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首页> 外文期刊>JMIR Medical Informatics >Incorporation of Personal Single Nucleotide Polymorphism (SNP) Data into a National Level Electronic Health Record for Disease Risk Assessment, Part 2: The Incorporation of SNP into the National Health Information System of Turkey
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Incorporation of Personal Single Nucleotide Polymorphism (SNP) Data into a National Level Electronic Health Record for Disease Risk Assessment, Part 2: The Incorporation of SNP into the National Health Information System of Turkey

机译：将个人单核苷酸多态性（SNP）数据纳入用于疾病风险评估的国家级电子健康记录，第2部分：将SNP纳入土耳其的国家健康信息系统

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Background A personalized medicine approach provides opportunities for predictive and preventive medicine. Using genomic, clinical, environmental, and behavioral data, the tracking and management of individual wellness is possible. A prolific way to carry this personalized approach into routine practices can be accomplished by integrating clinical interpretations of genomic variations into electronic medical record (EMR)s/electronic health record (EHR)s systems. Today, various central EHR infrastructures have been constituted in many countries of the world, including Turkey. Objective As an initial attempt to develop a sophisticated infrastructure, we have concentrated on incorporating the personal single nucleotide polymorphism (SNP) data into the National Health Information System of Turkey (NHIS-T) for disease risk assessment, and evaluated the performance of various predictive models for prostate cancer cases. We present our work as a miniseries containing three parts: (1) an overview of requirements, (2) the incorporation of SNP into the NHIS-T, and (3) an evaluation of SNP data incorporated into the NHIS-T for prostate cancer. Methods For the second article of this miniseries, we have analyzed the existing NHIS-T and proposed the possible extensional architectures. In light of the literature survey and characteristics of NHIS-T, we have proposed and argued opportunities and obstacles for a SNP incorporated NHIS-T. A prototype with complementary capabilities (knowledge base and end-user applications) for these architectures has been designed and developed. Results In the proposed architectures, the clinically relevant personal SNP (CR-SNP) and clinicogenomic associations are shared between central repositories and end-users via the NHIS-T infrastructure. To produce these files, we need to develop a national level clinicogenomic knowledge base. Regarding clinicogenomic decision support, we planned to complete interpretation of these associations on the end-user applications. This approach gives us the flexibility to add/update envirobehavioral parameters and family health history that will be monitored or collected by end users. Conclusions Our results emphasized that even though the existing NHIS-T messaging infrastructure supports the integration of SNP data and clinicogenomic association, it is critical to develop a national level, accredited knowledge base and better end-user systems for the interpretation of genomic, clinical, and envirobehavioral parameters.
机译：背景技术个性化医学方法为预测医学和预防医学提供了机会。使用基因组，临床，环境和行为数据，可以对个人健康进行跟踪和管理。通过将基因组变异的临床解释整合到电子病历（EMR）/电子病历（EHR）系统中，可以实现将这种个性化方法应用于常规实践的有效方法。如今，包括土耳其在内的世界许多国家已经建立了各种中央电子病历基础设施。目的作为开发复杂基础设施的最初尝试，我们致力于将个人单核苷酸多态性（SNP）数据整合到土耳其国家健康信息系统（NHIS-T）中，以进行疾病风险评估，并评估了各种预测性指标的性能前列腺癌病例的模型。我们以小型出版物的形式介绍我们的工作，其中包括三个部分：（1）要求概述，（2）将SNP纳入NHIS-T，以及（3）对纳入NHIS-T的SNP数据进行前列腺癌评估。方法对于该小型系列的第二篇文章，我们分析了现有的NHIS-T并提出了可能的扩展架构。根据文献调查和NHIS-T的特点，我们提出并提出了SNP结合NHIS-T的机遇和障碍。已经设计并开发了具有针对这些体系结构的补充功能（知识库和最终用户应用程序）的原型。结果在提出的体系结构中，临床相关的个人SNP（CR-SNP）和临床基因组关联通过NHIS-T基础结构在中央存储库和最终用户之间共享。要生成这些文件，我们需要开发国家级临床基因组学知识库。关于临床基因组决策支持，我们计划在最终用户应用程序上完成这些关联的解释。这种方法使我们可以灵活地添加/更新将由最终用户监视或收集的环境行为参数和家庭健康历史记录。结论我们的结果强调，即使现有的NHIS-T消息传递基础结构支持SNP数据和临床基因组学关联的集成，对于建立国家级，认可的知识库和更好的最终用户系统来解释基因组，临床，和环境行为参数。

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