Advocates urge expedited review and vote to add Gaucher disease to Pennsylvania newborn screening panel
October 29, 2025 | Health, House of Representatives, Legislative, Pennsylvania
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Advocates for newborn screening for Gaucher disease pressed the Pennsylvania House Health Committee on Friday to force action after what they described as opaque denials by the Department of Health.
"I am a type 1 Gaucher patient, and I also have a teenage son, Eli," Aviva Rosenberg said during testimony for the Gaucher Community Alliance. Rosenberg and other witnesses said they submitted the official nomination packet to the state technical advisory board twice and received denial letters; they said there was no open committee hearing and no dissemination of the nomination packets to the full board.
Rosenberg said Pennsylvania already runs the Neo‑LSD testing equipment used to detect lysosomal storage disorders and that, in her view, the state could begin reporting results without drawing additional blood from newborns. "Pennsylvania already tests for uses the equipment. The state lab has the Neo LSD kit. And so the baby that there is no additional blood from the baby. The the tests are the machine is already running the test for Gaucher disease. So all they would have to do is uncover the results," she said.
Department of Health Secretary Deborah Bogan and geneticist Gerald Vockley, MD, said the department follows the process established under Act 133 of 2020 and that the TAB is the forum for adjudicating nominations. Dr. Vockley said he would support re‑review if advocates provide new or clarifying evidence; the secretary agreed to consult program staff and return a timeline to the committee.
Advocates stressed population differences across states: several witnesses and written materials cited higher Gaucher detection rates in states with larger Ashkenazi Jewish populations and noted that neighboring states that adopted Gaucher screening have identified several cases per year. Aviva Rosenberg told committee members other states that have adopted Gaucher screening have had public hearings and open attendance.
Members expressed frustration with perceived opacity and asked the department to speed the TAB review process. Representative Cathy Rapp, who said she would be prepared to support House Bill 1652, added she would consider withdrawing legislative action if the Department shows it will promptly reexamine the nomination.
No vote occurred at the hearing. Advocates asked the committee to either bring HB 1652 to a vote or require the Department of Health to re‑review Gaucher nominations with greater transparency and a clear timetable.
"I am a type 1 Gaucher patient, and I also have a teenage son, Eli," Aviva Rosenberg said during testimony for the Gaucher Community Alliance. Rosenberg and other witnesses said they submitted the official nomination packet to the state technical advisory board twice and received denial letters; they said there was no open committee hearing and no dissemination of the nomination packets to the full board.
Rosenberg said Pennsylvania already runs the Neo‑LSD testing equipment used to detect lysosomal storage disorders and that, in her view, the state could begin reporting results without drawing additional blood from newborns. "Pennsylvania already tests for uses the equipment. The state lab has the Neo LSD kit. And so the baby that there is no additional blood from the baby. The the tests are the machine is already running the test for Gaucher disease. So all they would have to do is uncover the results," she said.
Department of Health Secretary Deborah Bogan and geneticist Gerald Vockley, MD, said the department follows the process established under Act 133 of 2020 and that the TAB is the forum for adjudicating nominations. Dr. Vockley said he would support re‑review if advocates provide new or clarifying evidence; the secretary agreed to consult program staff and return a timeline to the committee.
Advocates stressed population differences across states: several witnesses and written materials cited higher Gaucher detection rates in states with larger Ashkenazi Jewish populations and noted that neighboring states that adopted Gaucher screening have identified several cases per year. Aviva Rosenberg told committee members other states that have adopted Gaucher screening have had public hearings and open attendance.
Members expressed frustration with perceived opacity and asked the department to speed the TAB review process. Representative Cathy Rapp, who said she would be prepared to support House Bill 1652, added she would consider withdrawing legislative action if the Department shows it will promptly reexamine the nomination.
No vote occurred at the hearing. Advocates asked the committee to either bring HB 1652 to a vote or require the Department of Health to re‑review Gaucher nominations with greater transparency and a clear timetable.
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