Biomedical Ontologies Research Articles

The BSSO Foundry: A community of practice for ontologies in the behavioural and social sciences

There has been a rapid expansion in the quantity and complexity of data, information and knowledge created in the behavioural and social sciences, yet the field is not advancing understanding, practice or policy to the extent that the insights warrant. One challenge is that research often progresses in disciplinary silos and is reported using inconsistent and ambiguous terminology. This makes it difficult to integrate and aggregate findings to produce cumulative bodies of knowledge that can be translated to applied settings. Ontologies can address these challenges; their development and use have the potential to accelerate the behavioural and social sciences. Ontologies can facilitate communication through precise specification and dissemination of terms, and enable efficient data integration, sharing, comparison and analysis. The widespread use of ontologies in the biomedical and biological sciences has led to multiple successes. It is time now for the behavioural and social sciences to follow that lead. In recent years, a number of ontologies have been developed within the behavioural and social sciences; however, efforts have tended to be isolated, with limited resources to support developers and those who work (or would like to work) with and use ontologies. There is a need for coordination and exchange to reduce duplication of work and leverage the value of a community to support the interoperability of these ontologies (linking of entities across domains and datasets). We have therefore initiated the Behavioural and Social Sciences Ontology (BSSO) Foundry, a community of practice and online repository for the development, adoption and use of ontologies in the behavioural and social sciences. The BSSO Foundry aligns with and builds upon the model provided by the Open Biological and Biomedical Ontology Foundry. We describe this new initiative and how to join and contribute to the community of interoperable ontologies for the behavioural and social sciences.

Discovery of optimal cell type classification marker genes from single cell RNA sequencing data

BackgroundThe use of single cell/nucleus RNA sequencing (scRNA-seq) technologies that quantitively describe cell transcriptional phenotypes is revolutionizing our understanding of cell biology, leading to new insights in cell type identification, disease mechanisms, and drug development. The tremendous growth in scRNA-seq data has posed new challenges in efficiently characterizing data-driven cell types and identifying quantifiable marker genes for cell type classification. The use of machine learning and explainable artificial intelligence has emerged as an effective approach to study large-scale scRNA-seq data.MethodsNS-Forest is a random forest machine learning-based algorithm that aims to provide a scalable data-driven solution to identify minimum combinations of necessary and sufficient marker genes that capture cell type identity with maximum classification accuracy. Here, we describe the latest version, NS-Forest version 4.0 and its companion Python package (https://github.com/JCVenterInstitute/NSForest), with several enhancements to select marker gene combinations that exhibit highly selective expression patterns among closely related cell types and more efficiently perform marker gene selection for large-scale scRNA-seq data atlases with millions of cells.ResultsBy modularizing the final decision tree step, NS-Forest v4.0 can be used to compare the performance of user-defined marker genes with the NS-Forest computationally-derived marker genes based on the decision tree classifiers. To quantify how well the identified markers exhibit the desired pattern of being exclusively expressed at high levels within their target cell types, we introduce the On-Target Fraction metric that ranges from 0 to 1, with a metric of 1 assigned to markers that are only expressed within their target cell types and not in cells of any other cell types. NS-Forest v4.0 outperforms previous versions in simulation studies and on its ability to identify markers with higher On-Target Fraction values for closely related cell types in real data, and outperforms other marker gene selection approaches for cell type classification with significantly higher F-beta scores when applied to datasets from three human organs—brain, kidney, and lung.DiscussionFinally, we discuss potential use cases of the NS-Forest marker genes, including for designing spatial transcriptomics gene panels and semantic representation of cell types in biomedical ontologies, for the broad user community.

