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

An ICT infrastructure to integrate clinical and molecular data in oncology research

<p>Abstract</p> <p>Background</p> <p>The ONCO-i2b2 platform is a bioinformatics tool designed to integrate clinical and research data and support translational research in oncology. It is implemented by the University of Pavia and the IRCCS Fondazione Maugeri hospital (FSM), and grounded on the software developed by the Informatics for Integrating Biology and the Bedside (i2b2) research center. I2b2 has delivered an open source suite based on a data warehouse, which is efficiently interrogated to find sets of interesting patients through a query tool interface.</p> <p>Methods</p> <p>Onco-i2b2 integrates data coming from multiple sources and allows the users to jointly query them. I2b2 data are then stored in a data warehouse, where facts are hierarchically structured as ontologies. Onco-i2b2 gathers data from the FSM pathology unit (PU) database and from the hospital biobank and merges them with the clinical information from the hospital information system.</p> <p>Our main effort was to provide a robust integrated research environment, giving a particular emphasis to the integration process and facing different challenges, consecutively listed: biospecimen samples privacy and anonymization; synchronization of the biobank database with the i2b2 data warehouse through a series of Extract, Transform, Load (ETL) operations; development and integration of a Natural Language Processing (NLP) module, to retrieve coded information, such as SNOMED terms and malignant tumors (TNM) classifications, and clinical tests results from unstructured medical records. Furthermore, we have developed an internal SNOMED ontology rested on the NCBO BioPortal web services.</p> <p>Results</p> <p>Onco-i2b2 manages data of more than 6,500 patients with breast cancer diagnosis collected between 2001 and 2011 (over 390 of them have at least one biological sample in the cancer biobank), more than 47,000 visits and 96,000 observations over 960 medical concepts.</p> <p>Conclusions</p> <p>Onco-i2b2 is a concrete example of how integrated Information and Communication Technology architecture can be implemented to support translational research. The next steps of our project will involve the extension of its capabilities by implementing new plug-in devoted to bioinformatics data analysis as well as a temporal query module.</p

Agreeing on meaning: a fundamental sharing of health information

Topic: A preliminary study on the reproducibility of results when mapping terms from an existing terminology to SNOMED CT post-coordinated expressions is described. Background: Implementing SNOMED CT requires a strategy for migrating existing systems and data that currently use other terminologies as well as ensuring that SNOMED CT contains suitable content that covers the domain. Mapping terms from these terminologies to SNOMED CT is one element of such a strategy. Snapper is a tool designed to assist in this complex task and enable the creation of quality mappings. Methods: Ten terms from the ANZICS diagnosis codes were selected to be mapped according to specified guidelines. The resulting mapping expressions were compared with each other and discussions were conducted with the mapping participants to determine issues they encountered during the process. Results: Consistency was easily achievable with mapping to single concepts, but was more difficult when mapping to post-coordinated expressions. The difficulties were traced to a lack of specificity in the supplied guidelines resulting in uncertainty in structuring the representation of compound concepts

Integration of Neuroimaging and Microarray Datasets through Mapping and Model-Theoretic Semantic Decomposition of Unstructured Phenotypes

An approach towards heterogeneous neuroscience dataset integration is proposed that uses Natural Language Processing (NLP) and a knowledge-based phenotype organizer system (PhenOS) to link ontology-anchored terms to underlying data from each database, and then maps these terms based on a computable model of disease (SNOMED CT®). The approach was implemented using sample datasets from fMRIDC, GEO, The Whole Brain Atlas and Neuronames, and allowed for complex queries such as “List all disorders with a finding site of brain region X, and then find the semantically related references in all participating databases based on the ontological model of the disease or its anatomical and morphological attributes”. Precision of the NLP-derived coding of the unstructured phenotypes in each dataset was 88% (n = 50), and precision of the semantic mapping between these terms across datasets was 98% (n = 100). To our knowledge, this is the first example of the use of both semantic decomposition of disease relationships and hierarchical information found in ontologies to integrate heterogeneous phenotypes across clinical and molecular datasets

