Login / Signup

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

Jordan F BayeNatasha J PetryShauna L JacobsonMichelle M MooreBethany TuckerSherin ShaabanAmanda K MassmannNicole M ClarkApril J Schultz
Published in: Pharmacogenomics (2020)
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.
Keyphrases