Cure Sanfilippo Foundation has joined other rare disease patient organizations in thanking the North Carolina House of Representatives for its leadership in passing HB 736, Timely Updates to Newborn Screening Program, and calling for the Senate to also pass the important legislation. The appreciation and call for Senate action was submitted as a sign-on letter coordinated by the EveryLife Foundation for Rare Diseases.
HB 736 provides a thoughtful approach to expanding newborn screening in North Carolina that ensures that all federal Recommended Uniform Screening Panel (RUSP) conditions are added to the screening panel in a reasonable amount of time. The RUSP is periodically updated using a thorough, science and evidence-based deliberative review process involving a national committee of experts in newborn screening. By allowing North Carolina to take advantage of the work done by these medical experts at the federal level, we can remove the obstacles to needed for this testing and minimize the irreversible disease progression and loss of life that comes from untreated diseases.
North Carolina passed legislation in 2018 that required the state to screen for all conditions on the RUSP and identified a funding source that enables the state’s newborn screen program to pay for the additional conditions. This impactful legislation ensures that North Carolina can utilize the work done by medical experts, however multiple conditions on the RUSP still remain off the North Carolina newborn screening panel even after being on the RUSP for as long as seven years.
This legislation would require the North Carolina Department of Health and Human Services (NCHHS) to implement new screening recommendations within three years of the RUSP approval, ensuring that babies born in North Carolina have the same opportunity for diagnoses and treatments as babies born across state lines. In addition, it will require the NCHHS to report to the Joint Legislative Oversight Committee on Health and Human Services on the status of efforts to add a condition 18 months after RUSP addition and every 6 months if it misses the three-year deadline. These additional reporting requirements provide important transparency of processes and will help facilitate opportunities to work through screening implementation challenges.
“The impact of expanded newborn screening cannot be overstated to helping children have the best quality of life possible,” said Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP. “Diagnosing children with life-limiting disorders upon birth provides the families with the information needed to immediately seek clinical trial opportunities and therapies, which is quite literally the only lifeline these children have in many cases.”