自动化的HL7v2 LRI信息框架,用于简化基因组学-EHR数据集成
Robert H Dolin1, Rohan Gupta2,1, Kimberly Newsom3
1Elimu Informatics, Inc, Richmond, CA, USA.
Journal of pathology informatics
|September 18, 2023
概括
这项研究引入了将基因组数据转换为HL7v2LRI格式的新工具,使得结构化数据从实验室传输到电子健康记录 (EHR) 成为可能. 这样可以更好地访问EHR系统中的遗传变异和临床注释.
科学领域:
- 基因组数据集成和健康信息学.
- 临床生物信息学和电子健康记录 (EHR) 的互操作性.
背景情况:
- 下一代测序数据通常是VCF格式,但大多数EHR缺乏本地VCF支持,导致非结构化的PDF报告.
- 虽然FHIR的采用正在增长,但HL7版本2 (HL7v2) 仍然在EHR系统中普遍存在.
- 实验室结果接口 (LRI) 标准HL7v2为结构化基因组数据通信提供了一个框架.
研究的目的:
- 将现有的VCF扩展到FHIR转换器,以生成符合HL7v2LRI的数据,包括变体注释.
- 实施自动化管道,将结构化基因组数据从临床实验室传输到电子健康记录.
- 提高EHR系统中的基因组信息的数据可访问性和实用性.
主要方法:
- 开发了一个开源工具 (hl7v2GenomicsExtractor),将基因组解释报告转换为符合HL7v2 LRI的HL7v2观测.
- 扩展了转换器以支持Epic的基因组导入规范和替代输入格式.
- 实施了一条自动化管道,用于直接将数据传输到EHR.
主要成果:
- 成功实施了一条自动化管道,将结构化基因组数据从临床实验室转移到EHR.
- 遗传变异数据和临床注释 (表型,治疗含义) 现在可以通过Epic的基因组学模块在EHR中查看.
- 转换器成功地将基因组变异和临床注释数据转换为HL7v2消息,用于EHR集成.
结论:
- 开发的HL7v2转换器使实验室和EHR之间能够进行结构化,基于标准的基因组数据交换.
- 这个管道克服了静态PDF报告的局限性,使基因组注释可以在EHR中计算和结构化.
- 解决基因组解释报告中的数据变异性是开发和部署期间的一个关键挑战.
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