New Cystic Fibrosis Guidelines Promise Improved Diagnosis in Newborns

April 2, 2025 – New recommendations for cystic fibrosis screening in newborns aim to improve diagnosis and outcomes for infants with the disorder. Despite all babies in the U.S. receiving newborn screening for cystic fibrosis since 2010, this is the first guideline to improve the timeliness, sensitivity and breadth of diagnoses in all infants with cystic fibrosis by newborn screening. Findings led by first author Meghan McGarry, MD, MAS, at Seattle Children’s Research Institute’s Center for Respiratory Biology and Therapeutics are published in the International Journal of Neonatal Screening.

Newborn screening is an important step in infant health, as these tests aim to detect serious, but often rare, health conditions in newborns that might not be apparent at birth. Early detection allows for timely intervention and treatment for a wide variety of diseases, including cystic fibrosis.

A chronic and potentially life-threatening disorder, cystic fibrosis is an inherited condition that causes the mucus lining the lungs and throat to become thick and sticky. The earlier a child is diagnosed with this condition, the better their long-term outcomes.

As vital as newborn screenings are to timely cystic fibrosis diagnoses, Dr. McGarry found notable differences in how they are conducted state by state.

“Some states test for a wider range of genetic variants, while others test for a smaller number that do not include variants seen in all populations and ancestries,” Dr. McGarry said. “This variance in testing could lead to delayed diagnosis and care, especially in communities where cystic fibrosis is under-recognized.”

These variances point to gaps in resources and knowledge, with current genetic tests largely based on older clinical trials referencing thresholds seen in majority European populations. In other instances, financial constraints make testing for a wider range of genetic mutations difficult, but recent advancements have made genetic sequencing more affordable. Early diagnosis of cystic fibrosis leads to long term savings as children are healthier and less likely to need frequent hospitalizations.

Cystic fibrosis affects nearly 40,000 Americans, 17% of whom have a diverse ethnic background. In her time as a pediatric pulmonologist, Dr. McGarry has seen health disparities resulting from a larger group of cystic fibrosis patients who slip through undetected. With these new standardized guidelines, she hopes to increase the number of newborns diagnosed.

One recommendation proposes expanding the gene variants tested from a limited panel of 40 to over 500. Another outlines improving communication between patients, care teams and providers, suggesting a standardized plan to share test results and cystic fibrosis education with families in a timely and culturally sensitive manner.

In partnership with the Cystic Fibrosis Foundation, Dr. McGarry is working to implement these recommendations across states and clinical teams. The impact of this work may improve diagnosis in the United States and globally.

“Our hope is that all babies with cystic fibrosis will have early diagnosis and treatment so they can live a long, fulfilling life without limitations from their disease” Dr. McGarry said.

This research was funded by the Cystic Fibrosis Foundation.

– Empress Rivera-Ruiz