CFTR gene variants in Dominicans and Puerto Ricans

CFTR gene variants in Dominicans and Puerto Ricans

NIMHD-Funded Study Identifies CFTR Variants in Latino Patients With Cystic Fibrosis

A study published in Pediatric Pulmonology highlights the importance of understanding the spectrum and frequency of CFTR variants in diverse populations in order to improve CF genetic panels and newborn screening programs. These panels and screening programs are generally developed based on variant frequencies observed in the White population and have a higher false negative rate when applied to a Latino population.

To minimize false negatives, the study calls for genetic and newborn screenings to be sensitive to the target population and to include the prevalent CFTR variants for all racial and ethnic groups.