Dec 6, 2022 - World

Altering newborn cystic fibrosis test could improve diagnoses, study shows

A scan showing cystic fibrosis

An MRI of lungs affected by cystic fibrosis, which causes mucus buildup. Photo: James Cavallini/BSIP/Universal Images Group via Getty Images

It's more likely that tests for cystic fibrosis will miss the disease when screening Black, Hispanic and Asian newborns because of the limited gene variants used to detect the disorder, a recent study shows.

Why it matters: If a CF diagnosis is delayed, treatments start later, which can increase the chances of death.

  • The progressive disease has already been found to be deadlier for Latinos than non-Hispanic white people when they are diagnosed at the same age.

By the numbers: 9.8% of people with CF in the U.S. identify as Hispanic and 3.5% are Black, according to the latest patient registry from the Cystic Fibrosis Foundation.

The big picture: Existing treatments, based on specific mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene, are less likely to work on Black and Hispanic patients, according to a peer-reviewed paper published last year.

  • Studies have recorded underrepresentation of Latino, Asian and Black patients in CF clinical trials and genetic research.

What they're saying: The authors of the study, published in Pediatric Pulmonology in October, are calling on states to join California, New York and Wisconsin in analyzing additional genetic variations to help avoid misdiagnosis. All 50 states screen newborns for CF and other genetic disorders.

  • "As the US demographics continue to evolve, missed cases due to variant panels in (newborn screening) will become an issue even in states that currently have homogenous populations," the authors wrote.

Of note: The campaign We Are the Extended CF Familia/Somos La Gran Familia FQ, launched this year, offers community support, materials in Spanish and help for people who think they've been misdiagnosed.

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