美国国家公共电台 NPR Researchers Try A Genetic Diabetes Test To Prevent Emergency Hospitalizations

 

STEVE INSKEEP, HOST:

Almost half of all children who develop Type 1 diabetes¹ do not learn they even have the disease until they end up in the hospital. Researchers are exploring whether a genetic³ test can eliminate a lot of these emergencies, which is tricky⁴ because the test raises a lot of false alarms and misses a lot of cases. NPR science correspondent Richard Harris visited a research team in Charlottesville, Va., where they are trying out the test.

RICHARD HARRIS, BYLINE⁵: Sharon Twitty and her daughter Tierra are in the sun-filled waiting room of a health clinic at the University of Virginia when a man with a computer tablet politely approaches.

JORGE GONZALEZ: Good morning. So my name is Jorge Gonzalez I'm a clinical research study coordinator⁶ here at UVA, and we're conducting a genetic risk study for Type 1 diabetes.

HARRIS: Gonzalez explains that the study is recruiting kids to identify those at elevated risk for this condition. Sharon and her daughter quickly agree to take part.

GONZALEZ: Great. So if you can follow me. We're going to go to the very first room.

SHARON TWITTY: OK.

HARRIS: They head back behind the nursing station.

GONZALEZ: Are you familiar with consent forms?

S TWITTY: Yes.

HARRIS: Paperwork quickly out of the way, it's now 16-year-old Tierra's turn to provide a saliva⁷ sample for the study.

GONZALEZ: It helps to make a fishy⁸ face, like this. Bring the saliva right down to the middle.

TIERRA TWITTY: I have a gun in my mouth.

S TWITTY: Take it out.

HARRIS: Out it comes. Tierra is game to give a spit sample, but she says her mouth is too dry.

UNIDENTIFIED PERSON #1: Give it your best shot, girl.

GONZALEZ: You're doing great.

HARRIS: Gonzalez ultimately collects the spit on cotton swabs. It's all over in a few minutes.

UNIDENTIFIED PERSON #2: All right, you've done your bit for science. Congratulations.

(LAUGHTER)

HARRIS: So far, Gonzalez and his colleagues working in other clinics have collected about 2,000 spit samples. Those go to a lab where DNA⁹ is extracted for an unusual genetic test. Steve Rich, director of the UVA Center for Public Health Genomics, explains the strategy.

STEVE RICH: The risk of Type 1 diabetes is about half genetic and half unknown.

HARRIS: And unlike most genetic conditions, there's no single gene² responsible for that genetic risk. Over the years, scientists have discovered dozens of gene variations that each contribute a tiny amount to the risk. The test Rich developed costs only about $7. It looks at all those variants¹⁰ and together explains about 90% of the genetic risk. Most genetic tests of this type do far worse.

RICH: In a complex disease like Type 1 diabetes, we're probably unique in that we actually understand the vast majority of the genetic risk.

HARRIS: The question is what to do with that information.

RICH: It's an autoimmune disease. So there is no, exercise more. There is no, stop eating sugar. There is no, have a better diet - that we know that will actually affect things.

HARRIS: But what they can do for kids who have this genetic risk is run a blood test. Before symptoms kick in, children develop antibodies in the blood. Rich says parents and doctors can then use that information to make sure the first sign of trouble isn't a scary crash in blood sugar.

RICH: And since 40% of kids who get Type 1 diabetes go into this coma¹¹, we can prevent that by monitoring them carefully.

HARRIS: Out of the 2,000 kids tested in this study, about 60 turned out to carry this higher genetic risk. Charlottesville resident Jeri Seidman says her 12-year-old daughter Hannah is one of them.

JERI SEIDMAN: It was kind of stunning¹² to me. And I got the news in a week when she'd had some other issues. I think she fainted at school or something, and I was like, oh, my goodness.

HARRIS: The genetic test indicates that a child is at 10 times the risk of developing Type 1 diabetes. That may sound like a lot, but here's another way to frame it - the risk goes from 4 in a 1,000 to 4 in 100, a 4% risk. But Seidman says that still gives her valuable information.

SEIDMAN: I have a lot of friends who have kids with Type 1, and living with Type 1 is fine. But the development of Type 1, the initial diagnosis¹³ - my friends' children have been hospitalized for many days, and the initial diagnosis was incredibly scary.

HARRIS: If Hannah develops diabetes, she will probably avoid the emergency room because doctors can now watch her antibodies with periodic blood tests. Hannah already gets blood draws to monitor another health condition.

SEIDMAN: The only hesitation¹⁴ was Hannah hates to have her blood drawn¹⁵. She was like, I have to get my blood taken twice? And I said, no, I made sure they would do it all at the same time. And she was like, OK, because you know I was not going to do it if I had to do it twice. And I was like, I know. I know (laughter).

HARRIS: The hospital at the University of Virginia sees seven to 10 new cases of Type 1 diabetes a month, says David Repaske, the head of pediatric endocrinology. Parents often just think their child has a prolonged case of the flu, since the symptoms are similar. But sometimes parents who've had one child with Type 1 diabetes will recognize those same symptoms early on in a sibling¹⁶.

DAVID REPASKE: It's such a much better course of initiating¹⁷ therapy. And they stay out of the ICU; they even stay out of the hospital in most cases.

