THURSDAY, Oct. 23, 2024 (HealthDay News) — DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screening tests, a new study shows.
Genome sequencing identified 120 babies with serious, treatable health conditions out of a total of 4,000 newborns, the researchers reported in the Oct. 24 issue of the Journal of the American Medical Association.
By comparison, conventional screening techniques only identified 10 of those babies.
A bone marrow transplant saved a newborn’s life after genetic testing detected a rare variant that causes “bubble baby syndrome,” a fatal immunodeficiency disorder, researchers said.
Standard screening tests did not detect the child’s immunodeficiency; Contracting it through DNA testing gave doctors a chance to protect the baby from life-threatening infections until a transplant could be performed, the researchers said.
“The results show us that genome sequencing can radically improve health care for children,” said researcher Dr. Joshua Milner, chief of allergy, immunology and rheumatology services at New York University Irving Medical Center. -Presbyterian/Columbia, in New York City.
“Genome sequencing allows us to detect things that cause serious diseases and take steps to prevent those diseases in a significant number of children, not just a few rare cases,” Milner added in a medical center news release. “It should be instituted as the next standard for newborn screening because it can detect much more than current methods.”
In genetic screening, a newborn’s DNA is analyzed to look for hundreds of specific genetic variants known to cause disease.
The technology has the potential to detect thousands of genetic diseases, far more than the approximately 60 health conditions that can now be detected by standard newborn screening.
About 1 in 300 babies born in the United States is diagnosed with a treatable health condition discovered by conventional newborn screening tests, the researchers noted in background notes.
Standard screening tests use a blood test to detect specific biomarkers linked to different conditions, the researchers said.
“Newborn screening is one of the greatest public health achievements,” said researcher Dr. Jordan Orange, chair of pediatrics at Columbia University Vagelos College of Physicians and Surgeons. “It’s an instant healthcare equalizer because everyone gets screened, ensuring that every baby has the same opportunity to live a healthier life.”
But with the advent of cheaper and easier genetic analysis, DNA testing could become a potentially better option for screening newborns for potential diseases, the researchers said.
“We are also in the midst of a revolution in children’s medicine and recognizing that many more pediatric conditions than we thought have genetic causes. And they can be treated,” Milner said. “It’s expanding our notion of the types of things we should look for.”
The DNA test used in the study looks for genetic variants linked to more than 450 health problems, the researchers said. It could also easily be expanded, as dozens of new conditions are identified each year.
“It would be prohibitive to screen for all of these diseases with standard tests,” Orange explained, “but with genomic testing, there is minimal additional cost to adding a condition. We can detect treatable disorders that we never thought to detect before.”
Starting in September 2022, researchers offered genome sequencing to every baby born at NewYork-Presbyterian hospitals in New York City. The test collects DNA from the same blood collected after birth for traditional newborn screening.
During its first year, the program analyzed genes related to 156 rare but treatable diseases. Parents had the option to add an additional panel of 99 conditions that are not currently treatable, but for which early interventions are available.
The first 4,000 newborns were tested between September 2022 and July 2023, and are part of the current report. More than 12,000 babies have been tested in total since the program began, the researchers noted.
Initial genome screening revealed that 151 newborns could have a rare disease. Subsequent testing revealed that 120 children were true positives.
Most of the children (92 of 120) had an enzyme deficiency called glucose-6-phosphate dehydrogenase deficiency, which is not included in traditional screening tests. People with this deficiency have life-threatening reactions to certain foods and medications, the researchers said.
Most parents enthusiastically participated in genetic screening, with 72 percent agreeing to the initial panel and, of those, 90 percent agreeing to the optional expanded panel, the results show.
The project aims to enroll 100,000 babies in the coming years to better understand the benefits and cost-effectiveness of such genetic testing.
Total screening costs will increase as more children are screened, and more children who initially test positive require follow-up screening, the researchers said.
“These costs must be weighed against the costs incurred if a child becomes ill with a condition that could have been treated if it had been detected earlier, and the value of saving lives,” Milner said. “Ultimately, it’s a question of who will pay for it. When you realize that genomic screening can detect many more conditions, prevent more diseases and save lives, the extra cost may be worth it.”
More information
The US Centers for Disease Control and Prevention (CDC) has more information about newborn screening.
SOURCE: Columbia University Irving Medical Center, news release, October 24, 2024