Detection of at least one CFTR<\/em> variant higher in non-Hispanic White people with CF, lowest for Blacks, Asians, Hispanics<\/p>\n<\/h3>\n <\/b><\/p>\n <\/b><\/p>\n MONDAY, Oct. 31, 2022 (HealthDay News) — Cystic fibrosis transmembrane conductance regulator (CFTR<\/em>) 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<\/em>.<\/p>\n 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<\/em> 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.<\/p>\n The researchers found that detection of at least one CFTR<\/em> 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<\/em> 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.<\/p>\n “In order for newborn screenings to be equitable, they must include CFTR<\/em> variant panels that reflect the racial and ethnic diversity of the population,” McGarry said in a statement.<\/p>\n