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 in Pediatric Pulmonology.
Meghan E. McGarry, MD, from the University of California in San Francisco, and colleagues conducted a cross-sectional analysis of the detection rate of at least 1 CFTR variant for 7 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 1 CFTR variant was highest in non-Hispanic White PwCF for all panels (87.5% to 97%) and was lowest for Black, Asian, and Hispanic PwCF (41.9% to 93.1%). Black and Asian people with CRMS/CFTR-related disorders had the lowest detection of at least 1 CFTR variant (48.4% to 64.8%). Lower detection rates for all panels were seen in states with increased racial and ethnic diversity. Overall, 3.8% and 11.8% 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.