MeSH2Matrix: combining MeSH keywords and machine learning for biomedical relation classification based on PubMed

Biomedical relation classification has been significantly improved by the application of advanced machine learning techniques on the raw texts of scholarly publications. Despite this improvement, the reliance on large chunks of raw text makes these algorithms suffer in terms of generalization, precision, and reliability. The use of the distinctive characteristics of bibliographic metadata can prove effective in achieving better performance for this challenging task. In this research paper, we introduce an approach for biomedical relation classification using the qualifiers of co-occurring Medical Subject Headings (MeSH). First of all, we introduce MeSH2Matrix, our dataset consisting of 46,469 biomedical relations curated from PubMed publications using our approach. Our dataset includes a matrix that maps associations between the qualifiers of subject MeSH keywords and those of object MeSH keywords. It also specifies the corresponding Wikidata relation type and the superclass of semantic relations for each relation. Using MeSH2Matrix, we build and train three machine learning models (Support Vector Machine [SVM], a dense model [D-Model], and a convolutional neural network [C-Net]) to evaluate the efficiency of our approach for biomedical relation classification. Our best model achieves an accuracy of 70.78% for 195 classes and 83.09% for five superclasses. Finally, we provide confusion matrix and extensive feature analyses to better examine the relationship between the MeSH qualifiers and the biomedical relations being classified. Our results will hopefully shed light on developing better algorithms for biomedical ontology classification based on the MeSH keywords of PubMed publications. For reproducibility purposes, MeSH2Matrix, as well as all our source codes, are made publicly accessible at https://github.com/SisonkeBiotik-Africa/MeSH2Matrix.

A framework for integrating biomedical knowledge in Wikidata with open biological and biomedical ontologies and MeSH keywords

This study presents a comprehensive framework to enhance Wikidata as an open and collaborative knowledge graph by integrating Open Biological and Biomedical Ontologies (OBO) and Medical Subject Headings (MeSH) keywords from PubMed publications. The primary data sources include OBO ontologies and MeSH keywords, which were collected and classified using SPARQL queries for RDF knowledge graphs. The semantic alignment between OBO ontologies and Wikidata was evaluated, revealing significant gaps and distorted representations that necessitate both automated and manual interventions for improvement. We employed pointwise mutual information to extract biomedical relations among the 5000 most common MeSH keywords in PubMed, achieving an accuracy of 89.40 % for superclass-based classification and 75.32 % for relation type-based classification. Additionally, Integrated Gradients were utilized to refine the classification by removing irrelevant MeSH qualifiers, enhancing overall efficiency. The framework also explored the use of MeSH keywords to identify PubMed reviews supporting unsupported Wikidata relations, finding that 45.8 % of these relations were not present in PubMed, indicating potential inconsistencies in Wikidata. The contributions of this study include improved methodologies for enriching Wikidata with biomedical information, validated semantic alignments, and efficient classification processes. This work enhances the interoperability and multilingual capabilities of biomedical ontologies and demonstrates the critical role of MeSH keywords in verifying semantic relations, thereby contributing to the robustness and accuracy of collaborative biomedical knowledge graphs.

Improving dictionary-based named entity recognition with deep learning.

Dictionary-based named entity recognition (NER) allows terms to be detected in a corpus and normalized to biomedical databases and ontologies. However, adaptation to different entity types requires new high-quality dictionaries and associated lists of blocked names for each type. The latter are so far created by identifying cases that cause many false positives through manual inspection of individual names, a process that scales poorly. In this work, we aim to improve block list s by automatically identifying names to block, based on the context in which they appear. By comparing results of three well-established biomedical NER methods, we generated a dataset of over 12.5 million text spans where the methods agree on the boundaries and type of entity tagged. These were used to generate positive and negative examples of contexts for four entity types (genes, diseases, species, and chemicals), which were used to train a Transformer-based model (BioBERT) to perform entity type classification. Application of the best model (F1-score = 96.7%) allowed us to generate a list of problematic names that should be blocked. Introducing this into our system doubled the size of the previous list of corpus-wide blocked names. In addition, we generated a document-specific list that allows ambiguous names to be blocked in specific documents. These changes boosted text mining precision by ∼5.5% on average, and over 8.5% for chemical and 7.5% for gene names, positively affecting several biological databases utilizing this NER system, like the STRING database, with only a minor drop in recall (0.6%). All resources are available through Zenodo https://doi.org/10.5281/zenodo.11243139 and GitHub https://doi.org/10.5281/zenodo.10289360.

GallOnt: An ontology for plant gall phenotypes.

