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促进具备遗传学意识的临床决策支持:将eMERGE基础设施付诸实践。

Facilitating Genetics Aware Clinical Decision Support: Putting the eMERGE Infrastructure into Practice.

作者信息

Taylor Casey Overby, Rasmussen Luke V, Rasmussen-Torvik Laura J, Prows Cynthia A, Dorr David A, Samal Lipika, Aronson Samuel

机构信息

Departments of Medicine and Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland, United States.

Geisinger Health System, Genomic Medicine Institute, Danville, Pennsylvania, United States.

出版信息

ACI open. 2021 Jul;5(2):e54-e58. doi: 10.1055/s-0041-1729981. Epub 2021 Jul 6.

DOI:10.1055/s-0041-1729981
PMID:37920232
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10621326/
Abstract

This editorial provides context for a series of published case reports in ACI Open by summarizing activities and outputs of joint electronic health record integration and pharmacogenomics workgroups in the NIH-funded electronic Medical Records and Genomics (eMERGE) Network. A case report is a useful tool to describe the range of capabilities that an IT infrastructure or a particular technology must support. The activities we describe have informed infrastructure requirements used during eMERGE phase III, provided a venue to share experiences and ask questions among other eMERGE sites, summarized potential hazards that might be encountered for specific clinical decision support (CDS) implementation scenarios, and provided a simple framework that captured progress toward implementing CDS at eMERGE sites in a consistent format.

摘要

本社论通过总结美国国立卫生研究院资助的电子病历与基因组学(eMERGE)网络中联合电子健康记录整合和药物基因组学工作组的活动及成果,为《ACI开放》上发表的一系列病例报告提供背景信息。病例报告是描述IT基础设施或特定技术必须支持的一系列能力的有用工具。我们所描述的活动为eMERGE第三阶段使用的基础设施要求提供了参考,为其他eMERGE站点之间分享经验和提问提供了一个平台,总结了特定临床决策支持(CDS)实施场景中可能遇到的潜在风险,并提供了一个简单框架,以一致的格式记录eMERGE站点在实施CDS方面取得的进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d729/10621326/a33408b0cc30/nihms-1938898-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d729/10621326/ae4f5160ba3d/nihms-1938898-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d729/10621326/7a7d0646e42f/nihms-1938898-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d729/10621326/a33408b0cc30/nihms-1938898-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d729/10621326/ae4f5160ba3d/nihms-1938898-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d729/10621326/7a7d0646e42f/nihms-1938898-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d729/10621326/a33408b0cc30/nihms-1938898-f0003.jpg

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本文引用的文献

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The Implementation Chasm Hindering Genome-informed Health Care.阻碍基因组信息医疗实施的鸿沟。
J Law Med Ethics. 2020 Mar;48(1):119-125. doi: 10.1177/1073110520916999.
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Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.电子健康记录中面向临床医生的基因组信息:从临床基因组资源项目和电子病历与基因组学网络中汲取的经验教训。
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通过实施基因组指标,将药物基因组学整合到电子健康记录中。
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An ancillary genomics system to support the return of pharmacogenomic results.支持药代基因组学结果回报的辅助基因组学系统。
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Reconciling Opportunistic and Population Screening in Clinical Genomics.在临床基因组学中协调机会性筛查和人群筛查。
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J Am Med Inform Assoc. 2019 Feb 1;26(2):143-148. doi: 10.1093/jamia/ocy156.
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Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.通过建立关键测序结果数据流来增强基因组医学:eMERGE 范例。
J Am Med Inform Assoc. 2018 Oct 1;25(10):1375-1381. doi: 10.1093/jamia/ocy051.
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Integrated precision medicine: the role of electronic health records in delivering personalized treatment.整合精准医学:电子健康记录在提供个性化治疗中的作用。
Wiley Interdiscip Rev Syst Biol Med. 2017 May;9(3). doi: 10.1002/wsbm.1378. Epub 2017 Feb 16.
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CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.CSER与eMERGE:电子健康记录中遗传信息显示的现状与潜在状况
J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. Epub 2015 Jul 3.