Newborn Gene Sequencing: Expanding Early Detection of Treatable Diseases

On this episode of Advances in Care, host Erin Welsh explores the story behind the GUARDIAN study, where thousands of newborn babies have been screened against rare disease by sequencing their genes, and looking  for more conditions than any of the current standard screening panels. First, she hears from Dr. Jordan Orange, Physician-in-Chief at Morgan Stanley Children’s Hospital at NewYork-Presbyterian and Columbia, about why genetic testing is a promising way of not only catching treatable rare diseases in infants, but also expanding health equity and medical resources to marginalized populations.

Erin also hears from Dr. Josh Milner, a pediatric immunologist who treated a patient with a rare form of SCID, or severe combined immune deficiency, also known as bubble boy disease that was detected in the GUARDIAN screening panel. SCID is a disease that typically occurs in 1 of 50,000 babies. But GUARDIAN caught two cases within the first 10,000 babies involved in the program, indicating that the rate of the disease might be higher than expected, and that the most accurate way to detect is through genetic screening.

Dr. Steven Lobritto, a pediatric gastroenterologist, also weighs in on how genetic screening can help identify Wilson’s disease, a copper storage disorder that causes liver damage when left unchecked. And Dr. Eric Silver, a pediatric electrophysiologist, discusses how the program detected a heart rhythm disorder called Long QT Syndrome for both a newborn baby and their father.

Finally, Erin gets the big-picture takeaways from Dr. Orange, who reflects on what the results of GUARDIAN could mean for the future of newborn screening and health policy, and how he hopes to see genetic testing expand research and treatment of rare diseases.

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