A Novel Ontology and Machine Learning Driven Hybrid Clinical Decision Support Framework for Cardiovascular Preventative Care

Clinical risk assessment of chronic illnesses is a challenging and complex task which requires the utilisation of standardised clinical practice guidelines and documentation procedures in order to ensure consistent and efficient patient care. Conventional cardiovascular decision support systems have significant limitations, which include the inflexibility to deal with complex clinical processes, hard-wired rigid architectures based on branching logic and the inability to deal with legacy patient data without significant software engineering work. In light of these challenges, we are proposing a novel ontology and machine learning-driven hybrid clinical decision support framework for cardiovascular preventative care. An ontology-inspired approach provides a foundation for information collection, knowledge acquisition and decision support capabilities and aims to develop context sensitive decision support solutions based on ontology engineering principles. The proposed framework incorporates an ontology-driven clinical risk assessment and recommendation system (ODCRARS) and a Machine Learning Driven Prognostic System (MLDPS), integrated as a complete system to provide a cardiovascular preventative care solution. The proposed clinical decision support framework has been developed under the close supervision of clinical domain experts from both UK and US hospitals and is capable of handling multiple cardiovascular diseases. The proposed framework comprises of two novel key components: (1) ODCRARS (2) MLDPS. The ODCRARS is developed under the close supervision of consultant cardiologists Professor Calum MacRae from Harvard Medical School and Professor Stephen Leslie from Raigmore Hospital in Inverness, UK. The ODCRARS comprises of various components, which include: (a) Ontology-driven intelligent context-aware information collection for conducting patient interviews which are driven through a novel clinical questionnaire ontology. (b) A patient semantic profile, is generated using patient medical records which are collated during patient interviews (conducted through an ontology-driven context aware adaptive information collection component). The semantic transformation of patients’ medical data is carried out through a novel patient semantic profile ontology in order to give patient data an intrinsic meaning and alleviate interoperability issues with third party healthcare systems. (c) Ontology driven clinical decision support comprises of a recommendation ontology and a NICE/Expert driven clinical rules engine. The recommendation ontology is developed using clinical rules provided by the consultant cardiologist from the US hospital. The recommendation ontology utilises the patient semantic profile for lab tests and medication recommendation. A clinical rules engine is developed to implement a cardiac risk assessment mechanism for various cardiovascular conditions. The clinical rules engine is also utilised to control the patient flow within the integrated cardiovascular preventative care solution. The machine learning-driven prognostic system is developed in an iterative manner using state of the art feature selection and machine learning techniques. A prognostic model development process is exploited for the development of MLDPS based on clinical case studies in the cardiovascular domain. An additional clinical case study in the breast cancer domain is also carried out for the development and validation purposes. The prognostic model development process is general enough to handle a variety of healthcare datasets which will enable researchers to develop cost effective and evidence based clinical decision support systems. The proposed clinical decision support framework also provides a learning mechanism based on machine learning techniques. Learning mechanism is provided through exchange of patient data amongst the MLDPS and the ODCRARS. The machine learning-driven prognostic system is validated using Raigmore Hospital's RACPC, heart disease and breast cancer clinical case studies

A novel ontology and machine learning driven hybrid cardiovascular clinical prognosis as a complex adaptive clinical system

PurposeThis multidisciplinary industrial research project sets out to develop a hybrid clinical decision support mechanism (inspired by ontology and machine learning driven techniques) by combining evidence, extrapolated through legacy patient data to facilitate cardiovascular preventative care.MethodsThe proposed cardiovascular clinical decision support framework comprises of two novel key components: (1) Ontology driven clinical risk assessment and recommendation system (ODCRARS) (2) Machine learning driven prognostic system (MLDPS). State of the art machine learning and feature selection methods are utilised for the prognostic modelling purposes. The ODCRARS is a knowledge-based system which is based on clinical expert’s knowledge, encoded in the form of clinical rules engine to carry out cardiac risk assessment for various cardiovascular diseases. The MLDPS is a non knowledge-based/data driven system which is developed using state of the art machine learning and feature selection techniques applied on real patient datasets. Clinical case studies in the RACPC, heart disease and breast cancer domains are considered for the development and clinical validation purposes. For the purpose of this paper, clinical case study in the RACPC/chest pain domain will be discussed in detail from the development and validation perspective.ResultsThe proposed clinical decision support framework is validated through clinical case studies in the cardiovascular domain. This paper demonstrates an effective cardiovascular decision support mechanism for handling inaccuracies in the clinical risk assessment of chest pain patients and help clinicians effectively distinguish acute angina/cardiac chest pain patients from those with other causes of chest pain.ConclusionThe new clinical models, having been evaluated in clinical practice, resulted in very good predictive power, demonstrating general performance improvement over benchmark multivariate statistical classifiers. Various chest pain risk assessment prototypes have been developed and deployed online for further clinical trials

