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恶性高热易感性:利用电子病历中的遗传结果提高安全性。

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

机构信息

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

Department of Pharmacy Practice, South Dakota State University College of Pharmacy & Allied Health Professions, Brookings, SD 57006, USA.

出版信息

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

Abstract

This manuscript describes implementation of clinical decision support 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.

摘要

本手稿描述了针对恶性高热易感性围手术期并发症的临床决策支持的实施情况。 基于我们的预防性基因分型平台,2018 年实施了针对恶性高热易感性的临床决策支持。我们完成了对接受预防性检测的患者的简短描述性回顾,特别关注 和 基因。 迄今为止,我们已经对超过 10000 名患者完成了预防性基因检测; 13 名患者被确定为 或 基因的致病性或可能致病性变异的携带者。 成功实施了恶性高热易感性警报系统 - 作为我们预防性基因组学平台的扩展。 本文讨论了实施策略和经验教训。

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