Non-white newborns with cystic fibrosis more likely to be missed in screening

Researchers call for better newborn screens across the U.S.

Cystic fibrosis is missed more often in newborn screenings for non-white than white babies, creating higher risk for irreversible lung damage and other serious outcomes in Black, Hispanic, Asian, American Indian and Alaska Native newborns, a new study finds.

The genetic panels used in newborn screening programs vary by state, but most tend to test for cystic fibrosis gene mutations that are common in white populations while excluding mutations more common in non-white populations, said Meghan McGarry, MD, associate professor of pediatrics at UC San Francisco (UCSF) Benioff Children’s Hospitals and first author of the study, publishing today in Pediatric Pulmonology.

“Newborn screenings are meant to be a public health measure that is equal across populations, but in practice, we are actually creating disparities because children of color are going undiagnosed for cystic fibrosis until an older age,” McGarry said. “That means they are treated later when symptoms occur, and their outcomes are often worse.”

Cystic fibrosis is one of the most common genetic disorders, with about 1,000 new cases diagnosed each year. The disease causes the malfunction of a protein that helps regulate mucus, which can lead to blockages and trapped germs and eventually, infections such as bronchitis and pneumonia. Early diagnosis and treatment can reduce severe symptoms, such as failure to thrive, and is associated with improved nutrition, better pulmonary outcomes, and survival.

Better Screenings Needed

To determine case detection rates, researchers analyzed the genetic mutations of 46,729 people in the 2020 Cystic Fibrosis Foundation Patient Registry, then calculated the rate of delayed diagnosis or false-negative tests by race and ethnicity. They also compared data across states.

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