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

@article{citeulike:2789535, 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. 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.}, address = {Cystic Fibrosis Centre, Ospedale Civile Maggiore, Verona, Italy.}, author = {Castellani, C and Cuppens, H and Macek, M and Cassiman, J J J. and Kerem, E and Durie, P and Tullis, E and Assael, B M M. and Bombieri, C and Brown, A and Casals, T and Claustres, M and Cutting, G R R. and Dequeker, E and Dodge, J and Doull, I and Farrell, P and Ferec, C and Girodon, E and Johannesson, M and Kerem, B and Knowles, M and Munck, A and Pignatti, P F F. and Radojkovic, D and Rizzotti, P and Schwarz, M and Stuhrmann, M and Tzetis, M and Zielenski, J and Elborn, J S S. }, citeulike-article-id = {2789535}, doi = {10.1016/j.jcf.2008.03.009}, issn = {1569-1993}, journal = {Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society}, keywords = {cf}, month = {May}, posted-at = {2008-05-12 15:03:25}, priority = {3}, title = {Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.}, url = {http://dx.doi.org/10.1016/j.jcf.2008.03.009}, year = {2008} }

TY - JOUR ID - citeulike:2789535 L3 - citeulike-article-id:2789535 TI - Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. JF - Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society AD - Cystic Fibrosis Centre, Ospedale Civile Maggiore, Verona, Italy. SN - 1569-1993 N2 - 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. KW - cf AU - Castellani, C AU - Cuppens, H AU - Macek, M AU - Cassiman, J J AU - Kerem, E AU - Durie, P AU - Tullis, E AU - Assael, B M AU - Bombieri, C AU - Brown, A AU - Casals, T AU - Claustres, M AU - Cutting, G R AU - Dequeker, E AU - Dodge, J AU - Doull, I AU - Farrell, P AU - Ferec, C AU - Girodon, E AU - Johannesson, M AU - Kerem, B AU - Knowles, M AU - Munck, A AU - Pignatti, P F AU - Radojkovic, D AU - Rizzotti, P AU - Schwarz, M AU - Stuhrmann, M AU - Tzetis, M AU - Zielenski, J AU - Elborn, J S PY - 2008/05/03/ UR - http://dx.doi.org/10.1016/j.jcf.2008.03.009 ER -