Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems
Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems
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DOI：
10.1038/clpt.2014.137
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发表时间：
2014-10-01
影响因子：
6.7
通讯作者：
Denny, J. C.
中科院分区：
文献类型：
--
作者：
Rasmussen-Torvik, L. J.;Stallings, S. C.;Denny, J. C.
我们在此描述 eMERGE-PGx 项目的设计和初步实施。 eMERGE-PGx 是电子病历和基因组学网络和药物基因组学研究网络的合作伙伴，有三个目标：(i) 在多个临床中心的近 9,000 名可能在 1 至 3 年时间范围内开具感兴趣药物的患者中部署 PGRNseq，这是一个下一代测序平台，可评估 84 个拟议药物基因的序列变异； (ii) 将成熟的临床验证药物遗传学基因型与相关临床决策支持整合到电子健康记录中，并评估实施过程和临床结果； (iii) 开发一个具有未知意义的药物遗传学变异存储库，该变异存储库与基于电子健康记录的临床表型数据存储库相关联，以进行持续的药物基因组学发现。我们描述了特定地点的项目实施和预期产品，包括遗传变异和表型数据存储库、新变异关联研究、临床决策支持模块、临床和过程结果、管理偶然发现的方法以及患者和临床医生教育方法。
We describe here the design and initial implementation of the eMERGE-PGx project. eMERGE-PGx, a partnership of the Electronic Medical Records and Genomics Network and the Pharmacogenomics Research Network, has three objectives: (i) to deploy PGRNseq, a next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, in nearly 9,000 patients likely to be prescribed drugs of interest in a 1- to 3-year time frame across several clinical sites; (ii) to integrate well-established clinically validated pharmacogenetic genotypes into the electronic health record with associated clinical decision support and to assess process and clinical outcomes of implementation; and (iii) to develop a repository of pharmacogenetic variants of unknown significance linked to a repository of electronic health record-based clinical phenotype data for ongoing pharmacogenomics discovery. We describe site-specific project implementation and anticipated products, including genetic variant and phenotype data repositories, novel variant association studies, clinical decision support modules, clinical and process outcomes, approaches to managing incidental findings, and patient and clinician education methods.