Analysis of the suitability of existing medical ontologies for building a scalable semantic interoperability solution supporting multi-site collaboration in oncology

Semantic interoperability is essential to facilitate efficient collaboration in heterogeneous multi-site healthcare environments. The deployment of a semantic interoperability solution has the potential to enable a wide range of informatics supported applications in clinical care and research both within as ingle healthcare organization and in a network of organizations. At the same time, building and deploying a semantic interoperability solution may require significant effort to carryout data transformation and to harmonize the semantics of the information in the different systems. Our approach to semantic interoperability leverages existing healthcare standards and ontologies, focusing first on specific clinical domains and key applications, and gradually expanding the solution when needed. An important objective of this work is to create a semantic link between clinical research and care environments to enable applications such as streamlining the execution of multi-centric clinical trials, including the identification of eligible patients for the trials. This paper presents an analysis of the suitability of several widely-used medical ontologies in the clinical domain: SNOMED-CT, LOINC, MedDRA, to capture the semantics of the clinical trial eligibility criteria, of the clinical trial data (e.g., Clinical Report Forms), and of the corresponding patient record data that would enable the automatic identification of eligible patients. Next to the coverage provided by the ontologies we evaluate and compare the sizes of the sets of relevant concepts and their relative frequency to estimate the cost of data transformation, of building the necessary semantic mappings, and of extending the solution to new domains. This analysis shows that our approach is both feasible and scalable

Supporting patient screening to identify suitable clinical trials.

To support the efficient execution of post-genomic multi-centric clinical trials in breast cancer we propose a solution that streamlines the assessment of the eligibility of patients for available trials. The assessment of the eligibility of a patient for a trial requires evaluating whether each eligibility criterion is satisfied and is often a time consuming and manual task. The main focus in the literature has been on proposing different methods for modelling and formalizing the eligibility criteria. However the current adoption of these approaches in clinical care is limited. Less effort has been dedicated to the automatic matching of criteria to the patient data managed in clinical care. We address both aspects and propose a scalable, efficient and pragmatic patient screening solution enabling automatic evaluation of eligibility of patients for a relevant set of trials. This covers the flexible formalization of criteria and of other relevant trial metadata and the efficient management of these representations

A semantic interoperability approach to support integration of gene expression and clinical data in breast cancer

[Abstract] Introduction. 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. Methods. 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. Results. 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. Conclusions. 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.Instituto de Salud Carlos III, PI13/02020Instituto de Salud Carlos III, PI13/0028

SNOMED2HL7: a tool to normalize and bind SNOMED CT concepts to the HL7 Reference Information Model

[Abstract] BACKGROUND: Current clinical research and practice requires interoperability among systems in a complex and highly dynamic domain. There has been a significant effort in recent years to develop integrative common data models and domain terminologies. Such efforts have not completely solved the challenges associated with clinical data that are distributed among different and heterogeneous institutions with different systems to encode the information. Currently, when providing homogeneous interfaces to exploit clinical data, certain transformations still involve manual and time-consuming processes that could be automated. OBJECTIVES: There is a lack of tools to support data experts adopting clinical standards. This absence is especially significant when links between data model and vocabulary are required. The objective of this work is to present SNOMED2HL7, a novel tool to automatically link biomedical concepts from widely used terminologies, and the corresponding clinical context, to the HL7 Reference Information Model (RIM). METHODS: Based on the recommendations of the International Health Terminology Standards Development Organisation (IHTSDO), the SNOMED Normal Form has been implemented within SNOMED2HL7 to decompose and provide a method to reduce the number of options to store the same information. The binding of clinical terminologies to HL7 RIM components is the core of SNOMED2HL7, where terminology concepts have been annotated with the corresponding options within the interoperability standard. A web-based tool has been developed to automatically provide information from the normalization mechanisms and the terminology binding. RESULTS: SNOMED2HL7 binding coverage includes the majority of the concepts used to annotate legacy systems. It follows HL7 recommendations to solve binding overlaps and provides the binding of the normalized version of the concepts. The first version of the tool, available at http://kandel.dia.fi.upm.es:8078, has been validated in EU funded projects to integrate real world data for clinical research with an 88.47% of accuracy. CONCLUSIONS: This paper presents the first initiative to automatically retrieve concept-centered information required to transform legacy data into widely adopted interoperability standards. Although additional functionality will extend capabilities to automate data transformations, SNOMED2HL7 already provides the functionality required for the clinical interoperability community.Instituto de Salud Carlos III; PI13/0202

