Aggregation and Visualization of Laboratory Data by Using Ontological Tools Based on LOINC and SNOMED CT.

With the proliferation of digital communication in healthcare, the reuse of laboratory test data entails valuable insights into clinical and scientific issues, basically enabled by semantic standardization using the LOINC coding system. In order to extend the currently limited potential for analysis, which is mainly caused by structural peculiarities of LOINC, an algorithmic transformation of relevant content into an OWL ontology was performed, which includes LOINC Terms, Parts and Hierarchies. For extending analysis capabilities, the comprehensive SNOMED CT ontology is added by transferring its contents and the recently published LOINC-related mapping data into OWL ontologies. These formalizations offer rich, computer-processable content and allow to infer additional structures and relationships, especially when used together. Consequently, various reutilizations are facilitated; an application demonstrating the dynamic visualization of fractional hierarchy structures for user-supplied laboratory data was already implemented. By providing element-wise aggregation via superclasses, an adaptable, graph representation is obtained for studying categorizations.

MDRCupid: A Configurable Metadata Matching Toolbox.

Metadata matching is an important step towards integrating heterogeneous healthcare data and facilitating secondary use. MDRCupid supports this step by providing a configurable metadata matching toolbox incorporating lexical and statistical matching approaches. The matching configuration can be adapted to different purposes by manually selecting algorithms and their weights or by using the optimization module with corresponding training data. The toolbox can be accessed as a web service via programming or user interface. For every selected metadata element, the metadata elements with the highest similarity scores are presented to the user and can be manually confirmed via the user interface, while the programming interface uses a similarity threshold to select corresponding elements. An HL7 FHIR ConceptMap is used to save the matches. Manually confirmed matches may be used as new training data for the optimizer to improve the matching parameters further.

Scientific Challenge in eHealth: MAPPATHON, a Metadata Mapping Challenge.

Scientific challenges based on benchmark data enable the comparison and evaluation of different algorithms and take place regularly in scientific disciplines like medical image processing, text mining or genetics. The idea of a challenge is rarely applied within the eHealth community. Mappathon is a metadata mapping challenge that asks for methods to find corresponding data elements within similar datasets and to correlate data elements among each other.

Practical Extension of Provenance to Healthcare Data Based on the W3C PROV Standard.

Secondary use of healthcare data is dependent on the availability of provenance data for assessing its quality, reliability or trustworthiness. Usually, instance-level data that might be communicated by HL7 interfaces entail limited metadata about involved software systems, persons or organizations bearing responsibility for those systems. This paper proposes a strategy for capturing interoperable provenance data needed by data stewards for assessing healthcare data that are reused in a research context. Aimed at a realistic level of granularity even system-level metadata will support a data steward trying to trace the origins or provenance of healthcare data that have been transferred to the research context. Those metadata are extracted from the 3LGM2-system, used for modelling hospital information systems. Based on the W3C provenance specification interrelated activities, entities and agents can be integrated and stored in RDF triple stores and therefore queried and visualized.

Using Graph Tools on Metadata Repositories.

To exchange data across several sites or to interpret it at a later point in time, it is necessary to create a general understanding of the data. As a standard practice, this understanding is achieved through metadata. These metadata are usually stored in relational databases, so-called metadata repositories (MDR). Typical functions of such an MDR include pure storage, administration and other specific metadata functionalities such as finding relations among data elements. This results in a multitude of connections between the data elements, which can be described as highly interconnected graphs. To use alternative databases such as graph databases for modelling and visualisation it has already been proven to be beneficial in previous studies. The objective of this work is to evaluate how on-board techniques rely on matching and mapping using a graph database. Different datasets relating to cancer were entered, and algorithms for metadata management were applied.

Compatibility Between Metadata Standards: Import Pipeline of CDISC ODM to the Samply.MDR.

The establishment of a digital healthcare system is a national and community task. The Federal Ministry of Education and Research in Germany is providing funding for consortia consisting of university hospitals among others participating in the "Medical Informatics Initiative". Exchange of medical data between research institutions necessitates a place where meta information for this data is made accessible. Within these consortia different metadata registry solutions were chosen. To promote interoperability between these solutions, we have examined whether the portal of Medical Data Models is eligible for managing and communicating metadata and relevant information across different data integration centres of the Medical Informatics Initiative and beyond. Apart from the MDM-portal, some ISO 11179-based systems such as Samply.MDR as well as openEHR-based solutions are going to be applyed. In this paper, we have focused on the creation of a mapping model between the CDISC ODM standard and the Samply.MDR import format. In summary, it can be stated that the mapping model is feasible and promote the exchangeability between different metadata registry approaches.

Linked Data Applications Through Ontology Based Data Access in Clinical Research.

Clinical care and research data are widely dispersed in isolated systems based on heterogeneous data models. Biomedicine predominantly makes use of connected datasets based on the Semantic Web paradigm. Initiatives like Bio2RDF created Resource Description Framework (RDF) versions of Omics resources, enabling sophisticated Linked Data applications. In contrast, electronic healthcare records (EHR) data are generated and processed in diverse clinical subsystems within hospital information systems (HIS). Usually, each of them utilizes a relational database system with a different proprietary schema. Semantic integration and access to the data is hardly possible. This paper describes ways of using Ontology Based Data Access (OBDA) for bridging the semantic gap between existing raw data and user-oriented views supported by ontology-based queries. Based on mappings between entities of data schemas and ontologies data can be made available as materialized or virtualized RDF triples ready for querying and processing. Our experiments based on CentraXX for biobank and study management demonstrate the advantages of abstracting away from low level details and semantic mediation. Furthermore, it becomes clear that using a professional platform for Linked Data applications is recommended due to the inherent complexity, the inconvenience to confront end users with SPARQL, and scalability and performance issues.

Metadata Repository for Improved Data Sharing and Reuse Based on HL7 FHIR.

Unreconciled data structures and formats are a common obstacle to the urgently required sharing and reuse of data within healthcare and medical research. Within the North German Tumor Bank of Colorectal Cancer, clinical and sample data, based on a harmonized data set, is collected and can be pooled by using a hospital-integrated Research Data Management System supporting biobank and study management. Adding further partners who are not using the core data set requires manual adaptations and mapping of data elements. Facing this manual intervention and focusing the reuse of heterogeneous healthcare instance data (value level) and data elements (metadata level), a metadata repository has been developed. The metadata repository is an ISO 11179-3 conformant server application built for annotating and mediating data elements. The implemented architecture includes the translation of metadata information about data elements into the FHIR standard using the FHIR Data Element resource with the ISO 11179 Data Element Extensions. The FHIR-based processing allows exchange of data elements with clinical and research IT systems as well as with other metadata systems. With increasingly annotated and harmonized data elements, data quality and integration can be improved for successfully enabling data analytics and decision support.