Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care
Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care
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DOI：
10.1111/epi.16278
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发表时间：
2019-07-11
期刊：
影响因子：
5.6
通讯作者：
Fitzsimons, Mary
中科院分区：
文献类型：
--
作者：
Delanty, Norman;White, Maire;Fitzsimons, Mary
目标 临床基因组学和电子医疗技术正在改变医学实践的方式。尽管良好医疗保健的基本临床方法将保持不变，但基因组学和电子健康记录的综合力量能够增强甚至在某些情况下改变医学实践。对于患有慢性难治性癫痫等复杂的长期医疗状况的患者，尤其是患有智力障碍和精神疾病等相关复杂合并症的患者来说，尤其如此。方法在此，我们概述了癫痫基因组学模块的开发并将其集成到现有的癫痫电子病历（EPR）系统中。结果我们描述了如何使用此 EPR 基础设施来促进多学科临床会议上围绕分子诊断和由此产生的管理变化的讨论。意义 这项工作阐释了电子医疗技术在将基因组学嵌入临床路径中的作用。
Objectives Both clinical genomics and e-Health technology are changing the way medicine is being practiced. Although the basic clinical methodology of good medical care will remain unchanged, the combined power of genomics and electronic health records has the capability of enhancing, and in some cases transforming, the practice of medicine. This is particularly true in the care of patients with complex long-term medical conditions such as chronic refractory epilepsy, especially in those with related complex comorbidities including intellectual disability and psychiatric disease. Methods Herein we outline the development and integration of an epilepsy genomics module into a preexisting epilepsy electronic patient record (EPR) system. Results We describe how this EPR infrastructure is used to facilitate discussion at multidisciplinary clinical meetings around molecular diagnosis and resulting changes in management. Significance This work illustrates the role of eHealth technology in embedding genomics into the clinical pathway.