Browsing by Department ""Mónica Pretelini Sáenz" Maternal-Perinatal Hospital (HMPMPS)"
  • Institution Publication
    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
    ( 2022-12-12)
    McKnight D.
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    Morales A.
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    Hatchell K.E.
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    Bristow S.L.
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    Bonkowsky J.L.
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    Bonkowsky J.L.
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    Perry M.S.
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    Berg A.T.
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    Berg A.T.
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    Borlot F.
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    Borlot F.
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    Esplin E.D.
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    Moretz C.
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    Angione K.
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    Angione K.
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    Ríos-Pohl L.
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    Nussbaum R.L.
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    Aradhya S.
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    Haldeman-Englert C.R.
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    Levy R.J.
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    Levy R.J.
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    Parachuri V.G.
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    Lay-Son G.
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    De Montellano D.J.D.O.
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    Ramirez-Garcia M.A.
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    Benítez Alonso E.O.
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    Ziobro J.
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    Chirita-Emandi A.
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    Chirita-Emandi A.
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    Felix T.M.
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    Kulasa-Luke D.
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    Megarbane A.
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    Megarbane A.
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    Karkare S.
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    Chagnon S.L.
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    Humberson J.B.
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    Assaf M.J.
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    Silva S.
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    Zarroli K.
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    Boyarchuk O.
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    Nelson G.R.
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    Palmquist R.
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    Hammond K.C.
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    Hwang S.T.
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    Boutlier S.B.
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    Nolan M.
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    Batley K.Y.
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    Chavda D.
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    Reyes-Silva C.A.
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    Miroshnikov O.
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    Zuccarelli B.
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    Amlie-Wolf L.
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    Wheless J.W.
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    Wheless J.W.
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    Seinfeld S.
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    Kanhangad M.
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    Freeman J.L.
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    Monroy-Santoyo S.
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    Rodriguez-Vazquez N.
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    Ryan M.M.
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    Ryan M.M.
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    Ryan M.M.
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    MacHie M.
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    Guerra P.
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    Hassan M.J.
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    Candee M.S.
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    Bupp C.P.
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    Park K.L.
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    Park K.L.
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    Park K.L.
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    Muller E.
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    Lupo P.
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    Pedersen R.C.
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    Arain A.M.
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    Murphy A.
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    Schatz K.
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    Mu W.
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    Kalika P.M.
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    Plaza L.
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    Kellogg M.A.
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    Lora E.G.
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    Carson R.P.
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    Svystilnyk V.
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    Venegas V.
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    Luke R.R.
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    Jiang H.
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    Stetsenko T.
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    Dueñas-Roque M.M.
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    Trasmonte J.
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    Burke R.J.
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    Burke R.J.
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    Hurst A.C.E.
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    Smith D.M.
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    Massingham L.J.
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    Massingham L.J.
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    Pisani L.
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    Pisani L.
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    Costin C.E.
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    Ostrander B.
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    Filloux F.M.
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    Ananth A.L.
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    Mohamed I.S.
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    Nechai A.
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    Dao J.M.
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    Dao J.M.
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    Fahey M.C.
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    Aliu E.
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    Falchek S.
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    Falchek S.
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    Press C.A.
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    Press C.A.
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    Press C.A.
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    Treat L.
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    Treat L.
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    Treat L.
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    Eschbach K.
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    Eschbach K.
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    Eschbach K.
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    Starks A.
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    Starks A.
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    Starks A.
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    Kammeyer R.
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    Kammeyer R.
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    Kammeyer R.
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    Bear J.J.
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    Bear J.J.
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    Bear J.J.
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    Jacobson M.
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    Jacobson M.
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    Jacobson M.
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    Chernuha V.
    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..