Galls are novel plant structures that develop in response to select biotic stressors. These structures, extended phenotypes of the inducer, usually serve to protect and feed the inducer or its progeny. This life history strategy has evolved dozens of times, and tens of thousands of species - including many bacteria, fungi, nematodes, mites and insects - are capable of manipulating plants in this way. The variation in gall phenotypes is extraordinary across species but usually predictable for each species of inducer. We introduce here a new ontology, GallOnt, that facilitates consistent descriptions and the semantic representation of and reasoning over plant gall phenotype data. GallOnt was largely developed from ontologies in the Open Biological and Biomedical Ontology (OBO) Foundry and stands to connect plant gall phenotypes to knowledge derived from model plant systems, including genotype-phenotype and agricultural research. We also introduce the idea of a new gall data standard - Minimum Information for the Description of Galls (MIDG version 0.1) - as a starting point for discussions regarding cecidology best practices.

Merging Biomedical Ontologies with BioSTransformers.

Ontologies play a key role in representing and structuring domain knowledge. In the biomedical domain, the need for this type of representation is crucial for structuring, coding, and retrieving data. However, available ontologies do not encompass all the relevant concepts and relationships. In this paper, we propose the framework SiMHOMer (Siamese Models for Health Ontologies Merging) to semantically merge and integrate the most relevant ontologies in the healthcare domain, with a first focus on diseases, symptoms, drugs, and adverse events. We propose to rely on the siamese neural models we developed and trained on biomedical data, BioSTransformers, to identify new relevant relations between concepts and to create new semantic relations, the objective being to build a new merging ontology that could be used in applications. To validate the proposed approach and the new relations, we relied on the UMLS Metathesaurus and the Semantic Network. Our first results show promising improvements for future research.

Concretizing plan specifications as realizables within the OBO foundry

BackgroundWithin the Open Biological and Biomedical Ontology (OBO) Foundry, many ontologies represent the execution of a plan specification as a process in which a realizable entity that concretizes the plan specification, a “realizable concretization” (RC), is realized. This representation, which we call the “RC-account”, provides a straightforward way to relate a plan specification to the entity that bears the realizable concretization and the process that realizes the realizable concretization. However, the adequacy of the RC-account has not been evaluated in the scientific literature. In this manuscript, we provide this evaluation and, thereby, give ontology developers sound reasons to use or not use the RC-account pattern.ResultsAnalysis of the RC-account reveals that it is not adequate for representing failed plans. If the realizable concretization is flawed in some way, it is unclear what (if any) relation holds between the realizable entity and the plan specification. If the execution (i.e., realization) of the realizable concretization fails to carry out the actions given in the plan specification, it is unclear under the RC-account how to directly relate the failed execution to the entity carrying out the instructions given in the plan specification. These issues are exacerbated in the presence of changing plans.ConclusionsWe propose two solutions for representing failed plans. The first uses the Common Core Ontologies ‘prescribed by’ relation to connect a plan specification to the entity or process that utilizes the plan specification as a guide. The second, more complex, solution incorporates the process of creating a plan (in the sense of an intention to execute a plan specification) into the representation of executing plan specifications. We hypothesize that the first solution (i.e., use of ‘prescribed by’) is adequate for most situations. However, more research is needed to test this hypothesis as well as explore the other solutions presented in this manuscript.

Multimodal representations of biomedical knowledge from limited training whole slide images and reports using deep learning

The increasing availability of biomedical data creates valuable resources for developing new deep learning algorithms to support experts, especially in domains where collecting large volumes of annotated data is not trivial. Biomedical data include several modalities containing complementary information, such as medical images and reports: images are often large and encode low-level information, while reports include a summarized high-level description of the findings identified within data and often only concerning a small part of the image. However, only a few methods allow to effectively link the visual content of images with the textual content of reports, preventing medical specialists from properly benefitting from the recent opportunities offered by deep learning models. This paper introduces a multimodal architecture creating a robust biomedical data representation encoding fine-grained text representations within image embeddings. The architecture aims to tackle data scarcity (combining supervised and self-supervised learning) and to create multimodal biomedical ontologies. The architecture is trained on over 6,000 colon whole slide Images (WSI), paired with the corresponding report, collected from two digital pathology workflows. The evaluation of the multimodal architecture involves three tasks: WSI classification (on data from pathology workflow and from public repositories), multimodal data retrieval, and linking between textual and visual concepts. Noticeably, the latter two tasks are available by architectural design without further training, showing that the multimodal architecture that can be adopted as a backbone to solve peculiar tasks. The multimodal data representation outperforms the unimodal one on the classification of colon WSIs and allows to halve the data needed to reach accurate performance, reducing the computational power required and thus the carbon footprint. The combination of images and reports exploiting self-supervised algorithms allows to mine databases without needing new annotations provided by experts, extracting new information. In particular, the multimodal visual ontology, linking semantic concepts to images, may pave the way to advancements in medicine and biomedical analysis domains, not limited to histopathology.

