Study Finds Cystic Fibrosis In Babies From A Minority Group Often Goes Untreated Longer

Infants from racial and ethnic minorities who have positive screening tests for cystic fibrosis are more likely to receive delayed diagnosis and treatment than white, non-Hispanic infants, according to a new study published in the Journal of Cystic Fibrosis. Cystic fibrosis is a genetic disease that causes multiple organ damage, namely in the lungs and pancreas, according to HealthDay News. The disease can lead to an inadequate flow of salt and water in the cells, which can cause a buildup of mucus in the lungs. This buildup can result in chronic lung infections and even severe lung disease.

The study found that infants who were Black, Hispanic, Asian, or Native American received a follow-up evaluation by 31 days of age, while white infants received a diagnostic follow-up by 22 days of age. Generally speaking, it is recommended that infants, who have a positive screening for cystic fibrosis, receive a further evaluation by 28 days of age.

Delayed evaluation can lead to disparate health outcomes

As a result, this delay in evaluation can lead to gaps and racial disparities in care and health outcomes for infants with cystic fibrosis (per recent study). In fact, researchers found that this delay in diagnosis and treatment was associated with poor nutritional outcomes and may be linked to previously recorded health disparities in people with cystic fibrosis (via Ann & Robert H. Lurie Children's Hospital of Chicago). A pulmonologist at Ann & Robert H. Lurie Children's Hospital of Chicago and the study's lead author, Dr. Susanna McColley, said in a news release that, although race is a social construct, the distribution of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene can vary by race and ethnicity.

"People with cystic fibrosis from minoritized groups have more rare variants," McColley said. "This can mean less than two variants are found on newborn screening...raising less clinical concern and delay diagnostic evaluation." In addition, many medical textbooks still describe cystic fibrosis as a disease that mostly affects white people of European descent, which can lead to bias when interpreting the screening results of non-white infants. Prompt evaluation is crucial when diagnosing cystic fibrosis, however, researchers are advocating for higher quality diagnostic tools and evaluations so the initiation of care for all infants with cystic fibrosis is equal, regardless of race or ethnicity.