McKnight, DianaleeMorales, AnaHatchell, Kathryn E.Bristow, Sara L.Bonkowsky, Joshua L.Scott Perry, MichaelBerg, Anne T.Borlot, FelippeEsplin, Edward D.Moretz, ChadAngione, KatieRíos-Pohl, LoretoNussbaum, Robert L.Aradhya, SwaroopELEVIATE ConsortiumHaldeman-Englert, Chad R.Levy, Rebecca J.Parachuri, Venu G.Lay-Son, GuillermoDávila-Ortiz de Montellano, David J.Ramírez-García, Miguel AngelBenítez Alonso, Edmar O.Ziobro,JulieChirita-Emandi, AdelaFelix, Temis M.Kulasa-Luke, DianneMegarbane, AndreKarkare, ShefaliChagnon, Sarah L.Humberson, Jennifer B.Assaf, Melissa J.Silva, SebastiánZarroli, KatherineBoyarchuk, OksanaNelson, Gary R.Palmquist, RachelKatherine C HammondHwang, Sean T.Boutlier, Susan B.Nolan MelindaBatley, Kaitlin Y.Chavda, DevrajReyes-Silva, Carlos AlbertoMiroshnikov, OleksandrZuccarelli, BrittonAmlie-Wolf, LouisWheless, James W.Seinfeld, SyndiVenegas, Viviana2024-01-042024-01-042022McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzmán GG, Pavliuk M. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651.https://repositorio.udd.cl/handle/11447/8261Manoj Kanhangad; Jeremy L. Freeman; Susana Monroy-Santoyo; Natalia Rodriguez-Vazquez; Monique M Ryan; Michelle Machie; Patricio Guerra; Muhammad Jawad Hassan ; Meghan S Candee; Caleb P Bupp; Kristen L Park; Eric Muller 2nd; Pamela Lupo; Robert C Andersen; Amir M Arain; Andrea Murphy; Krista Schatz; Weiyi Mu; Paige M Kalika; Lautaro Plaza; Marissa A Kellogg; Evelyn G Lora; Robert P Carson; Victoria Svystilnyk; Viviana Venegas; Rebecca R Luke; Huiyuan Jiang, Tetiana Stetsenko; Milagros M Dueñas-Roque; Joseph Trasmonte; Rebecca J Burke; Anna C E Hurst; Douglas M Smith; Lauren J Massingham; Laura Pisani; Carrie E Costin; Betsy Ostrander; Francis M Filloux; Amitha L Ananth; Ismail S Mohamed; Alla Nechai; Jasmin M Dao; Michael C Fahey; Ermal Aliu; Stephen Falchek; Craig A Press; Lauren Treat; Krista Eschbach; Angela Starks; Ryan Kammeyer; Joshua J Bear; Mona Jacobson; Veronika Chernuha; Bailey Meibos; Kristen Wong; Matthew T Sweney; A Chris Espinoza; Colin B Van Orman; Arie Weinstock; Ashutosh Kumar; Claudia Soler-Alfonso; Danielle A Nolan; Muhammad Raza; Miguel David Rojas Carrion; Geetha Chari; Eric D Marsh; Yael Shiloh-Malawsky; Sumit Parikh; Ernesto Gonzalez-Giraldo; Stephen Fulton; Yoshimi Sogawa; Kaitlyn Burns; Myroslava Malets; Johnny David Montiel Blanco; Christa W Habela; Carey A Wilson; Guillermo G Guzmán; Mariia PavliukImportance: 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.10 p.enEpilepsyGeneticsArticlehttp://doi.org/10.1001/jamaneurol.2022.3651