Molecular genetic technology in cystic fibrosis: implications for nursing practice

Cystic fibrosis (CF) is an inherited disorder occurring in 1 in 2,500 Caucasians of Northern European descent (which will be referred to as "white Americans" hereafter). One in 25 white Americans carries a single mutation of the CF gene. Recent molecular genetic breakthroughs have led to the localization of the gene on chromosome 7. Specific gene mutations have been identified in approximately 80% of individuals with this disorder. These new breakthroughs allow for the accurate identification of individuals affected with this disorder and of approximately 90% of individuals who carry the gene that causes this disorder. Nurses must become familiar with these molecular genetic technologies and their implications for nursing practice. They must be able to identify individuals who can benefit from genetic testing, communicate effectively regarding the risks and benefits of this testing, and support them once results become available. Genetic testing for CF is the first of many such tests that will become available in the future. How nurses deal with CF testing will serve as the model for future, similar testing programs.