Ontologies related to livestock for the Global Burden of Animal Diseases programme: a review.

The Global Burden of Animal Diseases (GBADs) programme aims to assess the impact of animal health on agricultural animals, livestock production systems and associated communities worldwide. As part of the objectives of GBADs'Animal Health Ontology theme, the programme reviewed conceptual frameworks, ontologies and classification systems in biomedical science. The focus was on data requirements in animal health and the connections between animal health and human and environmental health. In May 2023, the team conducted searches of recognised repositories of biomedical ontologies, including BioPortal, Open Biological and Biomedical Ontology Foundry, and Ontology Lookup Service, to identify animal and livestock ontologies and those containing relevant concepts. Sixteen ontologies were found, covering topics such as surveillance, anatomy and genetics. Notable examples include the Animal Trait Ontology for Livestock, the Animal Health Surveillance Ontology, the National Center for Biotechnology Information Taxonomy and the Uberon Multi-Species Anatomy Ontology. However, some ontologies lacked class definitions for a significant portion of their classes. The review highlights the need for domain evidence to support proposed models, critical appraisal of external ontologies before reuse, and external expert reviews along with statistical tests of agreements. The findings from this review informed the structural framework, concepts and rationales of the animal health ontology for GBADs. This animal health ontology aims to increase the interoperability and transparency of GBADs data, thereby enabling estimates of the impacts of animal diseases on agriculture, livestock production systems and associated communities globally.

An ontology-based tool for modeling and documenting events in neurosurgery

BackgroundIntraoperative neurophysiological monitoring (IOM) plays a pivotal role in enhancing patient safety during neurosurgical procedures. This vital technique involves the continuous measurement of evoked potentials to provide early warnings and ensure the preservation of critical neural structures. One of the primary challenges has been the effective documentation of IOM events with semantically enriched characterizations. This study aimed to address this challenge by developing an ontology-based tool.MethodsWe structured the development of the IOM Documentation Ontology (IOMDO) and the associated tool into three distinct phases. The initial phase focused on the ontology’s creation, drawing from the OBO (Open Biological and Biomedical Ontology) principles. The subsequent phase involved agile software development, a flexible approach to encapsulate the diverse requirements and swiftly produce a prototype. The last phase entailed practical evaluation within real-world documentation settings. This crucial stage enabled us to gather firsthand insights, assessing the tool’s functionality and efficacy. The observations made during this phase formed the basis for essential adjustments to ensure the tool’s productive utilization.ResultsThe core entities of the ontology revolve around central aspects of IOM, including measurements characterized by timestamp, type, values, and location. Concepts and terms of several ontologies were integrated into IOMDO, e.g., the Foundation Model of Anatomy (FMA), the Human Phenotype Ontology (HPO) and the ontology for surgical process models (OntoSPM) related to general surgical terms. The software tool developed for extending the ontology and the associated knowledge base was built with JavaFX for the user-friendly frontend and Apache Jena for the robust backend. The tool’s evaluation involved test users who unanimously found the interface accessible and usable, even for those without extensive technical expertise.ConclusionsThrough the establishment of a structured and standardized framework for characterizing IOM events, our ontology-based tool holds the potential to enhance the quality of documentation, benefiting patient care by improving the foundation for informed decision-making. Furthermore, researchers can leverage the semantically enriched data to identify trends, patterns, and areas for surgical practice enhancement. To optimize documentation through ontology-based approaches, it’s crucial to address potential modeling issues that are associated with the Ontology of Adverse Events.

MRIO: the Magnetic Resonance Imaging Acquisition and Analysis Ontology.

