Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety

• Published in: Pharmacogenomics 2020-11, Vol.21 (17), p.1207-1215
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: clinical decision support; inhalation anesthetics; malignant hyperthermia; malignant hyperthermia susceptibility; personalized medicine; pharmacogenomics
• ISSN: 1462-2416; 1744-8042
• DOI: 10.2217/pgs-2020-0088

This manuscript describes implementation of clinical decision support for providers concerned with perioperative complications of malignant hyperthermia susceptibility. 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 and genes. 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 or . 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. and CACNA1S have pathogenic variants known to cause malignant hyperthermia susceptibility (MHS) in patients receiving inhaled volatile anesthetics and succinylcholine. While there are guidelines and recommendations for genetic screening of MHS, the ability to translate genetic information into practice has functional limitations, especially for clinicians who may rely on patient report or information buried in a medical record. In this report, we describe a novel infrastructure and methodology that alerts anesthesiologists to the presence of MHS before and during surgery. This platform provides clinical decision support in the form of passive and interruptive alerts in real time. In more than 10,000 patients screened for MHS, 0.122% had a pathogenic or likely pathogenic variant of , which predispose MHS.