Dr. Joseph Orsini, Deputy Director of the New York State Newborn Screening Program at the Wadsworth Center, co-authored the Association of Public Health Laboratories’ Metachromatic Leukodystrophy Toolkit. The resource supports public health programs considering implementation of newborn screening for metachromatic leukodystrophy (MLD). The toolkit provides an overview of MLD and the newborn-screening process, practical implementation guidance, and educational materials for physicians who follow up with families after a positive screen. Dr. Orsini’s participation reflects Wadsworth’s national leadership in screening for lysosomal disorders and leukodystrophies.
MLD is a rare, serious, and often fatal lysosomal disorder that affects the brain’s white matter and the central and peripheral nervous systems. New York was the first state to launch a consented pilot newborn screening program for MLD over six years ago. Two years ago, the New York State Newborn Screening Program received federal funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to conduct a one-year MLD pilot study; current support is available through September 2026. In December 2025, MLD was added to the federal Recommended Uniform Screening Panel, signaling national endorsement of universal newborn screening for the condition. New York, Pennsylvania, and Illinois currently perform MLD screening.
Key issue: The program has requested a no-cost extension to continue screening for one additional year, but no funding has been identified beyond that period. Funding to support universal MLD screening was requested for FY 2026-27 but was not approved.