Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
M. Knowles, H. Cuppens, B. Kerem, M. Claustres, J. Dodge, P. Rizzotti, I. Doull, M. Schwarz, J.J. Cassiman, E. Dequeker, T. Casals, M. Macek, C. Bombieri, M. Johannesson, P. Durie, Manfred Stuhrmann, C. Castellani, J.S. Elborn, C. Ferec, J. Zielenski, E. Kerem, B.M. Assael, P.F. Pignatti, P. Farrell, E. Girodon, A. Brown, M. Tzetis, D. Radojkovic, G.R. Cutting, A. Munck, E. Tullis
Abstract
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.