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Pharmacogenomics ; 21(17): 1207-1215, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33118445

RESUMO

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.


Assuntos
Registros Eletrônicos de Saúde , Hipertermia Maligna/genética , Anestésicos Inalatórios/efeitos adversos , Canais de Cálcio Tipo L/genética , Sistemas de Apoio a Decisões Clínicas , Predisposição Genética para Doença , Testes Genéticos , Genótipo , Heterozigoto , Humanos , Hipertermia Maligna/epidemiologia , Hipertermia Maligna/fisiopatologia , Fármacos Neuromusculares Despolarizantes/efeitos adversos , Segurança do Paciente , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Succinilcolina/efeitos adversos
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