Magnetic resonance imaging of the brain is a useful tool in both the clinic and research settings, aiding in the diagnosis and treatments of neurological disease and expanding our knowledge of the brain. However, there are many challenges inherent in managing and analyzing MRI data, due in large part to the heterogeneity of data acquisition. To address this, we have developed MRIO, the Magnetic Resonance Imaging Acquisition and Analysis Ontology. MRIO provides well-reasoned classes and logical axioms for the acquisition of several MRI acquisition types and well-known, peer-reviewed analysis software, facilitating the use of MRI data. These classes provide a common language for the neuroimaging research process and help standardize the organization and analysis of MRI data for reproducible datasets. We also provide queries for automated assignment of analyses for given MRI types. MRIO aids researchers in managing neuroimaging studies by helping organize and annotate MRI data and integrating with existing standards such as Digital Imaging and Communications in Medicine and the Brain Imaging Data Structure, enhancing reproducibility and interoperability. MRIO was constructed according to Open Biomedical Ontologies Foundry principles and has contributed several classes to the Ontology for Biomedical Investigations to help bridge neuroimaging data to other domains. MRIO addresses the need for a "common language" for MRI that can help manage the neuroimaging research, by enabling researchers to identify appropriate analyses for sets of scans and facilitating data organization and reporting.

Developing a computational representation of human physical activity and exercise using open ontology-based approach: a Tai Chi use case.

Many studies have examined the impact of exercise and other physical activities in influencing the health outcomes of individuals. These physical activities entail an intricate sequence and series of physical anatomy, physiological movement, movement of the anatomy, etc. To better understand how these components interact with one another and their downstream impact on health outcomes, there needs to be an information model that conceptualizes all entities involved. In this study, we introduced our early development of an ontology model to computationally describe human physical activities and the various entities that compose each activity. We developed an open-sourced biomedical ontology called the Kinetic Human Movement Ontology that reused OBO Foundry terminologies and encoded in OWL2. We applied this ontology in modeling and linking a specific Tai Chi movement. The contribution of this work could enable modeling of information relating to human physical activity, like exercise, and lead towards information standardization of human movement for analysis. Future work will include expanding our ontology to include more expressive information and completely modeling entire sets of movement from human physical activity.

Efficient large-scale biomedical ontology matching with anchor-based biomedical ontology partitioning and compact geometric semantic genetic programming

Biomedical ontology offers a structured framework to model the biomedical knowledge in a machine-readable format. However, the heterogeneity inherent in biomedical ontologies hinders their communication. Biomedical Ontology Matching (BOM) can address this issue by identifying equivalent concepts in biomedical ontologies. Recently, Evolutionary Algorithms (EAs) based matching techniques have exhibited their effectiveness in finding high-quality matching results. However, due to the vast number of entities, and intricate relationships between entities, it is difficult for traditional EAs to efficiently solve the BOM problem. To tackle this challenge, this paper proposes an efficient BOM method to automatically match large-scale biomedical ontologies. First, a novel anchor-based biomedical ontology partitioning method is developed to transform the large-scale BOM problem into several small-scale matching tasks, reducing the search space of the matching phase. Second, a new Compact Geometric Semantic Genetic Programming (CGSGP) is proposed to efficiently construct high-level Similarity Feature for BOM, which can significantly reduce the computational complexity. Lastly, a new fitness function composed of the approximated evaluation metric and the Dominance Improvement Ratio (DIR) is introduced, which can overcome the solution’s bias improvement and enable the simultaneous matching of multiple pairs of sub-ontologies without requiring the standard alignment. The experiment verifies our approach’s performance on the Ontology Alignment Evaluation Initiative (OAEI)’s Anatomy, Large Biomed and Disease and Phenotype datasets. The experimental results show that our method can efficiently determine high-quality BOM results across different test cases, whose performance significantly outperforms the state-of-the-art BOM techniques.

CoRTEx: contrastive learning for representing terms via explanations with applications on constructing biomedical knowledge graphs.

