Lurie Children’s Hospital Engages Parents and PCPs to Increase Early Detection of Cystic Fibrosis

Project supported by The Legacy of Angels Foundation

Ann & Robert H. Lurie Children’s Hospital of Chicago received funding from The Legacy of Angels Foundation for a project that aims to increase early detection of cystic fibrosis and improve access to prompt treatment by engaging parents and primary care providers. The Legacy of Angels Foundation focuses on improving children's lives by promoting the expansion of newborn screening and furthering education, awareness, and research of Krabbe disease and cystic fibrosis to provide better treatment and a cure.

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 buildup of thick, sticky mucus 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.

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. It is recommended that infants who screen positive for cystic fibrosis receive their diagnostic evaluation by 28 days of age. However, many babies, especially those from racial and ethnic minoritized groups, have delays in diagnosis that puts them at risk for severe illness.

“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, which can delay diagnostic evaluation,” said Principal Investigator Susanna McColley, MD, pulmonologist at Lurie Children’s and Professor of Pediatrics at Northwestern University Feinberg School of Medicine. “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, leading to delays in evaluation and initiation of treatment.”

To gain deeper insight into what drives delays in cystic fibrosis diagnosis, Dr. McColley and colleagues are conducting two confidential surveys of parents. The first survey, launched in March 2023, aims to hear from parents of children with cystic fibrosis about their experiences with the newborn screening test, diagnosis and treatment. These parents will be reached through the Cystic Fibrosis Foundation, the National Organization of African Americans with Cystic Fibrosis and the Center for Latinos with Cystic Fibrosis.

“There also is limited information on what parents from the general population know about newborn screening, and about cystic fibrosis, which could affect the timeliness of follow-up of infants who have an abnormal newborn screening test for cystic fibrosis,” said Dr. McColley. “We just launched a survey of a large group of parents from the general population to better understand this.”

Based on the survey results from both general population parents and parents of children with cystic fibrosis, Dr. McColley and colleagues will create public awareness campaign materials, then test them in focus groups. The campaign targeting prospective parents, pregnant women and current parents will emphasize the importance of rapid follow-up testing after an abnormal newborn screening test for cystic fibrosis.

In addition to engaging parents in efforts to reduce delays in diagnosis, Dr. McColley’s team will create continuing medical education materials for primary care providers.

“Primary care providers need to be more aware that infants of all racial and ethnic backgrounds can have cystic fibrosis,” said Dr. McColley. “Timely referrals for diagnostic evaluation of all infants with an out-of-range newborn screening test for cystic fibrosis are absolutely critical. Children’s lives depend on it.”

Research at Ann & Robert H. Lurie Children’s Hospital of Chicago is conducted through Stanley Manne Children’s Research Institute. The Manne Research Institute is focused on improving child health, transforming pediatric medicine and ensuring healthier futures through the relentless pursuit of knowledge. Lurie Children’s is a nonprofit organization committed to providing access to exceptional care for every child. It is ranked as one of the nation’s top children’s hospitals by U.S. News & World Report. Lurie Children’s is the pediatric training ground for Northwestern University Feinberg School of Medicine.