Please ensure Javascript is enabled for purposes of website accessibility House passes Salisbury bill to restore newborn screening for Gaucher disease

House passes Salisbury bill to restore newborn screening for Gaucher disease

Would ensure timely detection of genetic disease with multiple health impacts

Rep. Abigail Salisbury    October 5, 2026 | 3:32 PM

HARRISBURG, Oct. 5 – The Pennsylvania House today passed legislation introduced by state Rep. Abigail Salisbury that would require all Pennsylvania newborns to be tested for Gaucher disease, an inherited genetic disorder that can have devastating health consequences.

Salisbury, D-Allegheny, said H.B. 1652 would allow parents to know at the earliest possible time whether their newborn has the disease so they can obtain timely treatment to help alleviate symptoms.

“Pennsylvania screens newborns for a wide array of diseases to ensure that children who are affected can benefit from timely detection and treatment,” Salisbury said. “Until recently, the list of screened diseases included Gaucher disease, a genetic disorder that can cause devastating health problems, including organ, blood, and bone disorders and even certain cancers.

“Six years ago, Gaucher was dropped from the list of screened diseases, which means that hospitals and parents are no longer automatically notified if their newborn has the disease, and children are deprived of a vital, early treatment window that can alleviate some health impacts. My bill would reinstate screening for this devastating disease, so parents get the timely information they need to help their children.”

Gaucher disease is a genetic condition in which a person is missing an enzyme that breaks down lipids – fatty compounds in the body that serve various important functions. This can result in symptoms including a large liver and spleen, low number of red blood cells, easy bruising, bone pain, bone fractures, lung disease and even some cancers. In rare cases, the disease can affect the brain, causing unusual eye movements, swallowing difficulties and seizures.

Several other states test for Gaucher disease.

The bill, which passed by a large bipartisan majority, now heads to the state Senate for consideration.