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临床基因组学在电子健康记录的世界中。

Clinical genomics in the world of the electronic health record.

机构信息

Division of Biomedical Informatics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

出版信息

Genet Med. 2013 Oct;15(10):786-91. doi: 10.1038/gim.2013.88. Epub 2013 Jul 11.

Abstract

The widespread adoption of electronic health records presents a number of benefits to the field of clinical genomics. They include the ability to return results to the practitioner, to use genetic findings in clinical decision support, and to have data collected in the electronic health record that serve as a source of phenotypic information for analysis purposes. Not all electronic health records are created equal, however. They differ in their features, capabilities, and ease of use. Therefore, to understand the potential of the electronic health record, it is first necessary to understand its capabilities and the impact that implementation strategy has on usability. Specifically, we focus on the following areas: (i) how the electronic health record is used to capture data in clinical practice settings; (ii) how the implementation and configuration of the electronic health record affect the quality and availability of data; (iii) the management of clinical genetic test results and the feasibility of electronic health record integration; and (iv) the challenges of implementing an electronic health record in a research-intensive environment. This is followed by a discussion of the minimum functional requirements that an electronic health record must meet to enable the satisfactory integration of genomic results as well as the open issues that remain.

摘要

电子健康记录的广泛采用为临床基因组学领域带来了诸多益处。其中包括能够将结果返回给医生、在临床决策支持中使用遗传发现,以及在电子健康记录中收集可作为分析目的表型信息来源的数据。然而,并非所有的电子健康记录都是平等创建的。它们在功能、性能和易用性方面存在差异。因此,要了解电子健康记录的潜力,首先需要了解其功能以及实施策略对可用性的影响。具体来说,我们专注于以下几个方面:(i)电子健康记录如何用于在临床实践环境中捕获数据;(ii)电子健康记录的实施和配置如何影响数据的质量和可用性;(iii)临床遗传测试结果的管理以及电子健康记录集成的可行性;以及(iv)在研究密集型环境中实施电子健康记录的挑战。接下来讨论了电子健康记录必须满足的最低功能要求,以实现令人满意的基因组结果集成,以及仍然存在的开放问题。

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