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SB 495

Health - Newborn Screening Program - Gaucher Disease

2026 Regular Session Introduced by Shelly Hettleman

Maryland would screen all newborns for Gaucher disease to enable early treatment and prevent serious complications from this rare genetic disorder.

Hearing 2/18 at 1:00 p.m.
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Bill Summary · SB 495

Legislative bill overview

SB 495 would require Maryland to add Gaucher disease to its newborn screening program. Gaucher disease is a rare genetic disorder affecting lipid metabolism that can cause organ damage, bone problems, and neurological complications if untreated. The bill mandates screening all newborns for this condition to enable early intervention.

Why is this important

Early detection of Gaucher disease allows for prompt treatment that can prevent or significantly delay serious health complications, potentially improving quality of life and reducing long-term medical costs. Currently, many cases go undiagnosed until symptoms appear, sometimes years after birth when irreversible damage may have occurred. Adding it to newborn screening ensures affected infants receive immediate care.

Potential points of contention

  • Program costs and funding: Expanding newborn screening requires laboratory infrastructure, equipment, and staff resources; unclear who bears these expenses or if state budget can absorb them
  • Condition rarity and screening justification: Gaucher disease is rare (1 in 40,000-60,000 births); some may question whether universal screening is cost-effective versus targeted screening for high-risk populations
  • Treatment availability and equity: Gaucher disease treatments exist but are extremely expensive; screening without guaranteed access to treatment could create ethical concerns about identifying conditions families cannot afford to treat

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

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