HARRIS: If the University of Virginia team can demonstrate the value of genetic screening in its current program, the next step will be to apply it to the entire state. Dr. Repaske has even bigger hopes.

REPASKE: We have the potential to include this screen on the newborn screen that every child in the country participates in. But then there's the ethical¹⁸ dilemma¹⁹. So what - how are people going to deal with this information?

HARRIS: The routine screening test for newborns provides yes or no answers, not simply a probability as the diabetes test does. Most kids with positive results won't get Type 1 diabetes, and half the kids who will do not show up on this test, since there are nongenetic risk factors. UVA pediatrician Julia Taylor says it's a challenge to explain all this to parents.

JULIA TAYLOR: So it is a lot of uncertainty²⁰ that you're trying to communicate. And the risk is not something that's easily grasped, I think, unless you're a numbers person or a statistician, which I'm not.

HARRIS: The ethical guidelines around genetic testing generally find that parents should at least have the opportunity to access information, provided they can also do something with it. That's been the experience of UVA genetic counselor²¹ Kitty Keating.

KITTY KEATING: Being told that your child's at increased risk for something and there's nothing you can do about it, can feel very overwhelming or give you more anxiety. But knowing that there is something we can do to monitor it, even if their child is likely to never develop it, I think that gives parents some relief or a little bit more control.

HARRIS: They'll learn more about that as their pilot test continues.

Richard Harris, NPR News.

(SOUNDBITE OF GEOTIC'S "ACTUALLY SMILING")

1 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。

2 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。

3 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。

4 tricky   

adj.狡猾的，奸诈的；(工作等)棘手的，微妙的

参考例句：

• I'm in a rather tricky position.Can you help me out?我的处境很棘手，你能帮我吗？
• He avoided this tricky question and talked in generalities.他回避了这个非常微妙的问题，只做了个笼统的表述。

5 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。

6 coordinator   

n.协调人

参考例句：

• The UN Office for the Coordination of Humanitarian Affairs, headed by the Emergency Relief Coordinator, coordinates all UN emergency relief. 联合国人道主义事务协调厅在紧急救济协调员领导下，负责协调联合国的所有紧急救济工作。
• How am I supposed to find the client-relations coordinator? 我怎么才能找到客户关系协调员的办公室？

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 fishy   

adj. 值得怀疑的

参考例句：

• It all sounds very fishy to me.所有这些在我听起来都很可疑。
• There was definitely something fishy going on.肯定当时有可疑的事情在进行中。

9 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。

10 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

11 coma   

n.昏迷，昏迷状态

参考例句：

• The patient rallied from the coma.病人从昏迷中苏醒过来。
• She went into a coma after swallowing a whole bottle of sleeping pills.她吃了一整瓶安眠药后就昏迷过去了。

12 stunning   

adj.极好的；使人晕倒的

参考例句：

• His plays are distinguished only by their stunning mediocrity.他的戏剧与众不同之处就是平凡得出奇。
• The finished effect was absolutely stunning.完工后的效果非常美。

13 diagnosis   

n.诊断，诊断结果，调查分析，判断

参考例句：

• His symptoms gave no obvious pointer to a possible diagnosis.他的症状无法作出明确的诊断。
• The engineer made a complete diagnosis of the bridge's collapse.工程师对桥的倒塌做一次彻底的调查分析。

14 hesitation   

n.犹豫，踌躇

参考例句：

• After a long hesitation, he told the truth at last.踌躇了半天，他终于直说了。
• There was a certain hesitation in her manner.她的态度有些犹豫不决。

15 drawn   

v.拖，拉，拔出；adj.憔悴的，紧张的

参考例句：

• All the characters in the story are drawn from life.故事中的所有人物都取材于生活。
• Her gaze was drawn irresistibly to the scene outside.她的目光禁不住被外面的风景所吸引。

16 sibling   

n.同胞手足(指兄、弟、姐或妹)

参考例句：

• Many of us hate living in the shadows of a more successful sibling.我们很多人都讨厌活在更为成功的手足的阴影下。
• Sibling ravalry has been common in this family.这个家里，兄弟姊妹之间的矛盾很平常。

17 initiating   

v.开始( initiate的现在分词 )；传授；发起；接纳新成员

参考例句：

• He is good at initiating projects but rarely follows through with anything. 他善于创建项目，但难得坚持完成。 来自《简明英汉词典》
• Only the perchlorate shows marked sensitiveness and possibly initiating properties. 只有高氯酸盐表现有显著的感度和可能具有起爆性能。 来自辞典例句

18 ethical   

adj.伦理的，道德的，合乎道德的

参考例句：

• It is necessary to get the youth to have a high ethical concept.必须使青年具有高度的道德观念。
• It was a debate which aroused fervent ethical arguments.那是一场引发强烈的伦理道德争论的辩论。

19 dilemma   

n.困境，进退两难的局面

参考例句：

• I am on the horns of a dilemma about the matter.这件事使我进退两难。
• He was thrown into a dilemma.他陷入困境。

20 uncertainty   

n.易变，靠不住，不确知，不确定的事物

参考例句：

• Her comments will add to the uncertainty of the situation.她的批评将会使局势更加不稳定。
• After six weeks of uncertainty,the strain was beginning to take its toll.6个星期的忐忑不安后，压力开始产生影响了。

21 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。