A modular multipurpose, parameter centered electronic health record architecture

Health Information Technology is playing a key role in healthcare. Specifically, the use of electronic health records has been found to bring about most significant improvements in healthcare quality, mainly as relates to patient management, healthcare delivery and research support. Health record systems adoption has been promoted in many countries to support efficient, high quality integrated healthcare. The objective of this work is the implementation of an Electronic Health Record system based on a relational database. The system architecture is modular and based on the concentration of specific pathology related parameters in one module, therefore the system can be easily applied to different pathologies. Several examples of its application are described. It is intended to extend the system integrating genomic data

Desarrollo de un servicio de enlace entre HL7 RIM y terminologías médicas

Hoy día, en la era post genómica, los ensayos clínicos de cáncer implican la colaboración de diversas instituciones. El análisis multicéntrico y retrospectivo requiere de métodos avanzados para garantizar la interoperabilidad semántica. En este escenario, el objetivo de los proyectos EURECA e INTEGRATE es proporcionar una infraestructura para compartir conocimientos y datos de los ensayos clínicos post genómicos de cáncer. Debido en gran parte a la gran complejidad de los procesos colaborativos de las instituciones, provoca que la gestión de una información tan heterogénea sea un desafío dentro del área médica. Las tecnologías semánticas y las investigaciones relacionadas están centradas en búsqueda de conocimiento de la información extraída, permitiendo una mayor flexibilidad y usabilidad de los datos extraidos. Debido a la falta de estándares adoptados por estas entidades y la complejidad de los datos procedentes de ensayos clínicos, una capacidad semántica es esencial para asegurar la integración homogénea de esta información. De otra manera, los usuarios finales necesitarán conocer cada modelo y cada formato de dato de las instituciones participantes en cada estudio. Para proveer de una capa de interoperabilidad semántica, el primer paso es proponer un\Common Data Model" (CDM) que represente la información a almacenar, y un \Core Dataset" que permita el uso de múltiples terminologías como vocabulario compartido. Una vez que el \Core Dataset" y el CDM han sido seleccionados, la manera en la que realizar el mapping para unir los conceptos de una terminología dada al CDM, requiere de una mecanismo especial para realizar dicha labor. Dicho mecanismo, debe definir que conceptos de diferentes vocabularios pueden ser almacenados en determinados campos del modelo de datos, con la finalidad de crear una representación común de la información. El presente proyecto fin de grado, presenta el desarrollo de un servicio que implementa dicho mecanismo para vincular elementos de las terminologías médicas SNOMED CT, LOINC y HGNC, con objetos del \Health Level 7 Reference Information Model" (HL7 RIM). El servicio propuesto, y nombrado como TermBinding, sigue las recomendaciones del proyecto TermInfo del grupo HL7, pero también se tienen en cuenta cuestiones importantes que surgen al enlazar entre las citadas terminologas y el modelo de datos planteado. En este proceso de desarrollo de la interoperabilidad semántica en ensayos clínicos de cáncer, los datos de fuentes heterogéneas tienen que ser integrados, y es requisito que se deba habilitar una interfaz de acceso homogéneo a toda esta información. Para poder hacer unificar los datos provenientes de diferentes aplicaciones y bases de datos, es esencial representar todos estos datos de una manera canónica o normalizada. La estandarización de un determinado concepto de SNOMED CT, simplifica las recomendaciones del proyecto TermInfo del grupo HL7, utilizadas para poder almacenar cada concepto en el modelo de datos. Siguiendo este enfoque, la interoperabilidad semántica es conseguida con éxito para conceptos SNOMED CT, sean o no post o pre coordinados, así como para las terminologías LOINC y HGNC. Los conceptos son estandarizados en una forma normal que puede ser usada para unir los datos al \Common Data Model" basado en el RIM de HL7. Aunque existen limitaciones debido a la gran heterogeneidad de los datos a integrar, un primer prototipo del servicio propuesto se está utilizando con éxito en el contexto de los proyectos EURECA e INTEGRATE. Una mejora en la interoperabilidad semántica de los datos de ensayos clínicos de cáncer tiene como objetivo mejorar las prácticas en oncología

Quantitative imaging in radiation oncology

Artificially intelligent eyes, built on machine and deep learning technologies, can empower our capability of analysing patients’ images. By revealing information invisible at our eyes, we can build decision aids that help our clinicians to provide more effective treatment, while reducing side effects. The power of these decision aids is to be based on patient tumour biologically unique properties, referred to as biomarkers. To fully translate this technology into the clinic we need to overcome barriers related to the reliability of image-derived biomarkers, trustiness in AI algorithms and privacy-related issues that hamper the validation of the biomarkers. This thesis developed methodologies to solve the presented issues, defining a road map for the responsible usage of quantitative imaging into the clinic as decision support system for better patient care