VOA健康报道2023--Study: Whole Genome Testing Finds Diseases Better in Children（在线收听）

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 genetic details found a rare bleeding disorder. Catching 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 noted 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 genes 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 costlier 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 disorders. 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 transfusions 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 erase," 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

transfusion – 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