Open Biomedical Ontologies Applied to Prostate Cancer

In this presentation we survey preliminary results from the Interdisciplinary Prostate Ontology Project (IPOP), in which ontologies from the Open Biomedical Ontologies (OBO) library have been used to annotate clinical reports about prostate cancer. First we discuss why we rejected several controlled vocabularies, including SNOMED, DICOM, and RadLex, preferring instead to use the OBO library. We then briefly describe the database-backed website we have created around the relevant OBO ontologies, and provide excerpts of reports from radiology, surgery, and pathology which we have hyperlinked to the ontology terms. This method allows us to discover which relevant terms exist in the OBO library, and which do not. The final section of this paper discusses these gaps in the OBO library and considers methods of filling them

An architecture to support ultrasound report generation and standardisation

Ultrasound reports are developed in different ways by clinicians and radiologists. These variations in reporting style, content and format could impact on the value of the report and the way it is interpreted, which in turn have implications on patient management and decision making. There are many reasons for the poor success rate of some reporting systems which is usually down to poor adaptability and the main one being the human factor. In this paper, we present a system architecture model for a proposed medical ultrasound reporting system that attempt to address some of these problems. In this system, we propose a solution where humans will not need to adapt to the system, instead the system acknowledge the various styles, contents and format being produced by the humans and uses an ontology to standardise the terminology and Natural Language Processing techniques to transform free text reports to the preferred proposed model of a structured and standardised report

Open biomedical pluralism : formalising knowledge about breast cancer phenotypes

We demonstrate a heterogeneity of representation types for breast cancer phenotypes and stress that the characterisation of a tumour phenotype often includes parameters that go beyond the representation of a corresponding empirically observed tumour, thus reflecting significant functional features of the phenotypes as well as epistemic interests that drive the modes of representation. Accordingly, the represented features of cancer phenotypes function as epistemic vehicles aiding various classifications, explanations, and predictions. In order to clarify how the plurality of epistemic motivations can be integrated on a formal level, we give a distinction between six categories of human agents as individuals and groups focused around particular epistemic interests. We analyse the corresponding impact of these groups and individuals on representation types, mapping and reasoning scenarios. Respecting the plurality of representations, related formalisms, expressivities and aims, as they are found across diverse scientific communities, we argue for a pluralistic ontology integration. Moreover, we discuss and illustrate to what extent such a pluralistic integration is supported by the distributed ontology language DOL, a meta-language for heterogeneous ontology representation that is currently under standardisation as ISO WD 17347 within the OntoIOp (Ontology Integration and Interoperability) activity of ISO/TC 37/SC 3. We particularly illustrate how DOL supports representations of parthood on various levels of logical expressivity, mapping of terms, merging of ontologies, as well as non-monotonic extensions based on circumscription allowing a transparent formal modelling of the normal/abnormal distinction in phenotypes

ACLRO: An Ontology for the Best Practice in ACLR Rehabilitation

Indiana University-Purdue University Indianapolis (IUPUI)With the rise of big data and the demands for leveraging artificial intelligence (AI), healthcare requires more knowledge sharing that offers machine-readable semantic formalization. Even though some applications allow shared data interoperability, they still lack formal machine-readable semantics in ICD9/10 and LOINC. With ontology, the further ability to represent the shared conceptualizations is possible, similar to SNOMED-CT. Nevertheless, SNOMED-CT mainly focuses on electronic health record (EHR) documenting and evidence-based practice. Moreover, due to its independence on data quality, the ontology enhances advanced AI technologies, such as machine learning (ML), by providing a reusable knowledge framework. Developing a machine-readable and sharable semantic knowledge model incorporating external evidence and individual practice’s values will create a new revolution for best practice medicine. The purpose of this research is to implement a sharable ontology for the best practice in healthcare, with anterior cruciate ligament reconstruction (ACLR) as a case study. The ontology represents knowledge derived from both evidence-based practice (EBP) and practice-based evidence (PBE). First, the study presents how the domain-specific knowledge model is built using a combination of Toronto Virtual Enterprise (TOVE) and a bottom-up approach. Then, I propose a top-down approach using Open Biological and Biomedical Ontology (OBO) Foundry ontologies that adheres to the Basic Formal Ontology (BFO)’s framework. In this step, the EBP, PBE, and statistic ontologies are developed independently. Next, the study integrates these individual ontologies into the final ACLR Ontology (ACLRO) as a more meaningful model that endorses the reusability and the ease of the model-expansion process since the classes can grow independently from one another. Finally, the study employs a use case and DL queries for model validation. The study's innovation is to present the ontology implementation for best-practice medicine and demonstrate how it can be applied to a real-world setup with semantic information. The ACLRO simultaneously emphasizes knowledge representation in health-intervention, statistics, research design, and external research evidence, while constructing the classes of data-driven and patient-focus processes that allow knowledge sharing explicit of technology. Additionally, the model synthesizes multiple related ontologies, which leads to the successful application of best-practice medicine

Towards an epistemology of medical imaging

Tese de doutoramento (co-tutela), História e Filosofia das Ciências (Filosofia), Faculdade de Ciências da Universidade de Lisboa, Università degli Studi di Milano, 201

BIOMEDICAL ONTOLOGIES: EXAMINING ASPECTS OF INTEGRATION ACROSS BREAST CANCER KNOWLEDGE DOMAINS

The key ideas developed in this thesis lie at the intersection of epistemology, philosophy of molecular biology, medicine, and computer science. I examine how the epistemic and pragmatic needs of agents distributed across particular scientific disciplines influence the domain-specific reasoning, classification, and representation of breast cancer. The motivation to undertake an interdisciplinary approach, while addressing the problems of knowledge integration, originates in the peculiarity of the integrative endeavour of sciences that is fostered by information technologies and ontology engineering methods. I analyse what knowledge integration in this new field means and how it is possible to integrate diverse knowledge domains, such as clinical and molecular. I examine the extent and character of the integration achieved through the application of biomedical ontologies. While particular disciplines target certain aspects of breast cancer-related phenomena, biomedical ontologies target biomedical knowledge about phenomena that is often captured within diverse classificatory systems and domain-specific representations. In order to integrate dispersed pieces of knowledge, which is distributed across assorted research domains and knowledgebases, ontology engineers need to deal with the heterogeneity of terminological, conceptual, and practical aims that are not always shared among the domains. Accordingly, I analyse the specificities, similarities, and diversities across the clinical and biomedical domain conceptualisations and classifications of breast cancer. Instead of favouring a unifying approach to knowledge integration, my analysis shows that heterogeneous classifications and representations originate from different epistemic and pragmatic needs, each of which brings a fruitful insight into the problem. Thus, while embracing a pluralistic view on the ontologies that are capturing various aspects of knowledge, I argue that the resulting integration should be understood in terms of a coordinated social effort to bring knowledge together as needed and when needed, rather than in terms of a unity that represents domain-specific knowledge in a uniform manner. Furthermore, I characterise biomedical ontologies and knowledgebases as a novel socio-technological medium that allows representational interoperability across the domains. As an example, which also marks my own contribution to the collaborative efforts, I present an ontology for HER2+ breast cancer phenotypes that integrates clinical and molecular knowledge in an explicit way. Through this and a number of other examples, I specify how biomedical ontologies support a mutual enrichment of knowledge across the domains, thereby enabling the application of molecular knowledge into the clinics