In pioneering study, gene technology outperforms standard newborn screening tests

DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening.

The study 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 technology has the potential to detect thousands of genetic diseases, far more than the approximately 60 disorders that current screening now detects.

Genes included in newborn screening cause diseases that could be prevented or treated if identified in early infancy.

The study collects DNA from the same dried blood spots collected after birth for traditional newborn screening.

Genome sequencing detected a lethal condition that standard screening missed.

Most children diagnosed with a genetic condition had an enzyme deficiency called glucose-6-phosphate dehydrogenase deficiency (G6PD) The study aims to enroll 100,000 babies in the next few years .

Wendy K. Chung is on the Board of Directors of Rallybio , Sail Biomedicines , and Prime Medicine.

The study was published in JAMA journal October 24 , 24 -Oct-2024.

CUIMC is a clinical, research, and educational campus located in New York City .