Pennsylvania bill would add Gaucher disease to newborn screening panel

Pennsylvania House Bill 1652 — which would add Gaucher disease to the list of conditions tested for on Pennsylvania’s newborn screening panel — achieved final passage in Pennsylvania’s House and Senate and is headed to Gov. Josh Shapiro to sign the bill into law, according to a news release from Rep. Dan Frankel of District 23.

The bill was sponsored by Rep. Abigail Salisbury, of District 34.

At remarks before the House in early October, Frankel noted: “Gaucher is the most prevalent inherited genetic disorder among people of Ashkenazi Jewish descent. A disease that disproportionately affects one population can be hard to diagnose, and diagnosis too often depends on someone thinking of looking for it. Experts who treat Gaucher say early identification can make a significant difference for families, and a newborn screen would give families and their doctors that information before symptoms appear.”

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Gaucher does not currently meet the criteria for inclusion under the process created by the state’s 2020 newborn screening law, so legislation was needed to add it.

“This bill exists because of parents,” Frankel said. “Families who have lived with this disease have fought for it, hoping to spare future families the struggles they went through.”

Missouri, New Jersey, Tennessee, Oregon, New Mexico and Illinois have already added Gaucher to their newborn screening panels. House Bill 1652 would add Pennsylvania to that list. PJC