SMART on FHIR Genomics: facilitating standardized clinico-genomic apps
SMART on FHIR Genomics: facilitating standardized clinico-genomic apps
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DOI：
10.1093/jamia/ocv045
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发表时间：
2015-11-01
影响因子：
6.4
通讯作者：
Kohane, Isaac S.
中科院分区：
文献类型：
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作者：
Alterovitz, Gil;Warner, Jeremy;Kohane, Isaac S.
背景 支持个性化医疗的临床决策支持需要将基因组和表型变异与患者的电子健康记录 (EHR) 连接起来，有时需要大规模连接。需要临床基因组数据标准来统一从不同测序系统获取基因组变异数据的方式。方法基于当前健康七级国际快速医疗互操作性资源 (FHIRA (R)) 标准，制定了临床基因组标准基础规范。 FHIR 应用协议接口 (API) 层连接到专有测序平台和 EHR，以便公开基因变异数据以呈现给最终用户。构建了三个基于 SMART 平台的代表性应用程序来测试端到端的可行性，包括基因组数据和临床数据的集成。 结果 API 的成功设计、部署和使用得到了 HL7 临床基因组学工作组的论证和采用。具有背景水平和位置的不同类型的用户开发三个应用程序显示了可行性。 结论 这项原型设计工作表明，完全基于数据（和网络）标准的方法可以证明对于推进个性化医疗既有效又高效。
Background Supporting clinical decision support for personalized medicine will require linking genome and phenome variants to a patient's electronic health record (EHR), at times on a vast scale. Clinico-genomic data standards will be needed to unify how genomic variant data are accessed from different sequencing systems.Methods A specification for the basis of a clinic-genomic standard, building upon the current Health Level Seven International Fast Healthcare Interoperability Resources (FHIRA (R)) standard, was developed. An FHIR application protocol interface (API) layer was attached to proprietary sequencing platforms and EHRs in order to expose gene variant data for presentation to the end-user. Three representative apps based on the SMART platform were built to test end-to-end feasibility, including integration of genomic and clinical data.Results Successful design, deployment, and use of the API was demonstrated and adopted by HL7 Clinical Genomics Workgroup. Feasibility was shown through development of three apps by various types of users with background levels and locations.Conclusion This prototyping work suggests that an entirely data (and web) standards-based approach could prove both effective and efficient for advancing personalized medicine.