Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

Pathogenic variants in the CFTR gene are causative of cystic fibrosis (CF) as well as CF-related disorders, such as isolated congenital bilateral absence of the vas deferens (CBAVD). In 2001, several professional organizations joined in acknowledging the importance and technologic advances that would make CF amenable to population-based carrier screening.1 However, the technology and knowledge had not advanced far enough to allow for an equitable application. Variant databases were far less advanced when compared with those that are easily and widely accessible today.