Every baby born with cystic fibrosis deserves a timely and accurate diagnosis to stave off disease progression, putting them on a path to better health over their lifetimes. This timely diagnosis relies heavily on newborn screening — a nationwide public health program that screens for several diseases at birth, including CF. While all 50 states and the District of Columbia screen babies for cystic fibrosis, approaches vary by state, with approximately 40 different algorithms across the country screening for CF. These variabilities, with some states testing for only a handful of mutations and others testing for several hundred, introduce unintended health inequities that leave some babies behind. This burden of delayed diagnoses disproportionately falls on babies of color.
The Cystic Fibrosis Foundation has long advocated for improvements in newborn screening as part of its mission to ensure all people living with CF have the opportunity to lead long, healthy lives. Central to that work is the Foundation’s Newborn Screening Initiative — a partnership with external subject matter experts, clinical partners, and parents of children living with CF — to assess and improve equity, sensitivity, and timeliness in CF newborn screening. The initiative’s overall goal is to achieve best practices nationwide and improve health outcomes for all.
“The vital role newborn screening plays in the first days of a baby’s life cannot be overstated,” said Albert Faro, MD, chief medical officer of the Cystic Fibrosis Foundation and member of the Newborn Screening Initiative. “When doctors know at the earliest possible point that the child has cystic fibrosis, timely and effective care interventions give that baby the best chance at a healthier life.”
The Newborn Screening Initiative committee is developing guidelines for CF newborn screening with recommendations to improve screening methods within states’ newborn screening programs. A draft version of the guideline document is open for public comment through October 27. Comments are open to anyone, with a particular call to state newborn screening programs and pediatricians. The final guideline document is slated for publication in 2025 and will be the basis for a targeted CF Foundation advocacy strategy to support implementation.
Advancing Improvements in Newborn Screening Today
To drive improvements in newborn screening practices across the United States, the Foundation provides funding for the Screening Improvement Program Award for Optimizing the Diagnosis of Infants (SIP Award) to support programs exploring innovative approaches to newborn screening process improvement.
Since 2011, the Foundation has granted nearly $4 million to support ongoing quality improvements in CF newborn screening across the U.S. SIP Award grantees’ projects focus on enhanced communication between state newborn screening labs and doctors, improved algorithms to screen for more mutations, and improved access to genetic counseling following a positive screen. Several past SIP Award grants have led to improvements in state newborn screening practices. For instance, Emory University and Augusta University (both in Georgia) received a SIP Award grant in 2022 to evaluate the performance of the state’s newborn screening process. Specifically, funding was used to:
-
Determine the frequency of missed cases and delayed diagnoses after CF newborn screening in Georgia.
-
Compare the performance of different immunoreactive trypsinogen (IRT) screening processes.
-
Investigate the CFTR mutations in the Georgia population and evaluate the performance of an expanded panel.
As a result of this funding, the project team determined reasons for missed cases and provided data to the state showing that cases missed by newborn screening occurred disproportionally among babies of color. As a result, the Georgia Newborn Screening and Genetics Advisory Committee recommended implementing an expanded DNA panel in the state to achieve equitable diagnoses for all infants. Additionally, the project team worked with the state to update the notification letter for positive screens detecting one CFTR mutation, with information reminding providers that CF can occur in infants of all races and ethnicities, with infants of color being at higher risk of delayed diagnosis.
In October 2023, the Foundation issued SIP Award grants to three newborn screening programs across the country, focused on improving access to genetic counseling after a positive screen, improving medical provider and family knowledge of CF newborn screening, and evaluating current processes and areas for improvement. The Foundation will issue 2024 grants later this year.
Dr. Faro continued, “As we continue accelerating toward a cure for cystic fibrosis, we owe it to all the babies yet to be born to improve newborn screening practices. Our goal is to ensure every baby with cystic fibrosis benefits from the progress in the research and care of today and the transformative treatments of tomorrow.”