GUARDIAN Screening Panel Expands Early Detection for Rare and Treatable Diseases

On this episode of Advances in Care, host Erin Welsh revisits the story behind the GUARDIAN study, which screens thousands of newborn babies against rare disease by sequencing their genes, and looking for more conditions than any of the current standard screening panels. She hears from Dr. Jordan Orange on 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, and Dr. Joshua Milner on how early detections of severe combined immune deficiency (SCID) indicated a higher prevalence than previously thought. Erin then speaks with Dr. Steven Lobritto about Wilson’s disease and Dr. Eric Silver about Long QT Syndrome, and how identifying these conditions in newborns allows for simple treatment interventions that avoid damaging complications.