Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis

Carlo Castellani, Nicholas J Simmonds, Jürg Barben, Charlotte Addy, Amanda Bevan, Pierre-Régis Burgel, Pavel Drevinek, Silvia Gartner, Andrea Gramegna, Elise Lammertyn, Eddie Edwina C Landau, Peter G Middleton, Barry J Plant, Alan R Smyth, Silke van Koningsbruggen-Rietschel, Emmanuelle Girodon, Nataliya Kashirskaya, Anne Munck, Lutz Nährlich, Karen RaraighIsabelle Sermet-Gaudelus, Olaf Sommerburg, Kevin W Southern

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.
Original languageEnglish
JournalJournal of Cystic Fibrosis
Early online date27 Sept 2023
Publication statusPublished - 27 Sept 2023


  • Extended Gene Analysis (EGA)
  • Cystic fibrosis
  • CFTR-related disorder
  • Newborn Bloodspot Screening (NBS)
  • CFTR


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