The Role of Genetic Testing for Inherited Arrhythmia Syndromes in the Era of Next Generation Sequencer

The next generation sequencer (NGS) is no longer a sequencing system for the next generation. Now, we can obtain our data of whole genome sequencing by NGS and apply it for the risk stratification, diagnosis, or the selection of therapeutic agent in various diseases. In inherited arrhythmia syndromes, it was a laborious task to perform genetic testing only for long QT syndrome (LQTS) by Sanger methods just a decade ago. Now, we can complete the testing including tens or hundreds of genes within a few weeks after the advent of NGS. Genetic testing using NGS for inherited arrhythmia syndromes is supported by public insurance in many countries. In Japan, however, only LQTS is within national health insurance, and only one company offers the service of genetic testing. Regarding to other inherited arrhythmias, for example, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome or arrhythmogenic right ventricular cardiomyopathy, many causative genes have been identified and curated by ClinGen system. The usefulness of genetic testing for cascade screening or risk stratification has been established in these arrhythmias. Although genetic testing in theses arrythmias is performed in the research level, fewer patients and doctors than expected can access to the services in Japan. In this session, we try to discuss the role of genetic testing for inherited arrhythmia syndromes from the real world of clinical aspects to the research level targeting the development of new therapy.