Rep. Kathy L. Rapp, who serves as the Republican chair of the House Health Committee, commented after a recent committee hearing focused on Pennsylvania’s Newborn Screening Program.
Rapp emphasized the significance of newborn screening in identifying genetic and metabolic disorders early. She stated, “Newborn screening is an important tool to detect serious, but often treatable, genetic and metabolic disorders that may not be apparent in a newborn at birth. Often, diseases that are not identified early can lead to health problems if left untreated. Newborn screening allows for early diagnosis and intervention, which in turn allows for an improvement in health outcomes for newborns. In addition to improved health outcomes, early intervention and treatment can reduce medical costs for newborns as they grow and develop.”
She noted that legislation was updated in 2020 to make the process more uniform across Pennsylvania. “The law regarding approval of additional newborn screenings was amended in 2020 to update and standardize the newborn screening process in the Commonwealth. As with any law that provides oversight by a board or commission, the General Assembly must determine when they should intervene and when they should defer judgment to that board or commission,” Rapp said.
During the hearing, panelists advocated for adding two rare diseases to the state’s current list of conditions screened at birth. Rapp acknowledged both the benefits and financial implications of expanding these screenings: “At our hearing, we heard testimony calling for the addition of two rare diseases into Pennsylvania’s newborn screening process. While it would be great to scan for each of the thousands of known genetic diseases, each disease added to the screening process incurs a cost, which must be paid for by the taxpayer, the health care center or the patient.”
Rapp concluded by expressing appreciation for those who provided input during the session: “I want to thank the panelists for their testimony. Their knowledge and experience is helping all members of the committee make an informed decision about a very complicated issue.”
