Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned

Philip M. Farrell, Terry B. White, Nico Derichs, Carlo Castellani, Beryl J. Rosenstein

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Objective Because cystic fibrosis (CF) can be difficult to diagnose, and because information about the genetic complexities and pathologic basis of the disease has grown so rapidly over the decades, several consensus conferences have been held by the US CF Foundation, and a variety of other efforts to improve diagnostic practices have been organized by the European CF Society. Despite these efforts, the application of diagnostic criteria has been variable and caused confusion. Study design To improve diagnosis and achieve standardization in terms and definitions worldwide, the CF Foundation in 2015 convened a committee of 32 experts in the diagnosis of CF from 9 countries. As part of the process, all previous consensus-seeking exercises sponsored by the CF Foundation, along with the important efforts of the European CF Society, were comprehensively and critically reviewed. The goal was to better understand why consensus conferences and their publications have not led to the desired results. Results Lessons learned from previous diagnosis consensus processes and products were identified. It was decided that participation in developing a consensus was generally not inclusive enough for global impact. It was also found that many efforts to address sweat test issues were valuable but did not always improve clinical practices as CF diagnostic testing evolved. It also became clear from this review that premature applications of potential diagnostic tests such as nasal potential difference and intestinal current measurement should be avoided until validation and standardization occur. Finally, we have learned that due to the significant and growing number of cases that are challenging to diagnose, an associated continuing medical education program is both desirable and necessary. Conclusions It is necessary but not sufficient to organize and publish CF diagnosis consensus processes. Follow-up implementation efforts and monitoring practices seem essential.

Original languageEnglish (US)
Pages (from-to)S16-S26
JournalJournal of Pediatrics
StatePublished - Feb 1 2017


  • CF screen positive
  • CFTR
  • CFTR-related metabolic syndrome
  • CRMS
  • ICD-10
  • ICM
  • IRT
  • immunoreactive trypsinogen
  • inconclusive diagnosis
  • intestinal current measurement
  • nasal potential difference
  • newborn screening
  • sweat test

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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