The Infectious Disease Ontology in the Age of COVID-19

The Infectious Disease Ontology (IDO) is a suite of interoperable ontology modules that aims to provide coverage of all aspects of the infectious disease domain, including biomedical research, clinical care, and public health. IDO Core is designed to be a disease and pathogen neutral ontology, covering just those types of entities and relations that are relevant to infectious diseases generally. IDO Core is then extended by a collection of ontology modules focusing on specific diseases and pathogens. In this paper we present applications of IDO Core within various areas of infectious disease research, together with an overview of all IDO extension ontologies and the methodology on the basis of which they are built. We also survey recent developments involving IDO, including the creation of IDO Virus; the Coronaviruses Infectious Disease Ontology (CIDO); and an extension of CIDO focused on COVID-19 (IDO-CovID-19).We also discuss how these ontologies might assist in information-driven efforts to deal with the ongoing COVID-19 pandemic, to accelerate data discovery in the early stages of future pandemics, and to promote reproducibility of infectious disease research

Semantic Integration of Cervical Cancer Data Repositories to Facilitate Multicenter Association Studies: The ASSIST Approach

The current work addresses the unifi cation of Electronic Health Records related to cervical cancer into a single medical knowledge source, in the context of the EU-funded ASSIST research project. The project aims to facilitate the research for cervical precancer and cancer through a system that virtually unifi es multiple patient record repositories, physically located in different medical centers/hospitals, thus, increasing fl exibility by allowing the formation of study groups “on demand” and by recycling patient records in new studies. To this end, ASSIST uses semantic technologies to translate all medical entities (such as patient examination results, history, habits, genetic profi le) and represent them in a common form, encoded in the ASSIST Cervical Cancer Ontology. The current paper presents the knowledge elicitation approach followed, towards the defi nition and representation of the disease’s medical concepts and rules that constitute the basis for the ASSIST Cervical Cancer Ontology. The proposed approach constitutes a paradigm for semantic integration of heterogeneous clinical data that may be applicable to other biomedical application domains

Making AI Meaningful Again

Artificial intelligence (AI) research enjoyed an initial period of enthusiasm in the 1970s and 80s. But this enthusiasm was tempered by a long interlude of frustration when genuinely useful AI applications failed to be forthcoming. Today, we are experiencing once again a period of enthusiasm, fired above all by the successes of the technology of deep neural networks or deep machine learning. In this paper we draw attention to what we take to be serious problems underlying current views of artificial intelligence encouraged by these successes, especially in the domain of language processing. We then show an alternative approach to language-centric AI, in which we identify a role for philosophy

SNOMED CT standard ontology based on the ontology for general medical science

Background: Systematized Nomenclature of Medicine—Clinical Terms (SNOMED CT, hereafter abbreviated SCT) is acomprehensive medical terminology used for standardizing the storage, retrieval, and exchange of electronic healthdata. Some efforts have been made to capture the contents of SCT as Web Ontology Language (OWL), but theseefforts have been hampered by the size and complexity of SCT. Method: Our proposal here is to develop an upper-level ontology and to use it as the basis for defining the termsin SCT in a way that will support quality assurance of SCT, for example, by allowing consistency checks ofdefinitions and the identification and elimination of redundancies in the SCT vocabulary. Our proposed upper-levelSCT ontology (SCTO) is based on the Ontology for General Medical Science (OGMS). Results: The SCTO is implemented in OWL 2, to support automatic inference and consistency checking. Theapproach will allow integration of SCT data with data annotated using Open Biomedical Ontologies (OBO) Foundryontologies, since the use of OGMS will ensure consistency with the Basic Formal Ontology, which is the top-levelontology of the OBO Foundry. Currently, the SCTO contains 304 classes, 28 properties, 2400 axioms, and 1555annotations. It is publicly available through the bioportal athttp://bioportal.bioontology.org/ontologies/SCTO/. Conclusion: The resulting ontology can enhance the semantics of clinical decision support systems and semanticinteroperability among distributed electronic health records. In addition, the populated ontology can be used forthe automation of mobile health applications

Towards data grids for microarray expression profiles

The UK DTI funded Biomedical Research Informatics Delivered by Grid Enabled Services (BRIDGES) project developed a Grid infrastructure through which research into the genetic causes of hypertension could be supported by scientists within the large Wellcome Trust funded Cardiovascular Functional Genomics project. The BRIDGES project had a focus on developing a compute Grid and a data Grid infrastructure with security at its heart. Building on the work within BRIDGES, the BBSRC funded Grid enabled Microarray Expression Profile Search (GEMEPS) project plans to provide an enhanced data Grid infrastructure to support richer queries needed for the discovery and analysis of microarray data sets, also based upon a fine-grained security infrastructure. This paper outlines the experiences gained within BRIDGES and outlines the status of the GEMEPS project, the open challenges that remain and plans for the future