An Act improving newborn screening tests

194th Legislature (2025-2026) Introduced by Ryan Fattman and 1 co-sponsor

Expands Massachusetts newborn screening to include Krabbe, Fabry, Gaucher, Pompe, MPS I, and Niemann-Pick (A/B) for earlier detection and intervention.

House concurred

Overview

Purpose: To enhance Massachusetts’ newborn screening program by adding several lysosomal storage disorders (LSDs) to the conditions screened in newborns. The bill aims to enable earlier detection and potential treatment of these disorders.

Title and status: An Act improving newborn screening tests. Status: House concurred (2025-02-27). Referred to the Committee on Public Health on the same date.

Introduction and docket: Introduced February 27, 2025 as Senate Docket No. 920; related matter previously filed in 2023-2024 (Senate No. 1366).

What the bill would change

Source of authority: Amends Section 110A of Chapter 111 of the General Laws (as appearing in the 2022 Official Edition).

Specific amendment: Inserts the following list immediately after the word “cretinism” in line 3:

Krabbe disease
Fabry disease
Gaucher disease
Pompe disease
MPS I (Mucopolysaccharidosis Type I)
Niemann-Pick disease types A and B

Implication: These six lysosomal storage disorders would be added to the list of conditions covered by the state’s mandatory newborn screening panel, expanding the scope of screening beyond existing conditions.

Who would be affected

Primary affected population: Newborns in the Commonwealth of Massachusetts and their families.

Implementing bodies: State health authorities, including the Department of Public Health and entities administering the newborn screening program, responsible for incorporating these LSD tests into the screening panel and managing follow-up.

Procedural and timeline considerations

Legislative progress:

Senate introduced as SD 920 (1/15/2025).
House concurred (2/27/2025).
Referred to the Committee on Public Health (2/27/2025).

Effective date: The text of the bill excerpt does not specify an effective date; if enacted, the effective date would be determined by subsequent statutory provisions or a later act.

Additional context

The bill is part of ongoing discussions to expand newborn screening for early detection of rare diseases, building on prior related proposals (notably Senate No. 1366 from the 2023–2024 session).

The bill identifies LSDs as the target expansion, aligning with public health goals to improve early intervention, treatment options, and long-term outcomes for affected children.

Potential impact (high level)

Benefits: Earlier diagnosis and timely medical interventions for Krabbe, Fabry, Gaucher, Pompe, MPS I, and Niemann-Pick A/B, potentially improving health outcomes and quality of life for affected individuals.

Considerations: Implementation would require follow-up confirmatory testing, counseling, and access to appropriate treatments and therapies; resource and infrastructure implications for the newborn screening program.

Bill