Genome Sequencing for Expanded Newborn Screening and Early Intervention: Study Sheds Light - Video

Early results from a study of newborn screening methods show that DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening and is favored by most parents who are offered the option. The findings were published in the JAMA network.

The study called GUARDIAN is one of the first large-scale studies in the world to use genome sequencing as a method for newborn screening and is the first to publish preliminary results.

“The results show us that genome sequencing can radically improve children’s medical care,” says Joshua Milner, professor of Pediatrics, director of Allergy/Immunology and Rheumatology at Columbia University Vagelos College of Physicians and Surgeons, and one of the study’s co-authors.

“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,” says Milner, who is also the chief of the allergy, immunology and rheumatology services at NewYork-Presbyterian Morgan Stanley Children’s Hospital. “It should be instituted as the next standard for newborn screening because it can detect so much more than current methods.”

In genome sequencing, a newborn’s DNA is analyzed to look for hundreds of specific gene variants that are known to cause diseases. The technology has the potential to detect thousands of genetic diseases, far more than the approximately 60 disorders that standard newborn screening now detects.

Among the first 4,000 newborns enrolled in the GUARDIAN study, genome sequencing identified 120 babies (3%) with serious health conditions, only 10 of whom were identified with standard newborn screening. For one child, detecting a rare gene variant that causes a severe immunodeficiency disorder that was missed by conventional screening resulted in a lifesaving bone marrow transplant.

Reference: Ziegler A, Koval-Burt C, Kay DM, et al. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. Published online October 24, 2024. doi:10.1001/jama.2024.19662