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The need for integrating genomic data into daily clinical practice raises the demand for tools capable of representing individuals’ data and also their biological relationships with other individuals. In this work, we introduce genoDraw, a new platform for creating and managing pedigree diagrams following biomedical standards. The proposed work focuses in five critical aspects for the adoption of this platform in the clinical practice, namely: data-drivenness, automation, interactivity, comprehensiveness and compatibility with widely-adopted biomedical vocabularies for the annotation of traits and characteristics. We present a novel process for generating pedigree diagrams from individual data. This process generates pedigree diagrams that comply with the pedigree nomenclature used as a defacto standard in the area. We implemented the system as a web platform for ensuring complete compatibility. We also performed an evaluation process, which included usability tests, and the results show a promising adequacy for the usage in the clinical practice.

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.

Current post-genomic clinical trials in cancer involve the collaboration of several institutions. Multi-centric retrospective analysis requires advanced methods to ensure semantic interoperability. In this scenario, the objective of the EU funded INTEGRATE project, is to provide an infrastructure to share knowledge and data in post-genomic breast cancer clinical trials. This paper presents the process carried out in this project, to bind domain terminologies in the area, such as SNOMED CT, with the HL7 v3 Reference Information Model (RIM). The proposed terminology binding follow the HL7 recommendations, but should also consider important issues such as overlapping concepts and domain terminology coverage. Although there are limitations due to the large heterogeneity of the data in the area, the proposed process has been successfully applied within the context of the INTEGRATE project. An improvement in semantic interoperability of patient data from modern breast cancer clinical trials, aims to enhance the clinical practice in oncology.

Breast cancer clinical trial researchers have to handle heterogeneous data coming from different data sources, overloading biomedical researchers when they need to query data for retrospective analysis. This paper presents the Common Data Model (CDM) proposed within the INTEGRATE EU project to homogenize data coming from different clinical partners. This CDM is based on the Reference Information Model (RIM)from the Health Level 7 (HL7) version 3. Semantic capabilities through an SPARQL endpoint were also required to ensure the sustainability of the platform. For the SPARQL endpoint implementation, a comparison has been carried out between a Relational SQL database + D2R and a RDF database. The results show that the first option can store all clinical data received from institutions participating in the project with a better performance. It has been also evaluated by the EU Commission within a patient recruitment demonstrator.

Current research in oncology, require the involvement of several institutions participating in clinical trials. Heterogeneities of data formats and models require advanced methods to achieve semantic interoperability and provide sustainable solutions. In this field, the EU funded INTEGRATE project aims to develop the basic knowledge to allow data sharing of data from post-genomic clinical trials on breast cancer. In this paper, we describe the procedure implemented in this project and the required binding between relevant terminologies such as SNOMED CT and an HL7 v3 Reference Information Model (RIM)-based data model. After following theHL7 recommendations, we also describe the main issues of this process and the proposed solution, such as concept overlapping and coverage of the domain terminology. Despite the fact that the data from this domain presents a high level of heterogeneity, the methods and solutions introduced in this paper have been successfully applied within the INTEGRATE project context. Results suggest that the level of semantic interoperability required to manage patient data in modern clinical trials on breast cancer can be achieved with the proposed methodology.

Managing large medical image collections is an increasingly demanding important issue in many hospitals and other medical settings. A huge amount of this information is daily generated, which requires robust and agile systems. In this paper we present a distributed multi-agent system capable of managing very large medical image datasets. In this approach, agents extract low-level information from images and store them in a data structure implemented in a relational database. The data structure can also store semantic information related to images and particular regions. A distinctive aspect of our work is that a single image can be divided so that the resultant sub-images can be stored and managed separately by different agents to improve performance in data accessing and processing. The system also offers the possibility of applying some region-based operations and filters on images, facilitating image classification. These operations can be performed directly on data structures in the database.

En el campo de la biomedicina se genera una inmensa cantidad de imágenes diariamente. Para administrarlas es necesaria la creación de sistemas informáticos robustos y ágiles, que necesitan gran cantidad de recursos computacionales. El presente artículo presenta un servicio de cloud computing capaz de manejar grandes colecciones de imágenes biomédicas. Gracias a este servicio organizaciones y usuarios podrían administrar sus imágenes biomédicas sin necesidad de poseer grandes recursos informáticos. El servicio usa un sistema distribuido multi agente donde las imágenes son procesadas y se extraen y almacenan en una estructura de datos las regiones que contiene junto con sus características. Una característica novedosa del sistema es que una misma imagen puede ser dividida, y las sub-imágenes resultantes pueden ser almacenadas por separado por distintos agentes. Esta característica ayuda a mejorar el rendimiento del sistema a la hora de buscar y recuperar las imágenes almacenadas.

El objetivo del sistema INFOGENMED es facilitar la recuperación homogénea de información, a través de Internet, proporcionando un acceso unificado a múltiples y diversas bases de datos relaciónales remotas ya existentes. La investigación desarrollada parte de la idea de que un conjunto de bases de datos heterogéneas forma un espacio de información único. La arquitectura del sistema trata de facilitar al usuario el acceso a toda la información disponible, a la que se tiene acceso a través de las bases de datos registradas en el sistema, de forma intuitiva y directa. El sistema pretende, por un lado, permitir la integración de diferentes esquemas lógicos de bases de datos relaciónales, y por otro, establecer una arquitectura distribuida estándar, no condicionada a productos propietarios, que facilite la conexión de cualquier base de datos. Como infraestructura tecnológica se propone el uso de agentes inteligentes, que dan al sistema mayor flexibilidad y eficiencia, facilitando las tareas de integración y búsquedas, aspectos desarrollados en el artículo.