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

Pharmacogenomics 2020 Nov 29;21(17):1207-1215. Epub 2020 Oct 29.

Sanford Health, Imagenetics, Sioux Falls, SD 57105, USA.

This manuscript describes implementation of clinical decision supportĀ 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.

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http://dx.doi.org/10.2217/pgs-2020-0088DOI Listing
November 2020

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