FHIR®的基因组考量；eMERGE 实施经验教训。
Genomic considerations for FHIR®; eMERGE implementation lessons.
机构信息
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
出版信息
J Biomed Inform. 2021 Jun;118:103795. doi: 10.1016/j.jbi.2021.103795. Epub 2021 Apr 28.
Abstract
Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Network's Phase III program initially used a commercially developed XML message format for standardized and structured representation of genetic results for electronic health record (EHR) integration. In a desire to move towards a standard representation, the network created a new standardized format based upon Health Level Seven Fast Healthcare Interoperability Resources (HL7® FHIR®), to represent clinical genomics results. These new standards improve the utility of HL7® FHIR® as an international healthcare interoperability standard for management of genetic data from patients. This work advances the establishment of standards that are being designed for broad adoption in the current health information technology landscape.
摘要
临床遗传学结果的结构化表示对于推进精准医学至关重要。电子病历和基因组学 (eMERGE) 网络的第三阶段计划最初使用商业开发的 XML 消息格式，用于标准化和结构化表示遗传结果，以实现电子健康记录 (EHR) 的集成。为了朝着标准表示形式发展，该网络创建了一个新的基于健康水平 7 快速医疗保健互操作性资源 (HL7® FHIR®) 的标准化格式，用于表示临床基因组学结果。这些新标准提高了 HL7® FHIR®作为国际医疗保健互操作性标准的实用性，用于管理来自患者的遗传数据。这项工作推进了标准的制定，这些标准旨在广泛应用于当前的健康信息技术环境。
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