VOA健康报道2023--Study: Whole Genome Testing Finds Diseases Better in Children

Study: Whole Genome Testing Finds Diseases Better in Children

Brynn Schulte nearly died two times when she was a baby. At one point she needed emergency surgery for bleeding in her brain.

No one knew what was wrong. Then, a test that looked at her full genetic¹ details found a rare bleeding disorder². Catching³ the disorder early saved her life.

"You have this hopeless feeling when you don't really know what's going on," said her father, Mike Schulte. He noted⁴ that the test made a difference in finding the cause and "getting her the right care that she needed almost immediately."

Brynn, now 4, got the genetic testing as part of a clinical trial. The results of which were published recently in The Journal of the American Medical Association.

Testing all of the details of a person's genes⁵ is called "whole genome" testing. Whole genome tests are much better than narrowly targeted tests when it comes to finding genetic differences, called abnormalities, that can cause disease.

The study found 49 percent of these abnormalities, compared to 27 percent with more commonly used tests targeting only some genetic diseases.

Whole genome tests could solve the problem of doing several narrowly targeted tests on babies, which still might not find the disorder. Experts warn there are some problems because labs vary in how they understand results. Also, whole genome tests are costlier⁶ and less likely to be covered by insurance.

But researchers hope that whole genome tests will at some point be used for millions of hospitalized babies with rare and difficult conditions. The U.S. National Human Genome Research Institute has found that around 350 million people around the world live with rare disorders⁷. And it found that about 80 percent of the more than 7,000 conditions are genetic.

"I've been doing clinical trials of babies for over 40 years," said study writer Dr. Jon Davis, chief of newborn medicine at Tufts Medical Center in Boston. "It's not often that you can do something that you feel is going to really change the world and change clinical practice for everyone."

No one was sure about Brynn's condition

The night Brynn was born, she had difficulty breathing. There was also some bleeding in her brain. So, doctors gave her blood transfusions⁹ and tests for different bleeding problems. When Brynn was a month old, she had surgery after a huge brain bleed.

Her mother Lindsay Schulte said no one was sure about her condition. "I don't think we slept. I mean, watching your child nearly die in front of your eyes twice is a memory I'll never erase¹⁰," she said.

Then the Schulte family learned about the clinical trial. Brynn and both parents got the whole genome testing. The results came in less than a week later: She had a rare bleeding disorder. It affects an estimated 1 in 2 million to 1 in 3 million live births. She also had another condition that caused a severe reaction to some drugs.

Doctors said the correct results would likely have taken more time or even missed with several narrow, targeted tests.

That is because targeted tests cover maybe 1,700 out of 20,000 genes. But whole genome testing "captures more things," said Dr. Paul Kruszka of GeneDx. It is a company that provides whole genome testing but was not involved in the study.

Dr. Jill Maron is a study writer and a chief of children's medicine at Women & Infants Hospital in Rhode Island. She said full genome tests generally cost about three times more than narrow tests and are not covered by public insurance in most U.S. states.

Experts like her say that greater access to full genome tests is necessary if more children are going to be helped.

Words in This Story

surgery – n. medical treatment in which a doctor cuts into someone's body in order to repair or remove damaged or diseased parts

clinical – adj. relating to or based on work done with real patients: of or relating to the medical treatment that is given to patients in hospitals or clinics

insurance – n. an agreement in which a person makes regular payments to a company and the company promises to pay money if the person is injured or dies, or to pay money equal to the value of something (such as a house or car) if it is damaged, lost, or stolen

transfusion⁸ – n. a medical treatment in which someone's blood is put into the body of another person

twice – adv. two times

erase – v. to remove any thought or memory of (something)

access – n. a way of being able to use or get something

1 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。

2 disorder   

n.紊乱，混乱；骚动，骚乱；疾病，失调

参考例句：

• When returning back,he discovered the room to be in disorder.回家后，他发现屋子里乱七八糟。
• It contained a vast number of letters in great disorder.里面七零八落地装着许多信件。

3 catching   

adj.易传染的，有魅力的，迷人的，接住

参考例句：

• There are those who think eczema is catching.有人就是认为湿疹会传染。
• Enthusiasm is very catching.热情非常富有感染力。

4 noted   

adj.著名的，知名的

参考例句：

• The local hotel is noted for its good table.当地的那家酒店以餐食精美而著称。
• Jim is noted for arriving late for work.吉姆上班迟到出了名。

5 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

6 costlier   

adj.昂贵的( costly的比较级 )；代价高的；引起困难的；造成损失的

参考例句：

• Alligator skin is five times more costlier than leather. 鳄鱼皮比通常的皮革要贵5倍。 来自互联网
• Disagreements among creditors can be costlier still. 债权人之间的分歧会加大重组的费用。 来自互联网

7 disorders   

n.混乱( disorder的名词复数 )；凌乱；骚乱；（身心、机能）失调

参考例句：

• Reports of anorexia and other eating disorders are on the increase. 据报告，厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
• The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》

8 transfusion   

n.输血，输液

参考例句：

• She soon came to her senses after a blood transfusion.输血后不久她就苏醒了。
• The doctor kept him alive by a blood transfusion.医生靠输血使他仍然活着。

9 transfusions   

n.输血( transfusion的名词复数 )；输液；倾注；渗透

参考例句：

• Still, transfusions have apparently never spread the disease, even among hemophiliacs. 还有，输血很明显从未传播过这种病，即使在血友病人之间也是如此。 来自英汉非文学 - 生命科学 - 口蹄疫疯牛病
• Blood transfusions are a special, limited example of tissue transplantation. 输血是一个特殊的、有限制的组织移植的例子。 来自辞典例句

10 erase   

v.擦掉；消除某事物的痕迹

参考例句：

• He tried to erase the idea from his mind.他试图从头脑中抹掉这个想法。
• Please erase my name from the list.请把我的名字从名单上擦去。