Medical Informatics Group, University Hospital Frankfurt, Frankfurt, Germany.
Scottish Centre for Respiratory Research, University of Dundee, Dundee, United Kingdom.
Stud Health Technol Inform. 2021 May 24;278:41-48. doi: 10.3233/SHTI210049.
Rare lung diseases affect 1.5-3 million people in Europe while causing bad prognosis or early deaths for patients. The European Reference Network for Respiratory Diseases (ERN-Lung) is a patient centric network, funded by the European Union (EU). The aims of ERN-LUNG is to increase healthcare and research regarding rare respiratory diseases. An initial need for cross-border healthcare and research is the use of registries and databases. A typical problem in registries for RDs is the data exchange, since the registries use different kind of data with different types or descriptions. Therefore, ERN-Lung decided to create a new Registry Data-Warehouse (RDW) where different existing registries are connected to enable cross-border healthcare within ERN-Lung. This work facilitates the aims, conception and implementation for the RDW, while considering a semantic interoperability approach. We created a common dataset (CDS) to have a common descriptions of respiratory diseases patients within the ERN registries. We further developed the RDW based on Open Source Registry System for Rare Diseases (OSSE), which includes a Metadata Repository with the Samply.MDR to unique describe data for the minimal dataset. Within the RDW, data from existing registries is not stored in a central database. The RDW uses the approach of the "Decentral Search" and can send requests to the connected registries, whereas only aggregated data is returned about how many patients with specific characteristics are available. However, further work is needed to connect the different existing registries to the RDW and to perform first studies.
罕见肺病影响欧洲 150 万至 300 万人，导致患者预后不良或早亡。欧洲呼吸疾病参考网络（ERN-Lung）是一个以患者为中心的网络，由欧盟（EU）资助。ERN-Lung 的目标是增加对罕见呼吸疾病的医疗保健和研究。跨境医疗和研究的初步需求是使用登记册和数据库。登记册中用于 RD 的一个典型问题是数据交换，因为登记册使用不同类型或描述的数据。因此，ERN-Lung 决定创建一个新的登记数据仓库（RDW），将不同的现有登记册连接起来，以实现 ERN-Lung 内的跨境医疗保健。这项工作促进了 RDW 的目标、概念和实施，同时考虑了语义互操作性方法。我们创建了一个通用数据集（CDS），以便在 ERN 登记册中对呼吸疾病患者进行通用描述。我们进一步基于开源罕见疾病登记系统（OSSE）开发了 RDW，其中包括一个带有 Samply.MDR 的元数据存储库，用于唯一描述最小数据集的数据。在 RDW 中，现有登记册中的数据不会存储在中央数据库中。RDW 使用“分散式搜索”的方法，可以向连接的登记册发送请求，而只返回有关具有特定特征的患者数量的聚合数据。然而，还需要进一步的工作来将不同的现有登记册连接到 RDW，并进行初步研究。
