House Health Committee backs bill to add Gaucher disease to newborn screening

The House Health Committee on Friday voted to report House Bill 16 52, which would add Gaucher disease to Pennsylvania’s mandatory newborn screening panel.

Representative Salisbury, the bill’s sponsor, told the committee that Gaucher disease is an enzyme deficiency that affects lipid processing and “is something that we actually used to test for in Pennsylvania and is no longer on the newborn screening panel.” He said the condition is tested in other states and that “if your child is born in Pennsylvania, your child will not be tested for it at all,” leaving families to spend years trying to find a diagnosis.

The bill drew support from several members. Representative Venkat said she planned to support the legislation and urged the state’s technical screening panel to consider an expedited review of Gaucher disease, saying an authorization from the committee could prompt faster action. Chair Rapp acknowledged the importance of early detection and said he would carefully review the bill’s fiscal note; he asked the Department of Health to project the cost of adding Gaucher disease to the screening program, a figure that was not specified in the transcript.

Representative Salisbury also noted a population-level prevalence point, saying the disease “is most prevalent up to in Ashkenazi Jews” and that “up to 5 percent in certain pockets of populations of Ashkenazi Jews can have Gaucher disease.”

With no negative votes recorded in the meeting transcript, the committee reported the bill unanimously.

The committee did not record a roll-call tally in the transcript; committee members asked the Department of Health for cost information and noted that an expedited technical-panel review could be an alternative route to add the condition.