BACKGROUND: Cystic fibrosis (CF) is a complex autosomal recessive disease that 
continues to present unique diagnostic challenges. Because CF was first 
described in 1938, there has been a substantial growth of genetic and phenotypic 
information about the disorder. During the past few years, as more evidence has 
become available, a consortium of international experts determined that the 2008 
guidelines from the CF Foundation needed to be reviewed and updated.
CONTENT: The goal of this review is to highlight the latest advances in CF 
multidisciplinary care, together with the recent updates to the 2017 CF 
Foundation diagnostic guidelines.
SUMMARY: Data from newborn screening programs, patient registries, clinical 
databases, and functional research have led to a better understanding of the CF 
transmembrane conductance regulator (CFTR) gene. Recent consensus guidelines 
have provided recommendations for clinicians and laboratorians to better assist 
with interpretation of disease status and related CF mutations. The highly 
recommended Clinical and Functional Translation of CFTR project should be the 
first resource in the evaluation of disease severity for CF mutations. 
Screen-positive newborns and patients with high clinical suspicion for CF are 
always recommended to undergo confirmatory sweat chloride testing with 
interpretations based on updated reference intervals. Every patient diagnosed 
with CF should receive genotyping, as novel molecular therapies are becoming 
standard of practice. The future of CF management must consider healthcare 
system disparities as CF transitions from a historically childhood disease to a 
predominantly adult epidemic.