FHIRCat: Enabling the Semantics of FHIR and Terminologies for Clinical and Translational Research

项目摘要 HL7快速医疗互操作性资源(FHIR)是新兴的下一代标准框架 电子健康记录(EHR)数据的交换。FHIR规范定义了一个通用词汇表 以及用于独立于其实际存储方式来共享EHR数据的机制。所有主要的电子病历供应商 正在为他们的临床数据开发标准化的FHIR接口。杉木令人兴奋的方面之一是它 是首批纳入TIME所描述的“语义网”愿景的临床数据标准之一 伯纳斯-李在他经常引用的2001年的文章中。在这篇文章中，他断言语义网将是下一个“杀手” 并概述了成功的公式：1)以单一、通用的格式表示信息和意义- 资源描述框架(RDF)；2)创建URI目录，用作 在给定使用上下文中的RDF表示；以及3)创建用于转换现有数据和知识的工具 资源转换为RDF和URI的通用语言。这允许来自不同来源的信息和 结构组合成一个联合的“链接开放数据”集合。此链接数据模型 允许将临床数据与其他关联数据相结合，例如环境、遗传、地理和任何 其他相关数据，并作为一个整体进行分析。我们之前已经证明了 RDF、OWL语义和形状表达式(ShEx)模式语言的组合在理论上可以 提供强大的平台，用于在单个资源下集成不同的数据模型和范例 面向接口的集合。这个项目的目标是设计、开发和评估一部小说 称为FHIRCat的信息学平台，它利用语义Web技术、FHIR模型/配置文件和 基于标准的有效数据集成和分布式分析的本体，支持高质量 可重复的临床和转译研究。我们的具体目标是：1)发展FHIR ShEx/RDF FHIR数据验证规范和工具；2)基于RDF的数据转换的标准化和部署 (3)建立和评价了基于本体的数据访问模型(OBDA)。 与CTSA National合作，可与跨机构的临床数据存储库互操作的系统 健康数据中心(CD2H)。该项目的成果使伯纳斯-李的愿景成为可能 为医疗保健在不久的将来，进而为推进杉木自动化创造新的机遇- 基于临床数据的集成和共享，加速基于标准的数据发现和分布式 临床和转译研究中的分析。 1

Project Summary HL7 Fast Healthcare Interoperability Resources (FHIR) is an emerging next generation standard framework for the exchange of electronic health record (EHR) data. The FHIR specification defines a common vocabulary and mechanism for sharing EHR data independent of how it is actually stored. All of the major EHR vendors are developing standardized FHIR interfaces to their clinical data. One of the exciting aspects of FHIR is that it is among the first clinical data standards to incorporate the vision of the “Semantic Web” described by Tim Berners-Lee in his oft cited article from 2001. In the article, he asserts that the Semantic Web is the next "killer app" and outlines a formula for success: 1) Represent information and meaning in a single, universal format - Resource Description Framework (RDF); 2) Create a catalog of URIs that serve as shared identifiers for the RDF representation in a given context of use; and 3) Create tools for transforming existing data and knowledge resources into the universal language of RDF and URIs. This allows information from disparate sources and structures to be combined into a single, federated collection of “linked open data”. This linked data model allows clinical data to be combined with other linked data such as environmental, genetic, geographic, and any other relevant data and to be analyzed as an integrated whole. We have previously demonstrated that the combination of RDF, OWL semantics, and the Shape Expressions (ShEx) schema language could theoretically provide a robust platform for integrating disparate data models and paradigms under a single, resource oriented collection of interfaces. The objective of this project is to design, develop and evaluate a novel informatics platform known as FHIRCat that leverages Semantic Web technologies, FHIR models/profiles, and ontologies for effective standards-based data integration and distributed analytics, enabling high-quality reproducible clinical and translational research. Our specific aims are: 1) Develop FHIR ShEx/RDF specification and tools for FHIR data validation; 2) Standardize and deploy the RDF-based data transformation between external models and FHIR; and 3) Build and evaluate a FHIR ontology-based data access (OBDA) system interoperable with clinical data repositories across institutions in partnership with the CTSA National Center for Data to Health (CD2H). The outcome of the project makes it possible to realize Berners-Lee’s vision for healthcare in the very near future, in turn creating new opportunities for advancing the automation of FHIR- based clinical data integration and sharing, and accelerating standards-based data discovery and distributed analytics in clinical and translational research. 1