Study: Whole Genome Testing Finds Diseases Better in Children
2023-09-05
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1Brynn Schulte nearly died two times when she was a baby.
2At one point she needed emergency surgery for bleeding in her brain.
3No one knew what was wrong.
4Then, a test that looked at her full genetic details found a rare bleeding disorder.
5Catching the disorder early saved her life.
6"You have this hopeless feeling when you don't really know what's going on," said her father, Mike Schulte.
7He noted that the test made a difference in finding the cause and "getting her the right care that she needed almost immediately."
8Brynn, now 4, got the genetic testing as part of a clinical trial.
9The results of which were published recently in The Journal of the American Medical Association.
10Testing all of the details of a person's genes is called "whole genome" testing.
11Whole genome tests are much better than narrowly targeted tests when it comes to finding genetic differences, called abnormalities, that can cause disease.
12The study found 49 percent of these abnormalities, compared to 27 percent with more commonly used tests targeting only some genetic diseases.
13Whole genome tests could solve the problem of doing several narrowly targeted tests on babies, which still might not find the disorder.
14Experts warn there are some problems because labs vary in how they understand results.
15Also, whole genome tests are costlier and less likely to be covered by insurance.
16But researchers hope that whole genome tests will at some point be used for millions of hospitalized babies with rare and difficult conditions.
17The U.S. National Human Genome Research Institute has found that around 350 million people around the world live with rare disorders.
18And it found that about 80 percent of the more than 7,000 conditions are genetic.
19"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.
20"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."
21The night Brynn was born, she had difficulty breathing.
22There was also some bleeding in her brain.
23So, doctors gave her blood transfusions and tests for different bleeding problems.
24When Brynn was a month old, she had surgery after a huge brain bleed.
25Her mother Lindsay Schulte said no one was sure about her condition.
26"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.
27Then the Schulte family learned about the clinical trial.
28Brynn and both parents got the whole genome testing.
29The results came in less than a week later: She had a rare bleeding disorder.
30It affects an estimated 1 in 2 million to 1 in 3 million live births.
31She also had another condition that caused a severe reaction to some drugs.
32Doctors said the correct results would likely have taken more time or even missed with several narrow, targeted tests.
33That is because targeted tests cover maybe 1,700 out of 20,000 genes.
34But whole genome testing "captures more things," said Dr. Paul Kruszka of GeneDx.
35It is a company that provides whole genome testing but was not involved in the study.
36Dr. Jill Maron is a study writer and a chief of children's medicine at Women & Infants Hospital in Rhode Island.
37She 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.
38Experts like her say that greater access to full genome tests is necessary if more children are going to be helped.
39I'm Gregory Stachel.
1Brynn Schulte nearly died two times when she was a baby. At one point she needed emergency surgery for bleeding in her brain. 2No 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. 3"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." 4Brynn, 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. 5Testing 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. 6The study found 49 percent of these abnormalities, compared to 27 percent with more commonly used tests targeting only some genetic diseases. 7Whole 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. 8But 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. 9"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." 10No one was sure about Brynn's condition 11The 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. 12Her 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. 13Then 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. 14Doctors said the correct results would likely have taken more time or even missed with several narrow, targeted tests. 15That 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. 16Dr. 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. 17Experts like her say that greater access to full genome tests is necessary if more children are going to be helped. 18I'm Gregory Stachel. 19Laura Ungar reported this story for the Associated Press. Gregory Stachel adapted the story for VOA Learning English. 20____________________________________________________ 21Words in This Story 22surgery - n. medical treatment in which a doctor cuts into someone's body in order to repair or remove damaged or diseased parts 23clinical - 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 24insurance - 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 25transfusion - n. a medical treatment in which someone's blood is put into the body of another person 26twice - adv. two times 27erase - v. to remove any thought or memory of (something) 28access - n. a way of being able to use or get something