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- Title
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
- Authors
McKnight, Dianalee; Morales, Ana; Hatchell, Kathryn E.; Bristow, Sara L.; Bonkowsky, Joshua L.; Perry, Michael Scott; Berg, Anne T.; Borlot, Felippe; Esplin, Edward D.; Moretz, Chad; Angione, Katie; Ríos-Pohl, Loreto; Nussbaum, Robert L.; Aradhya, Swaroop; Haldeman-Englert, Chad R.; Levy, Rebecca J.; Parachuri, Venu G.; Lay-Son, Guillermo; de Montellano, David J. Dávila-Ortiz; Ramirez-Garcia, Miguel Angel
- Abstract
This cross-sectional study investigates if genetic diagnoses in patients with epilepsy are associated with changes in clinical management and subsequent outcomes. Key Points: Question: How frequently do genetic diagnoses in patients with epilepsy change clinical management, and what are the subsequent patient outcomes? Findings: In this cross-sectional study among 418 patients with epilepsy who received a genetic diagnosis, 208 (49.8%) had clinical management changes. Of 167 patients with follow-up information, treatment changes were associated with improved patient outcomes in 125 patients (74.9%); the most common improvement was a reduction or elimination of seizures (108 of 167 patients [64.7%]). Meaning: These findings suggest the use of genetic testing to guide clinical management of patients with epilepsy to improve patient outcomes. Importance: 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. Objective: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. Design, Setting, and Participants: 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. Exposures: Genetic test results. Main Outcomes and Measures: 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. Results: 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 (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 [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%). Conclusions and Relevance: 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.
- Publication
JAMA Neurology, 2022, Vol 79, Issue 12, p1267
- ISSN
2168-6149
- Publication type
Article
- DOI
10.1001/jamaneurol.2022.3651