Malignant Hyperthermia Susceptibility: Utilization of Genetic Results in an Electronic Medical Record to Increase Safety

Abstract

<b>Aim:</b> This manuscript describes implementation of clinical decision support for providers concerned with perioperative complications of malignant hyperthermia susceptibility. <b>Materials & methods:</b> 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 <i>RYR1</i> and <i>CACNA1S</i> genes. <b>Results:</b> 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 <i>RYR1</i> or <i>CACNA1S</i>. <b>Conclusion:</b> 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.