SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care
SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care
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DOI：
10.1093/jamia/ocw015
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发表时间：
2016-07-01
影响因子：
6.4
通讯作者：
Alterovitz, Gil
中科院分区：
文献类型：
--
作者：
Warner, Jeremy L.;Rioth, Matthew J.;Alterovitz, Gil
精确癌症医学（PCM）将需要在临床工作流程和工具中随时访问基因组数据，以帮助临床解释和决策。由于大多数电子健康记录（EHR）系统还没有提供这样的功能，我们开发了一个EHR不可知的，临床基因组移动的应用程序，以展示几个功能，将需要点的护理conversation.Methods我们的原型，称为替代医疗应用和可重用技术（SMART）（R）PCM，可视化基因组信息在真实的时间，将通过基于PCR的热点测试检测到的患者的诊断特异性体细胞基因突变与群体水平的可比数据集进行比较。初始原型适用于检测到0或1个突变的患者标本。基因组学扩展创建的健康水平七（R）快速医疗保健互操作性资源（FHIR）（R）标准，否则，原型是一个正常的SMART上FHIR apply.Results PCM原型可以快速呈现一个可视化，比较一个病人的体细胞基因组改变对分布从3000多名患者，沿着与上下文特定的链接到外部知识库。肿瘤学家的初步评估提供了关于原型的优点和缺点的重要反馈。我们添加了几项要求的增强功能，并在首届美国临床肿瘤学会互操作性演示会上成功演示了该应用程序;我们还开始扩展可视化功能，以包括具有多种突变的癌症标本。Discussion PCM是一款开源软件，供临床医生在癌症体细胞突变的人群水平谱中呈现个体患者。该应用程序可以在任何支持FHIR的EHR上的SMART上实现，未来版本的PCM应该能够与外部知识库并行发展。
Background Precision cancer medicine (PCM) will require ready access to genomic data within the clinical workflow and tools to assist clinical interpretation and enable decisions. Since most electronic health record (EHR) systems do not yet provide such functionality, we developed an EHR-agnostic, clinico-genomic mobile app to demonstrate several features that will be needed for point-of-care conversations.Methods Our prototype, called Substitutable Medical Applications and Reusable Technology (SMART)(R) PCM, visualizes genomic information in real time, comparing a patient's diagnosis-specific somatic gene mutations detected by PCR-based hotspot testing to a population-level set of comparable data. The initial prototype works for patient specimens with 0 or 1 detected mutation. Genomics extensions were created for the Health Level Seven (R) Fast Healthcare Interoperability Resources (FHIR)(R) standard; otherwise, the prototype is a normal SMART on FHIR app.Results The PCM prototype can rapidly present a visualization that compares a patient's somatic genomic alterations against a distribution built from more than 3000 patients, along with context-specific links to external knowledge bases. Initial evaluation by oncologists provided important feedback about the prototype's strengths and weaknesses. We added several requested enhancements and successfully demonstrated the app at the inaugural American Society of Clinical Oncology Interoperability Demonstration; we have also begun to expand visualization capabilities to include cancer specimens with multiple mutations.Discussion PCM is open-source software for clinicians to present the individual patient within the population-level spectrum of cancer somatic mutations. The app can be implemented on any SMART on FHIR-enabled EHRs, and future versions of PCM should be able to evolve in parallel with external knowledge bases.