Pharmacogenomics · 2020
Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Baye Jordan F, Petry Natasha J, Jacobson Shauna L, Moore Michelle M, Tucker Bethany, Shaaban Sherin, Massmann Amanda K, Clark Nicole M, Schultz April J
Аннотация
Aim: This manuscript describes implementation of clinical decision support for providers concerned with perioperative complications of malignant hyperthermia susceptibility. Materials & methods: Clinical decision support for malignant hyperthermia susceptibility was implemented in 2018 based around our pre-emptive genotyping platform. We completed a brief descriptive review of patients who underwent pre-emptive testing, focused particularly on RYR1 and CACNA1S genes. Results: To date, we have completed pre-emptive genetic testing on more than 10,000 patients; 13 patients having been identified as a carrier of a pathogenic or likely pathogenic variant of RYR1 or CACNA1S. Conclusion: An alert system for malignant hyperthermia susceptibility - as an extension of our pre-emptive genomics platform - was implemented successfully. Implementation strategies and lessons learned are discussed herein.
Предметные рубрики MeSH
Anesthetics, InhalationCalcium Channels, L-TypeDecision Support Systems, ClinicalElectronic Health RecordsGenetic Predisposition to DiseaseGenetic TestingGenotypeHeterozygoteHumansMalignant HyperthermiaNeuromuscular Depolarizing AgentsPatient SafetyRyanodine Receptor Calcium Release ChannelSuccinylcholine