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

Pharmacogenomics. 2020 Nov;21(17):1207-1215. doi: 10.2217/pgs-2020-0088. Epub 2020 Oct 29.

Abstract

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.

Keywords: clinical decision support; inhalation anesthetics; malignant hyperthermia; malignant hyperthermia susceptibility; personalized medicine; pharmacogenomics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anesthetics, Inhalation / adverse effects
  • Calcium Channels, L-Type / genetics
  • Decision Support Systems, Clinical
  • Electronic Health Records*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genotype
  • Heterozygote
  • Humans
  • Malignant Hyperthermia / epidemiology
  • Malignant Hyperthermia / genetics*
  • Malignant Hyperthermia / physiopathology
  • Neuromuscular Depolarizing Agents / adverse effects
  • Patient Safety
  • Ryanodine Receptor Calcium Release Channel / genetics
  • Succinylcholine / adverse effects

Substances

  • Anesthetics, Inhalation
  • CACNA1S protein, human
  • Calcium Channels, L-Type
  • Neuromuscular Depolarizing Agents
  • RYR1 protein, human
  • Ryanodine Receptor Calcium Release Channel
  • Succinylcholine