Adds CLN2, MPS IVA, MPS VI, MPS VII and Fabry diseases to the newborn screening panel for New York state

• Democratic8
• Republican1

◆ The sponsor's argument

Why Lea Webb says this is needed

The Recommended Uniform Screening Panel (RUSP) is a list of conditions that the United States Department of Health and Human Services (HHS) recommends that all states include in their newborn screening programs. It currently includes 38 core conditions and 26 secondary ones. The Advisory Committee on Heritable Disorders In Newborns and Children (ACHDNC) was the federal body that advised the Secretary of HHS on updates to the RUSP and broader screening policies, but this committee was officially disbanded in April 2025. With the federal advisory Infrastructure no longer active, state-level efforts are now critical to ensure timely updates to screening panels and expanded access to testing. There would be minimal additional cost to hospitals for adding CLN2, MPS IVA, MPS VI, Fabry disease, and MPS VII to the newborn screening panel. Screening can be performed using existing platforms, and statewide expansion would require no additional laboratory equipment or infras- tructure. Although each of these conditions is rare, together they represent a meaningful burden of serious, progressive pediatric disease with well- documented diagnostic delays and irreversible harm when diagnosis occurs late. Statewide newborn screening ensures that all newborns - regardless of race, geography, family history, or access to specialists - have equitable access to early diagnosis, treatment, and genetic counseling. Adding these conditions to the newborn screening panel would build on existing infrastructure to prevent avoidable disability, improve long- term outcomes, and promote health equity statewide. Further explanation of the diseases to be included is as follows: CLN2 Disease (Late Infantile Neuronal Ceroid Lipofuscinosis Type 2) is a devastating, inherited neurodegenerative disorder that causes progres- sive loss of motor function, speech, vision, and cognition. MPS IVA (Morquio A Syndrome) is a serious, inherited lysosomal storage disorder that leads to progressive skeletal disease, cardiopulmonary complications, vision and hearing impairment, and significant physical disability. MPS VI (Maroteaux-Lamy Syndrome) is a progressive, inherited lysosomal storage disorder that causes multi-system disease, including severe skeletal abnormalities, cardiopulmonary disease, vision and hearing loss, joint stiffness, and reduced life expectancy. MPS VII (Sly Syndrome): MPS VII is a serious, inherited lysosomal stor- age disorder that causes progressive, multi-system disease due to the absence of the enzyme betaglucuronidase. Fabry Disease: Fabry disease is a serious, inherited lysosomal storage disorder that interferes with the body's ability to break down glycos- phingolipids, leading to progressive damage to vital organs.

This is the sponsor's own case for the bill, quoted from their memorandum. It is not Agora's description of what the bill does.