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• Posted October 24, 2024

Newborn Genome Analysis Spots More Health Issues Than Standard Screening

DNA analysis of newborns can detect many more preventable or treatable health problems than standard newborn screening does, a new study shows.

Genome sequencing identified 120 babies with serious and treatable health conditions out of 4,000 newborns, researchers reported Oct. 24 in the Journal of the American Medical Association.

By comparison, conventional screening techniques only identified 10 of those babies.

One newborn’s life was saved by a bone marrow transplant after genetic screening detected a rare variant that causes “boy in the bubble syndrome,” a lethal immune deficiency disorder, researchers said.

Standard screening missed the child’s immune deficiency; catching it through DNA testing gave doctors the opportunity to protect the baby from life-threatening infections until a transplant could be performed, researchers said.

“The results show us that genome sequencing can radically improve children’s medical care,” said researcher Dr. Joshua Milner, chief of allergy, immunology and rheumatology services at NewYork-Presbyterian/Columbia University Irving Medical Center in New York City.

“Genome sequencing allows us to detect things that cause serious illness and take action to prevent those illnesses 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 so much more than current methods.”

In genetic screening, a newborn’s DNA is analyzed to look for hundreds of specific gene variants known to cause diseases.

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 every 300 babies born in the United States is diagnosed with a treatable health condition uncovered by conventional newborn screening, researchers said in background notes.

Standard screening uses a blood test to check for specific biomarkers linked to different conditions, researchers said.

“Newborn screening is one of the greatest achievements in public health,” said researcher Dr. Jordan Orange, chair of pediatrics at Columbia University Vagelos College of Physicians and Surgeons. “It’s an instant equalizer of health care because everyone is screened, ensuring all babies have the same chance at the healthiest life.”

But with the advent of cheaper, easier genetic analysis, DNA screening could become a potentially better option for testing newborns for potential illnesses, researchers said.

“We’re 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 to look for.”

The DNA screening used in the study looks for gene variants linked to more than 450 health problems, researchers said. It also could be easily expanded, as dozens of new conditions are identified every year.

“It would be prohibitive to screen for all these diseases with standard testing,” Orange explained, “but with genomic screening, there’s minimal extra cost when adding a condition. We can screen for treatable disorders that we never thought of screening for before.”

Beginning 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 linked to 156 rare but treatable conditions. Parents had the option to add in an additional panel of 99 conditions that currently aren’t 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 total since the program started, researchers said.

Initial genome screening highlighted 151 newborns as potentially having a rare condition. Subsequent testing revealed that 120 children were true positives.

Most of the children -- 92 out of 120 -- had an enzyme deficiency called glucose-6-phosphate dehydrogenase deficiency, which is not included in traditional screening. People with this deficiency have potentially life-threatening reactions to certain foods and medications, researchers said.

Most parents eagerly participated in the genetic screening, with 72% agreeing to the initial panel and, of those, 90% agreeing to the optional expanded panel, results show.

The project aims to enroll 100,000 babies in the next few years to get a better understanding of the benefits and cost-effectiveness of such genetic testing.

Total screening costs will increase as more children are screened, and more kids who initially test positive require follow-up examination, researchers said.

“These costs need to be weighed against the costs incurred if a child gets sick with a condition that could have been treated if caught earlier, and the value of saving lives,” Milner said. “Ultimately, it’s a matter of who will pay for it. When you realize that genomic screening can detect so many more conditions, prevent more illness and save lives, the extra cost of may be worth it.”

More information

The U.S. Centers for Disease Control and Prevention has more on newborn screening.

SOURCE: Columbia University Irving Medical Center, news release, Oct. 24, 2024