{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T21:48:29Z","timestamp":1793828909174,"version":"4.6.1"},"reference-count":47,"publisher":"American Medical Association (AMA)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Neurol"],"published-print":{"date-parts":[[2022,12,1]]},"abstract":"<jats:sec id=\"ab-noi220068-4\"><jats:title>Importance<\/jats:title><jats:p>It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.<\/jats:p><\/jats:sec><jats:sec id=\"ab-noi220068-5\"><jats:title>Objective<\/jats:title><jats:p>To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.<\/jats:p><\/jats:sec><jats:sec id=\"ab-noi220068-6\"><jats:title>Design, Setting, and Participants<\/jats:title><jats:p>This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic\/likely pathogenic (P\/LP) variant were included in the study. Case report forms were completed by all health care professionals.<\/jats:p><\/jats:sec><jats:sec id=\"ab-noi220068-7\"><jats:title>Exposures<\/jats:title><jats:p>Genetic test results.<\/jats:p><\/jats:sec><jats:sec id=\"ab-noi220068-8\"><jats:title>Main Outcomes and Measures<\/jats:title><jats:p>Clinical management changes after a genetic diagnosis (ie, 1 P\/LP variant in autosomal dominant and X-linked diseases; 2 P\/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms.<\/jats:p><\/jats:sec><jats:sec id=\"ab-noi220068-9\"><jats:title>Results<\/jats:title><jats:p>Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595\u2009(368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584\u2009[365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%).<\/jats:p><\/jats:sec><jats:sec id=\"ab-noi220068-10\"><jats:title>Conclusions and Relevance<\/jats:title><jats:p>Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamaneurol.2022.3651","type":"journal-article","created":{"date-parts":[[2022,10,31]],"date-time":"2022-10-31T15:33:26Z","timestamp":1667230406000},"page":"1267","source":"Crossref","is-referenced-by-count":94,"title":["Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice"],"prefix":"10.1001","volume":"79","author":[{"given":"Dianalee","family":"McKnight","sequence":"first","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Morales","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn E.","family":"Hatchell","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara L.","family":"Bristow","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua L.","family":"Bonkowsky","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City"},{"name":"Center for Personalized Medicine, Primary Children\u2019s Hospital, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael Scott","family":"Perry","sequence":"additional","affiliation":[{"name":"Jane and John Justin Neuroscience Center, Cook Children\u2019s Medical Center, Fort Worth, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne T.","family":"Berg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Northwestern University\u2014Feinberg School of Medicine, Chicago, Illinois"},{"name":"COMBINEDBrain, Brentwood, Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felippe","family":"Borlot","sequence":"additional","affiliation":[{"name":"Section of Neurology, Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada"},{"name":"Alberta Children\u2019s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward D.","family":"Esplin","sequence":"additional","affiliation":[{"name":"Invitae, San 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