Inherited channelopathies constitute a group of genetic diseases that may cause severe lead to sudden death. In the recent years, access to genetic testing has been facilitated by the introduction of the next generation sequencing technology (NGS). It has become also clear that cardiac channelopathies are characterized by an extreme genetic heterogeneity. As a consequence, a remarkable proportion of genetic variants cannot be adequately interpreted and are classified as “variants of unknown significance” (VUS); these can reach 20% or more of genetic testing results for some genes. VUS cannot be used for clinical management. Thus, the process of interpretation of the genetic variants is becoming a major clinical problem. In order to overcome this limitation, principal aim of this WG, coordinated by Silvia Priori, based at ICS Maugeri, is to establish a collaborative platform among the Cardiology network Institutes, able to facilitate the annotation of genetic variants according to a standardized set of rules using the backbone of the well-established ACMG (American College of Medical Genetics) guidelines, appropriately modified for channelopathies. We will then generate and make publicly available a database of interpreted genetic variants that will represent a useful tool for laboratories and also for clinicians to support an optimized genotype-based and personalized clinical management.
Prof.ssa Silvia G Priori
POLICLINICO SAN DONATO Carlo Pappone – AUXOLOGICO Lia Crotti – FONDAZIONE CA’ GRANDA Anna Colli – OSPEDALE SAN RAFFAELE Eustachio Agricola – OSPEDALE PEDIATRICO BAMBINO GESU’ Daniela Righi – POLICLINICO SAN MATTEO Eloisa Arbustini- HUMANITAS Gianluigi Condorelli- SAN RAFFAELE PISANA – ISMETT IRCCS Eluisa La Franca – NEUROMED Sergio Fucile – IRCCS OSPEDALE POLICLINICO SAN MARTINO Giuseppe Mascia – ISTITUTO GIANNINA GASLINI Alessandra Siboldi – IRCCS POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS Maria Lucia Narducci