Semantic Ontologies for Complex Healthcare Structures: A Scoping Review

The healthcare environment is made up of highly complicated interactions between many technologies, activities, and people. Ensuring a solid communication between them is vital to ease the healthcare management. Semantic ontologies are knowledge representation tools that implement abstractions to fully describe a given topic in terms of subjects and relations. This scoping review aims to identify and analyse available ontologies which can depict all the available use-cases that describe the hospital environment in relation to the European project ODIN and its future expansion. The review has been conducted on the Scopus database on January 13th, 2023 using the PRISMA extensions for scoping reviews. Two reviewers screened 3,225 documents emerged from the database search. Further filtering led to a final set of 32 articles to be analysed for the results. A set of 34 ontologies extracted by the identified articles has been analysed and discussed as well. The results of this study will lead to the implementation of a common integrated ontology which could hold information about healthcare entities as well as their semantic relationships, strengthen data exchange and interconnections among people, devices and applications in an expanded scenario which include Internet of Things, robots and Artificial Intelligence

SemEHR:A general-purpose semantic search system to surface semantic data from clinical notes for tailored care, trial recruitment, and clinical research

OBJECTIVE: Unlocking the data contained within both structured and unstructured components of electronic health records (EHRs) has the potential to provide a step change in data available for secondary research use, generation of actionable medical insights, hospital management, and trial recruitment. To achieve this, we implemented SemEHR, an open source semantic search and analytics tool for EHRs. METHODS: SemEHR implements a generic information extraction (IE) and retrieval infrastructure by identifying contextualized mentions of a wide range of biomedical concepts within EHRs. Natural language processing annotations are further assembled at the patient level and extended with EHR-specific knowledge to generate a timeline for each patient. The semantic data are serviced via ontology-based search and analytics interfaces. RESULTS: SemEHR has been deployed at a number of UK hospitals, including the Clinical Record Interactive Search, an anonymized replica of the EHR of the UK South London and Maudsley National Health Service Foundation Trust, one of Europe's largest providers of mental health services. In 2 Clinical Record Interactive Search-based studies, SemEHR achieved 93% (hepatitis C) and 99% (HIV) F-measure results in identifying true positive patients. At King's College Hospital in London, as part of the CogStack program (github.com/cogstack), SemEHR is being used to recruit patients into the UK Department of Health 100 000 Genomes Project (genomicsengland.co.uk). The validation study suggests that the tool can validate previously recruited cases and is very fast at searching phenotypes; time for recruitment criteria checking was reduced from days to minutes. Validated on open intensive care EHR data, Medical Information Mart for Intensive Care III, the vital signs extracted by SemEHR can achieve around 97% accuracy. CONCLUSION: Results from the multiple case studies demonstrate SemEHR's efficiency: weeks or months of work can be done within hours or minutes in some cases. SemEHR provides a more comprehensive view of patients, bringing in more and unexpected insight compared to study-oriented bespoke IE systems. SemEHR is open source, available at https://github.com/CogStack/SemEHR

Multisource agent-based healthcare data gathering

The number and type of digital sources storing healthcare data is increasing more and more, rising the problem of collecting actually dispersed information about a single patient. In this paper we propose an agent-based system to support integration of health-related data extracted from both structured (HIS) and semi-structured (websites and social networks) sources. Integrated data are exported in HL7 format to finally feed personal health record (PHR)

Medical Informatics

Information technology has been revolutionizing the everyday life of the common man, while medical science has been making rapid strides in understanding disease mechanisms, developing diagnostic techniques and effecting successful treatment regimen, even for those cases which would have been classified as a poor prognosis a decade earlier. The confluence of information technology and biomedicine has brought into its ambit additional dimensions of computerized databases for patient conditions, revolutionizing the way health care and patient information is recorded, processed, interpreted and utilized for improving the quality of life. This book consists of seven chapters dealing with the three primary issues of medical information acquisition from a patient's and health care professional's perspective, translational approaches from a researcher's point of view, and finally the application potential as required by the clinicians/physician. The book covers modern issues in Information Technology, Bioinformatics Methods and Clinical Applications. The chapters describe the basic process of acquisition of information in a health system, recent technological developments in biomedicine and the realistic evaluation of medical informatics