Children’s Healthcare of Atlanta pulmonologists Rachel Linnemann, MD, and Brittany Truitt, MD, recently published research resulting in improvements in Georgia’s statewide newborn screening (NBS) process for cystic fibrosis (CF) 

“This project has led to multiple changes at the state level in CF NBS follow-up processes with the goal of improving timely diagnosis,” said Dr. Linnemann

In the first study, Drs. Linnemann and Truitt characterized children with CF born in Georgia who were missed by NBS or had delayed diagnosis despite positive NBS. Nearly 5% of children with CF had a false negative NBS, and most delayed diagnoses were related to challenges with sweat testing. They furthermore found that minoritized children make up 43% of missed and 44% of delayed diagnoses, making Black and Hispanic infants at higher risk compared to non-Hispanic White infants. Their findings were recently published in the International Journal of Neonatal Screening.

 In a second related study, the duo examined CF transmembrane conductance regulator (CFTR) gene variant frequencies and NBS genetic test performance for people with CF currently receiving care in Georgia. Compared to Georgia's current 39 variant panel, they found that larger variant panels would improve case detection and timeliness of diagnosis due to increased detection of two gene variants. These findings were also recently published in the International Journal of Neonatal Screening 

“Based on our study data, the Georgia Newborn Screening Advisory Committee recommended to the Georgia Department of Public Health the implementation of a floating immunoreactive trypsinogen (IRT) cut-off and an expanded CF transmembrane conductance regulator (CFTR) assay for CF NBS in the state,” Dr. Linnemann explained. “These changes are expected to improve equity in CF newborn screening. Evaluation of the feasibility and funding required for implementation is under consideration by the Georgia Department of Public Health.”

 Cystic fibrosis is a genetic disease that affects the lungs and digestive system by making fluids and mucus thick and sticky. This causes persistent lung infections that progressively limit the ability to breathe. Children with CF also suffer from digestive problems that prevent their bodies from breaking down and absorbing food, leading to inadequate growth and nutrition. Research collaborators for the studies included Augusta University, the Georgia Department of Public Health, the Georgia Public Health Laboratory, and the Emory Newborn Screening Follow-up Program.