Campaign seeks to improve CF diagnosis after newborn screening
Diagnosis often missed or delayed, especially in non-white infants, data show
A Chicago children’s hospital is leading an awareness campaign to reduce the missed or delayed diagnosis of cystic fibrosis (CF) after newborn screening, especially in non-white infants.
“Delays in diagnosis of cystic fibrosis increase the risk for severe illness,” Susanna McColley, MD, principal investigator and a pulmonologist at the Ann & Robert H. Lurie Children’s Hospital of Chicago, which is leading the campaign, said in a press release. “Newborn screening tests also can yield false-negative results, particularly in non-White infants, which is important for physicians to recognize.”
“Primary care providers need to be more aware that infants of all racial and ethnic backgrounds can have cystic fibrosis,” said McColley, who is also a professor of pediatrics at Northwestern University Feinberg School of Medicine. “Children’s lives depend on it.”
Campaign seeks to promote early diagnosis and treatment
Dubbed AChieving Equity for Disease prevention in Cystic Fibrosis, the campaign is funded by the Centers for Disease Control and Prevention Chronic Disease Prevention Program. It aims to reduce diagnostic delays by sharing study results and distributing state-specific patient registry data from the Cystic Fibrosis Foundation about care and patient outcomes.
The campaign will first involve primary care providers and public health officials, with the goal of promoting early treatment. The general public will be involved in the second phase, slated to launch within the year.
CF is caused by mutations in the CFTR gene, which codes for a protein of the same name that controls the flow of chloride in and out of cells. As a result, thick and sticky mucus builds up in various organs, including the lungs, digestive tract, and pancreas.
Newborn screening programs for CF seek to detect CFTR mutations early and provide treatment before symptoms arise. Studies suggest that such screening led to better outcomes with diagnosed infants weighing more and growing better throughout childhood than those diagnosed before these programs became available.
According to current recommendations, screening positive for CF should require follow-up within 28 days of birth. Still, one out of eight newborns born with CF between 2010 and 2018 were assessed after two months.
“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,” McColley said.
“Even when the screening test is negative,” McColley noted, “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.”
Research finds Black and Asian children have most prolonged diagnostic delays
Research demonstrates that Black and Asian children have the highest rate of false-negative newborn screening results, meaning they have CF but have tested negative for CFTR mutations. These populations also have the most prolonged diagnostic delays.
“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,” McColley said. “This can delay diagnostic evaluation.”
“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,” she added.
McColley and a team of pediatric CF specialists and public health professionals, funded by a Cystic Fibrosis Foundation grant, initially investigated newborn screening programs and outcomes, leading to six publications. These data provided key information to help primary care providers diagnose CF.
“We provide actionable data to improve timeliness and equity in the diagnosis and treatment of cystic fibrosis through newborn screening,” McColley said.