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Newborn Screening for Cystic Fibrosis Less Accurate in Minorities

Detection of at least one CFTR variant higher in non-Hispanic White people with CF, lowest for Blacks, Asians, Hispanics

MONDAY, Oct. 31, 2022 (HealthDay News) — Cystic fibrosis transmembrane conductance regulator (CFTR) variant panels have lower detection rates when used for newborn screening (NBS) in racial and ethnic-minority groups, according to a study published online Oct. 13 in Pediatric Pulmonology.

Meghan E. McGarry, M.D., from the University of California in San Francisco, and colleagues conducted a cross-sectional analysis of the detection rate of at least one CFTR variant for seven panels by race and ethnicity in genotyped people with CF (PwCF) or CFTR‐related metabolic syndrome (CRMS)/CFTR‐related disorders in the CF Foundation Patient Registry in 2020. The rate of delayed diagnosis or false-negative NBS was compared by race and ethnicity.

The researchers found that detection of at least one CFTR variant was highest in non-Hispanic White PwCF for all panels (87.5 to 97.0 percent) and was lowest for Black, Asian, and Hispanic PwCF (41.9 to 93.1 percent). Black and Asian people with CRMS/CFTR-related disorders had the lowest detection of at least one CFTR variant (48.4 to 64.8 percent). Lower detection rates for all panels were seen in states with increased racial and ethnic diversity. Overall, 3.8 and 11.8 percent of PwCF had false-negative NBS and delayed diagnosis, respectively, with over-representation of Black, Hispanic, and mixed-race PwCF.

“In order for newborn screenings to be equitable, they must include CFTR variant panels that reflect the racial and ethnic diversity of the population,” McGarry said in a statement.

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