{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T19:34:17Z","timestamp":1769801657481,"version":"3.49.0"},"reference-count":35,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec id=\"S0317167125000691_as1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Epilepsy is a relatively common condition that affects approximately 4\u20135 per 1000 individuals in Ontario, Canada. While genetic testing is now prevalent in diagnostic and therapeutic care plans, optimal test selection and interpretation of results in a patient-specific context can be inconsistent and provider dependent.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0317167125000691_as2\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>The first of its kind, the Ontario Epilepsy Genetic Testing Program (OEGTP) was launched in 2020 to develop clinical testing criteria, curate gene content, standardize the technical testing criteria through a centralized testing laboratory, assess diagnostic yield and clinical utility and increase genetics literacy among providers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0317167125000691_as3\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Here we present the results of the first two years of the program, demonstrating the overall 20.8% diagnostic yield including pathogenic sequence and copy number variation detected by next-generation sequencing panels. Routine follow-up testing of family members enabled the resolution of ambiguous findings. Post-test outcomes were collected as reported by the ordering clinicians, highlighting the clinical benefits of genetic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0317167125000691_as4\">\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This programmatic approach to genetic testing in epilepsy by OEGTP, together with engagement of clinical and laboratory stakeholders, provided a unique opportunity to gather insight into province-wide implementation of a genetic testing program.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1017\/cjn.2025.69","type":"journal-article","created":{"date-parts":[[2025,4,13]],"date-time":"2025-04-13T22:03:16Z","timestamp":1744581796000},"page":"24-35","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program"],"prefix":"10.1017","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5409-8387","authenticated-orcid":false,"given":"Tugce B.","family":"Balci","sequence":"first","affiliation":[{"name":"Western University"},{"name":"London Health Sciences Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4980-7484","authenticated-orcid":false,"given":"Laila C.","family":"Schenkel","sequence":"additional","affiliation":[{"name":"London Health Sciences Centre"},{"name":"Western University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cassandra","family":"Rastin","sequence":"additional","affiliation":[{"name":"London Health Sciences Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2358-8308","authenticated-orcid":false,"given":"Kevin","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Department of Pediatrics McMaster University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lysa","family":"Boiss\u00e9 Lomax","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Medicine Queen\u2019s University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Turowec","sequence":"additional","affiliation":[{"name":"London Health Sciences Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Kerkhof","sequence":"additional","affiliation":[{"name":"London Health Sciences Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratibha","family":"Bhai","sequence":"additional","affiliation":[{"name":"London Health Sciences Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Jarinova","sequence":"additional","affiliation":[{"name":"University of Ottawa"},{"name":"CHEO"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacy","family":"Hewson","sequence":"additional","affiliation":[{"name":"University of Toronto"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6057-1038","authenticated-orcid":false,"given":"A. Narayan","family":"Prasad","sequence":"additional","affiliation":[{"name":"Western University London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"O. Carter","family":"Snead","sequence":"additional","affiliation":[{"name":"University of Toronto"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Dyment","sequence":"additional","affiliation":[{"name":"University of Ottawa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[{"name":"London Health Sciences Centre"},{"name":"Western University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2025,4,14]]},"reference":[{"key":"S0317167125000691_ref34","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.186"},{"key":"S0317167125000691_ref13","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2018.341"},{"key":"S0317167125000691_ref28","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106641"},{"key":"S0317167125000691_ref27","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61998"},{"key":"S0317167125000691_ref35","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-50159-6"},{"key":"S0317167125000691_ref20","doi-asserted-by":"publisher","DOI":"10.1159\/000448369"},{"key":"S0317167125000691_ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2015.02.011"},{"key":"S0317167125000691_ref26","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.698595"},{"key":"S0317167125000691_ref10","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2020.167"},{"key":"S0317167125000691_ref11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23632"},{"key":"S0317167125000691_ref25","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007503"},{"key":"S0317167125000691_ref18","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"S0317167125000691_ref24","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01242-6"},{"key":"S0317167125000691_ref30","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17262"},{"key":"S0317167125000691_ref33","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13596"},{"key":"S0317167125000691_ref31","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12303"},{"key":"S0317167125000691_ref14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1009370"},{"key":"S0317167125000691_ref23","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"S0317167125000691_ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-015-0214-7"},{"key":"S0317167125000691_ref29","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814531822"},{"key":"S0317167125000691_ref9","doi-asserted-by":"publisher","DOI":"10.3390\/genes13050872"},{"key":"S0317167125000691_ref21","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2646"},{"key":"S0317167125000691_ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2023.10.014"},{"key":"S0317167125000691_ref12","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2019.304"},{"key":"S0317167125000691_ref7","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17141"},{"key":"S0317167125000691_ref32","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12984"},{"key":"S0317167125000691_ref19","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12954"},{"key":"S0317167125000691_ref2","unstructured":"2. Ng, R , Maxwell, CJ , Yates, EA , et al. Brain disorders in Ontario: prevalence, incidence and costs from health administrative data. Institute for Clinical Evaluative Sciences. 2015."},{"key":"S0317167125000691_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2019.08.016"},{"key":"S0317167125000691_ref15","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2023.2245747"},{"key":"S0317167125000691_ref3","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13414"},{"key":"S0317167125000691_ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.04.002"},{"key":"S0317167125000691_ref17","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/j.jmoldx.2017.07.004","article-title":"Clinical validation of copy number variant detection from targeted next-generation sequencing panels","volume":"19","author":"Kerkhof","year":"2017","journal-title":"J Mol Diagn"},{"key":"S0317167125000691_ref1","first-page":"1","article-title":"Epilepsy care in Ontario: an economic analysis of increasing access to epilepsy surgery","volume":"12","author":"Bowen","year":"2012","journal-title":"Ont Health Technol Assess Ser"},{"key":"S0317167125000691_ref5","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00434"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167125000691","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T08:31:46Z","timestamp":1769761906000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167125000691\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,14]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["S0317167125000691"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2025.69","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,14]]}}}