Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada

Canadian Journal of Neurological Sciences - Tập 46 Số 1 - Trang 7-13 - 2019
Puneet Jain1, Danielle M. Andrade2, Elizabeth Donner1, David A. Dyment3, Asuri N. Prasad4, Sharan Goobie4, Kym M. Boycott3, Matthew A. Lines3, O. Carter Snead1
1Epilepsy Program, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
2Department of Medicine (Neurology), University Health Network, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada
3Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada
4Division of Pediatric Neurology, Department of Pediatrics, Children's Hospital, London Health Sciences Center& Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada

Tóm tắt

AbstractMultiple 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.

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Canadian Journal of Neurological Sciences

Tập 46 Số 1

7-13

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