The Wadsworth Center’s Newborn Screening Program hosted a specialized national training workshop at the David Axelrod Institute in Albany from June 10-12, 2026, providing laboratory and follow-up professionals from newborn screening programs across the United States with training on five disorders recently added to the federal Recommended Uniform Screening Panel (RUSP): Krabbe disease, guanidinoacetate methyltransferase (GAMT) deficiency, mucopolysaccharidosis type II (MPS II), Duchenne muscular dystrophy (DMD), and metachromatic leukodystrophy (MLD).
The New York State Newborn Screening Program was selected to host the workshop based on its nationally recognized expertise in screening for these conditions through universal implementation or pilot studies, as well as their extensive experience providing technical training to other state newborn screening programs. The workshop welcomed eight laboratory scientists and six follow-up specialists representing newborn screening programs from across the country. Participants received hands-on laboratory instruction from New York State laboratory staff using multiple advanced screening technologies, including flow-injection analysis tandem mass spectrometry (FIA-MS/MS), liquid chromatography tandem mass spectrometry (LC-MS/MS), time-resolved fluoroimmunometric assays, and Sanger sequencing. In addition, senior program staff delivered presentations on best practices for laboratory screening, referral and diagnostic algorithms, validation study design, tiered testing strategies to reduce false-positive results, quality improvement initiatives, and other unique considerations associated with implementing screening for these disorders.
Follow-up program staff facilitated interactive educational sessions and case study discussions designed to strengthen communication between laboratory and clinical teams and to enhance understanding of patient management following abnormal screening results. The workshop also featured three invited virtual presentations from national experts. Dr. Melissa Wasserstein, Professor and Chief of the Division of Pediatric Genetic Medicine at Albert Einstein College of Medicine, discussed the importance of conducting prospective pilot studies prior to implementation of universal screening for new disorders. Dr. Bo Hoon Lee, Director of the Newborn Screening Subspecialty Care Center for infants with neuromuscular and pediatric neurologic diagnoses at the University of Rochester, presented on the impact of universal newborn screening for Duchenne muscular dystrophy on clinical care and patient outcomes. Ms. Heidi Wallis, Executive Director of the Association for Creatine Deficiencies (ACD), shared her family’s experience raising two children with GAMT deficiency, illustrating the profound benefits of early diagnosis and treatment through newborn screening.
The workshop was led by Drs. Catherine Balnis and Denise Kay of the Wadsworth Center’s Newborn Screening Program. Funding for the training was provided through the Health Resources and Services Administration (HRSA) via the Association of Public Health Laboratories (APHL), supporting the continued advancement of newborn screening capacity and expertise across the nation.