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Pharmacogenomics ; 21(17): 1207-1215, 2020 11.
Article in English | MEDLINE | ID: mdl-33118445

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.


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