Genetics and cystic fibrosis: a focus on carrier testing

Janet K. Williams, University of Iowa


Identification of mutations in the cystic fibrosis (CF) gene makes is possible to offer carrier testing for family members of people with CF. However, this may also be used for more controversial purpose such as the carrier testing of minors, inclusion of CF testing in newborn screening, and screening for the CF gene in adults in the general public. Pediatric nurses provide information, advocacy referral, and psychosocial support for people who want to learn more about the genetic aspects of cystic fibrosis.