Epilepsy Program, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Department of Medicine (Neurology), University Health Network, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Can J Neurol Sci. 2019 Jan;46(1):7-13. doi: 10.1017/cjn.2018.341. Epub 2018 Nov 13.
Multiple genes/variants have been implicated in various epileptic conditions. However, there is little general guidance available on the circumstances in which genetic testing is indicated and test selection in order to guide optimal test appropriateness and benefit. This is an account of the development of guidelines for genetic testing in epilepsy, which have been developed in Ontario, Canada. The Genetic Testing Advisory Committee was established in Ontario to review the clinical utility and validity of genetic tests and the provision of genetic testing in Ontario. As part of their mandate, the committee also developed recommendations and guidelines for genetic testing in epilepsy. The recommendations include mandatory prerequisites for an epileptology/geneticist/clinical biochemical geneticist consultation, prerequisite diagnostic procedures, circumstances in which genetic testing is indicated and not indicated and guidance for selection of genetic tests, including their general limitations and considerations. These guidelines represent a step toward the development of evidence-based gene panels for epilepsy in Ontario, the repatriation of genetic testing for epilepsy into Ontario molecular genetic laboratories and public funding of genetic tests for epilepsy in Ontario.
多种基因/变异与各种癫痫病症有关。然而，关于基因检测指征和检测选择的指导意见很少，无法指导基因检测的恰当性和获益。本研究旨在制定加拿大安大略省癫痫基因检测指南，该指南是在安大略省开发的。安大略省成立了基因检测咨询委员会，以审查基因检测的临床效用和有效性，以及安大略省的基因检测服务。作为其任务的一部分，委员会还制定了癫痫基因检测的建议和指南。这些建议包括癫痫学家/遗传学家/临床生化遗传学家咨询的强制性前提条件、前提诊断程序、基因检测指征和不指征的情况，以及基因检测选择的指导意见，包括其一般局限性和考虑因素。这些指南是在安大略省开发基于证据的癫痫基因检测试剂盒、将癫痫基因检测送回安大略省分子遗传学实验室，以及为安大略省癫痫基因检测提供公共资金方面迈出的一步。
