob, you're in it with me here.

STEIN: After what felt like a very long pause...

STEYN: It says zero variance¹⁵ detected.

STEIN: Wow. So what do you think?

STEYN: I guess I feel really relieved. (Laughter). It does make me feel better. Yeah. I don't know. I guess I just feel like my chances are better now. (Laughter). You know?

STEIN: So, Rachel, you can clearly hear the relief in this woman's voice.

MARTIN: Right. So is there a problem with this, Rob?

STEIN: So the critics say the problem is that this test only looks for three mutations in the two so-called breast cancer genes, and these mutations are only common among Jewish women of Eastern European descent, and there are literally¹⁶ thousands of other mutations that can increase the risk for breast and ovarian cancer. Or, women could get breast cancer for some other reason. And the worry is that women who test negative on those tests might not do the things they should do like get regular mammograms or seek out more thorough genetic testing.

MARTIN: Because they think they're fine.

STEIN: They think they're fine, and then they could end up, you know, dying of cancer when they could have otherwise been saved.

MARTIN: What does the company say about these criticisms?

STEIN: So the company says it makes the test limitations crystal clear and encourages women to get advice from their doctor, or particularly from genetic counselors¹⁷, and that this test can at least provide some women with some potentially useful information. And I should say the three women that I followed did all seem to get this, but Steyn also acknowledged that she felt a little less urgency to get a mammogram and to get additional testing because her test came back OK.

MARTIN: We should note also it's not just 23andMe doing this sort of thing, right?

STEIN: Yeah. There are lots of other companies out there marketing¹⁸ these easy, in-home tests directly to consumers. Now, all the other companies officially have to get a doctor involved. But the companies, they'll find the doctor for customers and critics say that's a concern, too, because these doctors could have a conflict of interest and that you really should sit down with your own doctor from the get go, figure out what tests you should get and have them there to explain these results, which can be confusing, to make sure you understand what they mean.

MARTIN: I imagine there are privacy concerns, too?

STEIN: The companies all say they keep their information private, but we know these days electronic information can leak out in all sorts of ways, and people could be subject to discrimination for life insurance or long-term care insurance.

MARTIN: NPR health correspondent Rob Stein. Fascinating story, Rob. Thank you so much.

STEIN: Sure. Nice to be here.

1 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。

2 genes   

n.基因( gene的名词复数 )

参考例句：

• You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因，所以能够活得很长。 来自《简明英汉词典》
• Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪

3 scrutinized   

v.仔细检查，详审( scrutinize的过去式和过去分词 )

参考例句：

• The jeweler scrutinized the diamond for flaws. 宝石商人仔细察看钻石有无瑕庇 来自《现代英汉综合大词典》
• Together we scrutinized the twelve lemon cakes from the delicatessen shop. 我们一起把甜食店里买来的十二块柠檬蛋糕细细打量了一番。 来自英汉文学 - 盖茨比

4 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。

5 pros   

abbr.prosecuting 起诉；prosecutor 起诉人；professionals 自由职业者；proscenium （舞台）前部n.赞成的意见( pro的名词复数 )；赞成的理由；抵偿物；交换物

参考例句：

• The pros and cons cancel out. 正反两种意见抵消。 来自《现代英汉综合大词典》
• We should hear all the pros and cons of the matter before we make a decision. 我们在对这事做出决定之前，应该先听取正反两方面的意见。 来自《简明英汉词典》

6 cons   

n.欺骗，骗局( con的名词复数 )v.诈骗，哄骗( con的第三人称单数 )

参考例句：

• The pros and cons cancel out. 正反两种意见抵消。 来自《现代英汉综合大词典》
• We should hear all the pros and cons of the matter before we make a decision. 我们在对这事做出决定之前，应该先听取正反两方面的意见。 来自《简明英汉词典》

7 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。

8 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。

9 decided   

adj.决定了的，坚决的；明显的，明确的

参考例句：

• This gave them a decided advantage over their opponents.这使他们比对手具有明显的优势。
• There is a decided difference between British and Chinese way of greeting.英国人和中国人打招呼的方式有很明显的区别。

10 helping   

n.食物的一份&adj.帮助人的，辅助的

参考例句：

• The poor children regularly pony up for a second helping of my hamburger. 那些可怜的孩子们总是要求我把我的汉堡包再给他们一份。
• By doing this, they may at times be helping to restore competition. 这样一来, 他在某些时候,有助于竞争的加强。

11 odds   

n.让步，机率，可能性，比率；胜败优劣之别

参考例句：

• The odds are 5 to 1 that she will win.她获胜的机会是五比一。
• Do you know the odds of winning the lottery once?你知道赢得一次彩票的几率多大吗？

12 kit   

n.用具包，成套工具；随身携带物

参考例句：

• The kit consisted of about twenty cosmetic items.整套工具包括大约20种化妆用品。
• The captain wants to inspect your kit.船长想检查你的行装。

13 analyze   

vt.分析，解析 (=analyse)

参考例句：

• We should analyze the cause and effect of this event.我们应该分析这场事变的因果。
• The teacher tried to analyze the cause of our failure.老师设法分析我们失败的原因。

14 variants   

n.变体( variant的名词复数 )；变种；变型；（词等的）变体

参考例句：

• Those variants will be preserved in the'struggle for existence". 这些变异将在“生存竞争”中被保留下来。 来自辞典例句
• Like organisms, viruses have variants, generally called strains. 与其他生物一样，病毒也有变种，一般称之为株系。 来自辞典例句

15 variance   

n.矛盾，不同

参考例句：

• The question of woman suffrage sets them at variance. 妇女参政的问题使他们发生争执。
• It is unnatural for brothers to be at variance. 兄弟之间不睦是不近人情的。

16 literally   

adv.照字面意义，逐字地；确实

参考例句：

• He translated the passage literally.他逐字逐句地翻译这段文字。
• Sometimes she would not sit down till she was literally faint.有时候，她不走到真正要昏厥了，决不肯坐下来。

17 counselors   

n.顾问( counselor的名词复数 )；律师；（使馆等的）参赞；（协助学生解决问题的）指导老师

参考例句：

• Counselors began an inquiry into industrial needs. 顾问们开始调查工业方面的需要。 来自《现代英汉综合大词典》
• We have experienced counselors available day and night. ) 这里有经验的法律顾问全天候值班。） 来自超越目标英语 第4册

18 marketing   

n.行销，在市场的买卖，买东西

参考例句：

• They are developing marketing network.他们正在发展销售网络。
• He often goes marketing.他经常去市场做生意。