Biomedical Informatics Group, DIA & DLSIIS, ETSI Informáticos, Universidad Politécnica de Madrid, Spain.
Department of Oncology, Old Road Campus Research Building, Oxford, OX3 7DQ, United Kingdom.
Comput Biol Med. 2017 Aug 1;87:179-186. doi: 10.1016/j.compbiomed.2017.06.005. Epub 2017 Jun 5.
The introduction of omics data and advances in technologies involved in clinical treatment has led to a broad range of approaches to represent clinical information. Within this context, patient stratification across health institutions due to omic profiling presents a complex scenario to carry out multi-center clinical trials.
This paper presents a standards-based approach to ensure semantic integration required to facilitate the analysis of clinico-genomic clinical trials. To ensure interoperability across different institutions, we have developed a Semantic Interoperability Layer (SIL) to facilitate homogeneous access to clinical and genetic information, based on different well-established biomedical standards and following International Health (IHE) recommendations.
The SIL has shown suitability for integrating biomedical knowledge and technologies to match the latest clinical advances in healthcare and the use of genomic information. This genomic data integration in the SIL has been tested with a diagnostic classifier tool that takes advantage of harmonized multi-center clinico-genomic data for training statistical predictive models.
The SIL has been adopted in national and international research initiatives, such as the EURECA-EU research project and the CIMED collaborative Spanish project, where the proposed solution has been applied and evaluated by clinical experts focused on clinico-genomic studies.
组学数据的引入和临床治疗相关技术的进步，催生了丰富的临床信息表示方法。在此背景下，由于组学分析导致患者在医疗机构之间的分层，给开展多中心临床试验带来了复杂的局面。
本文提出了一种基于标准的方法，以确保临床基因组学试验分析所需的语义集成。为了确保不同机构之间的互操作性，我们开发了语义互操作层 (SIL)，以基于不同成熟的生物医学标准并遵循国际卫生（IHE）建议，实现对临床和遗传信息的同质访问。
SIL 已被证明适合整合生物医学知识和技术，以匹配医疗保健领域的最新临床进展和基因组信息的使用。该 SIL 中的基因组数据集成已通过一个诊断分类器工具进行了测试，该工具利用多中心临床基因组数据进行了训练，以建立统计预测模型。
SIL 已被国家和国际研究计划采用，例如 EURECA-EU 研究项目和西班牙 CIMED 合作项目，临床专家在专注于临床基因组学研究的情况下，已经对提出的解决方案进行了应用和评估。
