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HB 1055

Health - Newborn Screening Program - Gaucher Disease

2026 Regular Session Introduced by Jon Cardin and 11 co-sponsors

Maryland would mandate newborn screening for Gaucher disease, enabling early detection and treatment of this rare genetic disorder affecting approximately 1 in 40,000-60,000 births.

Hearing 3/04 at 1:00 p.m.
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Bill Summary · HB 1055

Legislative bill overview

HB 1055 would add Gaucher disease to Maryland's newborn screening program, requiring all newborns to be tested for this rare genetic disorder. Gaucher disease is a lysosomal storage disorder that can cause organ damage, bone problems, and other serious complications if left untreated. Early detection through newborn screening enables prompt intervention and management.

Why is this important

Newborn screening programs identify treatable conditions before symptoms appear, allowing families to begin early treatment and prevent severe outcomes. Adding Gaucher disease to the screening panel would enable early diagnosis and access to disease-modifying therapies (like enzyme replacement therapy), potentially preventing serious complications. However, this expands the scope and cost of Maryland's public health screening infrastructure.

Potential points of contention

  • Cost and capacity: Adding screening tests increases laboratory costs and infrastructure demands; funding source and implementation timeline would need clarification
  • Rarity versus resources: Gaucher disease is rare (approximately 1 in 40,000-60,000 births); some argue resources should prioritize more common conditions
  • Treatment access and equity: Benefits depend on whether families can actually access approved treatments, which are expensive; potential disparities in access between insured and uninsured populations

Compiled from official sources — confirm details with the bill’s official record.

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