Biomedical Knowledge Graphs play a pivotal role in various biomedical research domains. Concurrently, term clustering emerges as a crucial step in constructing these knowledge graphs, aiming to identify synonymous terms. Due to a lack of knowledge, previous contrastive learning models trained with Unified Medical Language System (UMLS) synonyms struggle at clustering difficult terms and do not generalize well beyond UMLS terms. In this work, we leverage the world knowledge from large language models (LLMs) and propose Contrastive Learning for Representing Terms via Explanations (CoRTEx) to enhance term representation and significantly improves term clustering. The model training involves generating explanations for a cleaned subset of UMLS terms using ChatGPT. We employ contrastive learning, considering term and explanation embeddings simultaneously, and progressively introduce hard negative samples. Additionally, a ChatGPT-assisted BIRCH algorithm is designed for efficient clustering of a new ontology. We established a clustering test set and a hard negative test set, where our model consistently achieves the highest F1 score. With CoRTEx embeddings and the modified BIRCH algorithm, we grouped 35 580 932 terms from the Biomedical Informatics Ontology System (BIOS) into 22 104 559 clusters with O(N) queries to ChatGPT. Case studies highlight the model's efficacy in handling challenging samples, aided by information from explanations. By aligning terms to their explanations, CoRTEx demonstrates superior accuracy over benchmark models and robustness beyond its training set, and it is suitable for clustering terms for large-scale biomedical ontologies.

Bridging the Knowledge Gap: Improving BERT models for answering MCQs by using Ontology-generated synthetic MCQA Dataset

BERT-based models possess impressive language understanding capabilities but often lack domain-specific knowledge, limiting their performance on specialised tasks such as medical multiple-choice question answering (MCQA). In this paper, we study how biomedical ontologies, rich repositories of medical knowledge, can be harnessed to enhance BERT-based models for medical MCQA task. Our contributions include OntoMCQA-Gen, a system which leverages different biomedical ontologies to construct BioOntoMCQA, a large synthetic MCQA dataset. OntoMCQA-Gen exploits the subclass-class relationships, definitions of concepts, and also synonym relationships from the ontologies to create this dataset of MCQs automatically. We then use this synthetic dataset to fine-tune various BERT-based models to answer medical MCQs. We evaluated these fine-tuned BERT models on the challenging MedMCQA and MedQA datasets of questions from admission examinations for medical degrees in India and USA, respectively. Our evaluation study on these datasets shows that fine-tuning the BERT-based models on BioOntoMCQA results in significantly improved accuracy scores. BioBERT and PubMedBERT, pretrained on the large medical corpus, have also shown significant improvements with our technique of fine-tuning ontology-generated synthetic data. This finding highlights the effectiveness of incorporating biomedi- cal ontologies to enhance the BERT-based model in the medical domain. Moreover, our results underscore the importance of using ontology-generated data along with model adaptation for specialised domains, contributing to a novel advancement in natural language processing.

Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests

ObjectiveFemale reproductive disorders (FRDs) are common health conditions that may present with significant symptoms. Diet and environment are potential areas for FRD interventions. We utilized a knowledge graph (KG) method to predict factors associated with common FRDs (for example, endometriosis, ovarian cyst, and uterine fibroids). Materials and MethodsWe harmonized survey data from the Personalized Environment and Genes Study (PEGS) on internal and external environmental exposures and health conditions with biomedical ontology content. We merged the harmonized data and ontologies with supplemental nutrient and agricultural chemical data to create a KG. We analyzed the KG by embedding edges and applying a random forest for edge prediction to identify variables potentially associated with FRDs. We also conducted logistic regression analysis for comparison. ResultsAcross 9765 PEGS respondents, the KG analysis resulted in 8535 significant or suggestive predicted links between FRDs and chemicals, phenotypes, and diseases. Amongst these links, 32 were exact matches when compared with the logistic regression results, including comorbidities, medications, foods, and occupational exposures. DiscussionMechanistic underpinnings of predicted links documented in the literature may support some of our findings. Our KG methods are useful for predicting possible associations in large, survey-based datasets with added information on directionality and magnitude of effect from logistic regression. These results should not be construed as causal but can support hypothesis generation. ConclusionThis investigation enabled the generation of hypotheses on a variety of potential links between FRDs and exposures. Future investigations should prospectively evaluate the variables hypothesized to impact FRDs.

