New campaign aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening

Ann & Robert H. Lurie Children's Hospital of Chicago is leading an awareness campaign that aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening, especially in non-White infants. In its first phase, the campaign targets primary care providers and public health officials, so that treatment can start earlier, which is linked to better outcomes for people with cystic fibrosis. The general public phase is expected to follow within the year.

Funded by the Centers for Disease Control and Prevention (CDC) Chronic Disease Prevention Program, the project is called AChieving Equity for Disease prevention in Cystic Fibrosis (ACED-CF). It aims to overcome current delays in initiating treatment for cystic fibrosis by disseminating study findings and distributing state-specific Cystic Fibrosis Foundation Patient Registry data on care processes and patient outcomes.

Cystic fibrosis is a progressive genetic disease that damages multiple organs, including the lungs and pancreas. The disease is caused by variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that lead to insufficient flow of salt and water in and out of cells. In the lungs, this creates thick, sticky mucus buildup that can result in chronic lung infections and severe lung disease. Early nutritional deficits are associated with increased respiratory signs and symptoms, lower pulmonary function and childhood mortality.

Advances in cystic fibrosis diagnosis and treatment have transformed its prognosis from rapid progression and childhood mortality to a chronic multisystem disease of adults with rapidly increasing life expectancy and health span. Newborn screening for cystic fibrosis improves nutrition and survival and has been available throughout the United States since 2010. Pre-symptomatic treatment of cystic fibrosis is the overarching goal of newborn screening. Detection of at least one variant in the CFTR gene defines a positive test and requires immediate follow-up.

It is recommended that infants who screen positive for cystic fibrosis receive their diagnostic evaluation by 28 days of age or earlier. However, one of every eight infants with cystic fibrosis born between 2010 and 2018 were evaluated after 2 months of life.

Delays in diagnosis of cystic fibrosis increase the risk for severe illness. Newborn screening tests also can yield false-negative results, particularly in non-White infants, which is important for physicians to recognize. Even when the screening test is negative, babies with symptoms of cystic fibrosis within the first month of life, such as meconium ileus (a type of bowel obstruction) or poor growth, must be referred for evaluation immediately."

Susanna McColley, MD, Principal Investigator, Pulmonologist at Lurie Children's and Professor of Pediatrics at Northwestern University Feinberg School of Medicine

Among non-White populations, Black and Asian children experience the highest rate of false-negative newborn screening results or delayed diagnosis of cystic fibrosis.

"While race is a social construct, CFTR gene variant distribution differs by race and ethnicity, and people with cystic fibrosis from minoritized groups have more rare variants that are not tested on most state newborn screening panels. This can delay diagnostic evaluation," said Dr. McColley. "Also, medical literature often describes cystic fibrosis as mainly affecting White people, specifically those of northern European ancestry, which may result in bias when interpreting newborn screening results for infants of other racial and ethnic backgrounds. Delays in evaluation and initiation of treatment are associated with more lung disease during the first year of life and poorer growth that persists through early childhood. Primary care providers need to be more aware that infants of all racial and ethnic backgrounds can have cystic fibrosis. Children's lives depend on it."

Funded by a grant from the Cystic Fibrosis Foundation, Dr. McColley and a team of pediatric cystic fibrosis experts and public health professionals evaluated newborn screening processes and outcomes using quantitative and qualitative methods, which led to six publications to date. This data prompted the development of infographic reports to highlight the key takeaways for primary care providers more concisely and engagingly (see luriechildrens.org/CFnewbornscreening). Ongoing research and additional education and engagement efforts are being funded by a grant from The Legacy of Angels Foundation.

"We provide actionable data to improve timeliness and equity in the diagnosis and treatment of cystic fibrosis through newborn screening," said Dr. McColley.