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. First, she hears from Dr. Jordan Orange, former 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. Joshua 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 incidence 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. Since recording this episode, Dr. Orange has taken on the role of pediatrician-in-chief of the Children’s Hospital of Philadelphia. Under his leadership, the department of pediatrics received consistent funding for research projects, reaching its highest level in 2024. This podcast conversation is a direct reflection of his team’s commitment to advancing children’s health at NewYork-Presbyterian and Columbia. For more information visit nyp.org/Advances CHAPTERS: [Dr. Jordan Orange introduces the GUARDIAN Program, a newborn screening panel that can detect over 450 rare and treatable genetic conditions. [Dr. Orange emphasizes the importance of genetic diversity in the testing population for the GUARDIAN study. Dr. Joshua Milner, co-author of the study, talks about how the GUARDIAN screening detected a patient with severe combined immune deficiency and allowed for early intervention. [Dr. Steven Lobritto shares how identifying Wilson’s disease before complications manifest later in life allows for a simple treatment that can enable patients to avoid organ damage and transplant. [Dr. Eric Silver discusses how early detection of Long QT Syndrome found the same gene in a child and their father and led to both starting medication to prevent abnormal heart rhythms. Dr. Orange also discusses the implications and future goals of this study. [