Consensus 2019 per l’analisi genetica in Fibrosi Cistica: presentazione del Documento

Lucarelli M.

;Angioni A.;Baffico M.;Bombieri C.;Bonizzato A.;Borgo G.;Castaldo G.;Castellani C.;Centrone C.;Coiana A.

Member of the Collaboration Group

;D'Apice M. R.;Girgenti C. D.;Egiziano S.;Favarato M.;Ferlisi A.;Melotti P.;Minicucci L.;Pelo E.;Ragusa A.;Ravani A.;Savoldi G.;Seia M.;Termini L.

2020-01-01

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Abstract

The causative gene of Cystic Fibrosis (CF) is the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). Although monogenic, CF has a complex genotype - phenotype relationship mainly originated by the high number of CFTR variants, the challenging mutational analysis, the incomplete functional knowledge and the variable clinical outcome of most variants, the action of modifier genes. This complexity affects diagnosis, prognosis and precision therapy. A correct and complete genetic analysis is crucial for all these aspects. The Consensus Document 2019 on the genetic analysis of CF (1S) provides a guidance to practitioners for the appropriate request and proper use of genetic testing in CF, as well as for the correct interpretation of the test result. It is to be hoped that the broad sharing achieved between the scientific societies involved can standardize the approach at national level and can improve the usefulness of the information provided to users, as part of a continuous process of improvement.