Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada

被引：20

作者：

Jain, Puneet ^{[1
]}

Andrade, Danielle ^{[2
]}

Donner, Elizabeth ^{[1
]}

Dyment, David ^{[3
]}

Prasad, Asuri N. ^{[4
,5
]}

Goobie, Sharan ^{[4
,5
]}

Boycott, Kym ^{[3
]}

Lines, Matthew ^{[3
]}

Snead, O. Carter, III ^{[1
]}

机构：

[1] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Neurol,Epilepsy Program, Toronto, ON, Canada

[2] Univ Toronto, Univ Hlth Network, Fac Med, Dept Med Neurol, Toronto, ON, Canada

[3] Univ Ottawa, Childrens Hosp Eastern Ontario, Ottawa, ON, Canada

[4] Western Univ, Childrens Hosp, Dept Pediat, Div Pediat Neurol,London Hlth Sci Ctr, London, ON, Canada

[5] Western Univ, Schulich Sch Med & Dent, London, ON, Canada

来源：

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES | 2019年 / 46卷 / 01期

关键词：

Refractory epilepsy; Next-generation sequencing; Whole-exome sequencing; Genetics; Epilepsy; MICROARRAY; DEFINITION;

D O I：

10.1017/cjn.2018.341

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：7 / 13

页数：7