Pennsylvania Legislature Adds Gaucher Disease to Screening

The state legislature approved a measure to include Gaucher disease in mandatory newborn screening panels.

Updated on Oct. 22, 2026 in Legislative Policy

Isometric editorial illustration of a glass medical vial and a DNA helix, representing genetic screening policy. — The Pennsylvania legislature has passed a bill requiring Gaucher disease to be included in mandatory state newborn screening panels, pending the governor's signature. AI Illustration. Upload story photo >

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Pennsylvania lawmakers have passed House Bill 1652, which mandates the inclusion of Gaucher disease in the state newborn screening panel. The legislation now heads to Governor Josh Shapiro for his signature to become law.

Why it matters

Early identification of the genetic disorder provides critical information for families before symptoms manifest. Gaucher disease is the most prevalent inherited genetic condition among individuals of Ashkenazi Jewish descent.

House Bill 1652 mandates adding the condition to state panels after it was previously disqualified under the 2020 newborn screening law. The legislation passed both chambers of the Pennsylvania General Assembly and awaits gubernatorial action.

The players

Abigail Salisbury

She is the Pennsylvania State Representative for the 34th District who sponsored the legislation.

Josh Shapiro

He is the Governor of Pennsylvania who will sign the bill into law.

Dan Frankel

He is the Pennsylvania State Representative for the 23rd District who spoke on the bill in the House.

The details

Representative Abigail Salisbury sponsored the bill, which gained support from families seeking to facilitate earlier diagnosis for newborns. The measure brings Pennsylvania in line with several other states, including Missouri, New Jersey, Tennessee, Oregon, New Mexico, and Illinois, that already include Gaucher disease in their screening programs.

The state established the current newborn screening law in 2020.
Representative Dan Frankel made remarks before the House in early October 2026.
The legislature reached the Governor with the bill on October 22, 2026.

Political Context

The bill represents a targeted legislative effort to update the 2020 Pennsylvania newborn screening law, which previously excluded Gaucher disease. Opposition to the measure focused on the original legislative criteria, which supporters successfully challenged to prioritize early detection.

Once the law takes effect, families across Pennsylvania will have access to earlier diagnostic information for newborns affected by Gaucher disease. This change streamlines healthcare access for parents, ensuring screening happens at birth rather than after symptoms appear.

The takeaway

Legislative advocacy remains a powerful tool for families looking to update medical mandates for rare genetic conditions. Parents of newborns can stay informed by monitoring the state health department for updates on when the new screening requirements will officially begin.