OBJECTIVES Pharmacogenomics (PGx) is often considered a low-hanging fruit for genomics-electronic health record (EHR) integrations, and many have expressed the notion that drug-gene interaction checking might one day become as much a commodity in EHRs as drug-drug and drug-allergy checking. In addition, the U.S. Office of the National Coordinator has recognized the trend toward storing complete sequencing data outside the EHR in a Genomic Archiving and Communication System (GACS) and has emphasized the need for "pilots that test Fast Healthcare Interoperability Resources (FHIR) Genomics for GACS integration with EHRs." We sought to develop a PGx clinical decision support (CDS) service, leveraging the emerging FHIR and CDS Hooks standards, and based on an assumption that pharmacogene sequencing data would be stored alongside the EHR in a GACS. METHODS We developed a PGx CDS service as a functional prototype. The service is triggered by a medication order in the EHR. When evoked, the service looks for relevant genetic data in a GACS and returns corresponding recommendations back to the ordering clinician. Where the patient has no genetic data on file, the service can recommend pretreatment genetic testing where applicable. RESULTS Overall, we were able to meet our objectives and deploy a functional prototype, interfaced with a commercial EHR. We identified several areas where FHIR or CDS Hooks lacked necessary semantics or have implementation ambiguity. Primary FHIR challenges included multiple ways to say the same thing, which exacerbated the complexity of variant to allele conversion and lack of representation of deoxyribonucleic acid region(s) studied. Primary CDS Hooks challenges included the complexity of executing an authenticated query against one system (GACS) upon being triggered by a different system (the EHR), and limitations in the types of actionable recommendations that can be returned to the EHR. CONCLUSIONS In conclusion, we have found that PGx CDS based on FHIR and CDS Hooks appears to represent a promising means of genomics-EHR integration. More real-world testing along with a set of use-case driven GACS interface requirements will push us closer to the U.S. National Human Genome Research Institute vision of a plug-in PGx app.

中文翻译：

---

基于FHIR和CDS挂钩的药物基因组学临床决策支持服务。

目的药物基因组学（PGx）通常被认为是基因组-电子健康记录（EHR）整合的一个低垂果实，许多人已经表达了这样一种观念，即药物基因相互作用检查可能有一天会成为EHR中与毒品一样多的商品和药物过敏检查。此外，美国国家协调员办公室已经意识到将完整的测序数据存储在EHR之外的基因组存档和通信系统（GACS）中的趋势，并强调需要“测试快速医疗保健互操作性资源（FHIR）基因组学的飞行员用于GACS与EHR的集成。” 我们试图利用新兴的FHIR和CDS Hooks标准来开发PGx临床决策支持（CDS）服务，并假设药物基因测序数据将与EHR一起存储在GACS中。方法我们开发了PGx CDS服务作为功能原型。该服务由EHR中的药品订单触发。诱发后，该服务会在GACS中查找相关的遗传数据，并将相应的建议返回给订购临床医生。如果患者没有存档的遗传数据，则该服务可以在适用时建议进行预处理的基因检测。结果总的来说，我们能够实现我们的目标并部署与商业EHR交互的功能原型。我们确定了FHIR或CDS Hooks缺少必要语义或实现模糊的几个区域。FHIR面临的主要挑战包括说同一件事的多种方式，这加剧了变体向等位基因转化的复杂性，并且缺乏所研究的脱氧核糖核酸区域的代表性。CDS Hooks的主要挑战包括，在由另一个系统（EHR）触发后，对一个系统（GACS）执行经过身份验证的查询的复杂性，以及可返回给EHR的可操作建议类型的限制。结论总之，我们发现基于FHIR和CDS Hooks的PGx CDS似乎代表了有希望的基因组学-EHR整合方法。更多的实际测试以及一组用例驱动的GACS接口要求，将使我们更接近美国国家人类基因组研究院对PGx插件的愿景。CDS Hooks的主要挑战包括，在由另一个系统（EHR）触发后，对一个系统（GACS）执行经过身份验证的查询的复杂性，以及可返回给EHR的可操作建议类型的限制。结论总之，我们发现基于FHIR和CDS Hooks的PGx CDS似乎代表了有希望的基因组学-EHR整合方法。更多的实际测试以及一组用例驱动的GACS接口要求，将使我们更接近美国国家人类基因组研究院对PGx插件的愿景。CDS Hooks的主要挑战包括，在由另一个系统（EHR）触发后，对一个系统（GACS）执行经过身份验证的查询的复杂性，以及可返回给EHR的可操作建议类型的限制。结论总之，我们发现基于FHIR和CDS Hooks的PGx CDS似乎代表了有希望的基因组学-EHR整合方法。更多的实际测试以及一组用例驱动的GACS接口要求，将使我们更接近美国国家人类基因组研究院对PGx插件的愿景。我们发现基于FHIR和CDS Hooks的PGx CDS似乎代表了基因组学与EHR集成的有前途的手段。更多的实际测试以及一组用例驱动的GACS接口要求，将使我们更接近美国国家人类基因组研究院对PGx插件的愿景。我们发现基于FHIR和CDS Hooks的PGx CDS似乎代表了基因组学与EHR集成的有前途的手段。更多的实际测试以及一组用例驱动的GACS接口要求，将使我们更接近美国国家人类基因组研究院对PGx插件的愿景。