title: Determining the pathogenicity of genetic variants associated with cardiac channelopathies.
abstract: Advancements in genetic screening have generated massive amounts of data on genetic variation; however, a lack of clear pathogenic stratification has left most variants classified as being of unknown significance. This is a critical limitation for translating genetic data into clinical practice. Genetic screening is currently recommended in the guidelines for diagnosis and treatment of cardiac channelopathies, which are major contributors to sudden cardiac death in young people. We propose to characterize the pathogenicity of genetic variants associated with cardiac channelopathies using a stratified scoring system. The development of this system was considered by using all of the tools currently available to define pathogenicity. The use of this scoring system could help clinicians to understand the limitations of genetic associations with a disease, and help them better define the role that genetics can have in their clinical routine.
authors.affiliation: 1] Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona (IDIBGI) and Universitat de Girona (UdG), Girona, Spain [2] Medical Science Department, School of Medicine, University of Girona, Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona (IDIBGI) and Universitat de Girona (UdG), Girona, Spain.
authors.forename: Catarina
authors.initials: C
authors.lastname: Allegue
authors.affiliation: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona (IDIBGI) and Universitat de Girona (UdG), Girona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Fernandez
authors.affiliation: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona (IDIBGI) and Universitat de Girona (UdG), Girona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.affiliation: 1] Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona (IDIBGI) and Universitat de Girona (UdG), Girona, Spain [2] Medical Science Department, School of Medicine, University of Girona, Girona, Spain [3] Cardiology Service, Hospital Josep Trueta, Girona, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D053840:Brugada Syndrome / Q000235:genetics* / Q000473:pathology; D053447:Channelopathies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016757:Death, Sudden, Cardiac; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans