Emory U program wins $2M toward CF newborn screening effort
Funds will help support a multistate consortium in Southeast US
An Emory University program has been awarded $2 million toward optimizing the effectiveness of U.S. newborn screening programs, which help identify serious health conditions such as cystic fibrosis (CF) at birth.
The four-year funding opportunity comes through a cooperative agreement with the U.S. Health Resources and Services Administration and was granted to Emory’s Medical Nutrition Therapy for Prevention (MNT4P) program. The funds will help support a multistate consortium for strengthening newborn screening in the Southeast U.S.
“Our goals for the consortium are to enhance the efficiency and timeliness of newborn screening sample collection, testing and reporting; examine equity and disparities; and improve short- and long-term newborn screening follow-up, all while meaningfully engaging and partnering with the providers and families at every level of the newborn screening system to improve patient outcomes,” Rani H. Singh, PhD, director of MNT4P, principal investigator of the consortium, and an Emory professor, said in a university press release.
All babies born at hospitals in the U.S. undergo NBS, which is designed to identify serious health conditions at birth. The procedure usually involves collecting a blood spot from a tiny heel prick a day or two after the baby is born that’s analyzed for abnormalities related to a range of different diseases.
Screening for CF
In the U.S., each state runs its own NBS program, so the exact conditions tested may vary. CF, a rare inherited condition caused by mutations in the CFTR gene, is included on NBS screening panels in all 50 states and Washington D.C.
The heel prick is analyzed for a pancreatic protein called immunoreactive trypsinogen (IRT) that’s usually elevated in CF. A positive IRT test indicates a baby possibly has CF, but the protein can also be elevated under other circumstances, so more testing is needed to confirm a diagnosis.
The goal of this type of screening is to enable a prompt diagnosis and start to treatment, sometimes before a baby has any symptoms of a condition.
“Newborn screening improves infant outcomes by providing timely results and is further enhanced by the swift initiation of therapeutic interventions, including medical nutrition therapy in many disorders, based on diagnoses,” Singh said.
For CF, an early diagnosis means babies can start disease-modifying therapies as soon as possible, helping to delay or prevent some of the more serious disease complications in the long term. Patients can also then be monitored for signs of nutritional issues, breathing difficulties, or other health problems commonly seen in babies with CF.
The newly funded consortium will be called the Southeast Integrative Newborn Screening—Long-Term Follow-Up Consortium.
One primary goal is to focus on efforts that ensure NBS specimens are collected efficiently, no more than two days after birth. To achieve that, a secure data exchange infrastructure will be implemented regionally and nationally.
The other main goal is to identify and develop data elements for specific disorders that can be used to make it easier for families to access treatment and information once NBS has identified a condition, and improve long-term outcomes.
The only nationally funded multistate consortium, it includes health departments in Georgia, Florida, Louisiana, and Mississippi, along with partnerships with states in the Southeastern Regional Genetics Group.
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