Minimal Macro-Based Rewritings of Formal Languages: Theory and Applications in Ontology Engineering (and Beyond)

In this paper, we introduce the problem of rewriting finite formal languages using syntactic macros such that the rewriting is minimal in size. We present polynomial-time algorithms to solve variants of this problem and show their correctness. To demonstrate the practical relevance of the proposed problems and the feasibility and effectiveness of our algorithms in practice, we apply these to biomedical ontologies authored in OWL. We find that such rewritings can significantly reduce the size of ontologies by capturing repeated expressions with macros. This approach not only offers valuable assistance in enhancing ontology quality and comprehension but can also be seen as a general methodology for evaluating features of rewriting systems (including syntactic macros, templates, or other forms of rewriting rules), which can be analyzed in terms of their influence on computational problems.

“Different names for the same thing”? Novelty, expectations, and performative nominalism in personalized and precision medicine

This paper explores the complementary and contrasting uses of the terms ‘personalized medicine’ and ‘precision medicine’ in denotations of a biomedical approach attentive to individual specificities that harnesses genomics and other data-intensive profiling technologies. Drawing on qualitative interviews conducted with biomedical experts in the context of the Precision Medicine Initiative in the United States and the 100,000 Genomes project in the United Kingdom, we read definitional reflection and debate through the lens of the sociologies of expectations and novelty. We observed two key aspects in the shift from ‘personalized medicine’ to ‘precision medicine’ that has been especially prevalent in the United States. First, the term ‘precision medicine’ enables its proponents to rhetorically depart from the idea that this approach to medicine can be expected to deliver individually personalized treatments—an expectation that is seen as unrealistic by many. Second, it enables its proponents to assert that personalization, when understood as caring about the patient as an individual person, is not a new approach to medicine but rather something that many medical professionals have always aimed to do (eliding in the process other experiences of US healthcare as, for instance, alienating and discriminatory). We argue that the shift from ‘personalized’ to ‘precision’ medicine can be regarded as a manifestation of performative nominalism: an attribution of ‘newness’ that contributes to performing and propelling innovation, rather than solely reflecting it. In so doing, rhetorical demarcations between personalized and precision medicine emerge as performatively contributing to the production of different biomedical ontologies.

A Semantic Approach to Describe Social and Economic Characteristics That Impact Health Outcomes (Social Determinants of Health): Ontology Development Study.

Social determinants of health (SDoH) have been described by the World Health Organization as the conditions in which individuals are born, live, work, and age. These conditions can be grouped into 3 interrelated levels known as macrolevel (societal), mesolevel (community), and microlevel (individual) determinants. The scope of SDoH expands beyond the biomedical level, and there remains a need to connect other areas such as economics, public policy, and social factors. Providing a computable artifact that can link health data to concepts involving the different levels of determinants may improve our understanding of the impact SDoH have on human populations. Modeling SDoH may help to reduce existing gaps in the literature through explicit links between the determinants and biological factors. This in turn can allow researchers and clinicians to make better sense of data and discover new knowledge through the use of semantic links. An experimental ontology was developed to represent knowledge of the social and economic characteristics of SDoH. Information from 27 literature sources was analyzed to gather concepts and encoded using Web Ontology Language, version 2 (OWL2) and Protégé. Four evaluators independently reviewed the ontology axioms using natural language translation. The analyses from the evaluations and selected terminologies from the Basic Formal Ontology were used to create a revised ontology with a broad spectrum of knowledge concepts ranging from the macrolevel to the microlevel determinants. The literature search identified several topics of discussion for each determinant level. Publications for the macrolevel determinants centered around health policy, income inequality, welfare, and the environment. Articles relating to the mesolevel determinants discussed work, work conditions, psychosocial factors, socioeconomic position, outcomes, food, poverty, housing, and crime. Finally, sources found for the microlevel determinants examined gender, ethnicity, race, and behavior. Concepts were gathered from the literature and used to produce an ontology consisting of 383 classes, 109 object properties, and 748 logical axioms. A reasoning test revealed no inconsistent axioms. This ontology models heterogeneous social and economic concepts to represent aspects of SDoH. The scope of SDoH is expansive, and although the ontology is broad, it is still in its early stages. To our current understanding, this ontology represents the first attempt to concentrate on knowledge concepts that are currently not covered by existing ontologies. Future direction will include further expanding the ontology to link with other biomedical ontologies, including alignment for granular semantics.