Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

C. Castellani*, H. Cuppens, M. Macek, J. J. Cassiman, E. Kerem, P. Durie, E. Tullis, B. M. Assael, C. Bombieri, A. Brown, T. Casals, M. Claustres, G. R. Cutting, E. Dequeker, J. Dodge, I. Doull, P. Farrell, C. Ferec, E. Girodon, M. JohannessonB. Kerem, M. Knowles, A. Munck, P. F. Pignatti, D. Radojkovic, P. Rizzotti, M. Schwarz, M. Stuhrmann, M. Tzetis, J. Zielenski, J. S. Elborn

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

491 Scopus citations


It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.

Original languageAmerican English
Pages (from-to)179-196
Number of pages18
JournalJournal of Cystic Fibrosis
Issue number3
StatePublished - May 2008

Bibliographical note

Funding Information:
The organizers of the Consensus Conference would like to thank all CF organizations and commercial companies which supported the meeting: UK CF Trust, US CF Foundation, Canadian CF Foundation, Chiesi Farmaceutici, Abbott Diagnostics, Solvay, Nuclear Laser Medicine, Innogenetics, Pheno, AOP Orphan, and Genome Canada through OGI. MM has been supported by VZNFM 00064203.


  • CFTR
  • Cystic fibrosis
  • Diagnosis
  • Genetic analysis
  • Genotype/phenotype correlation


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