Knowledge Author: Facilitating user-driven, Domain content development to support clinical information extraction

Background: Clinical Natural Language Processing (NLP) systems require a semantic schema comprised of domain-specific concepts, their lexical variants, and associated modifiers to accurately extract information from clinical texts. An NLP system leverages this schema to structure concepts and extract meaning from the free texts. In the clinical domain, creating a semantic schema typically requires input from both a domain expert, such as a clinician, and an NLP expert who will represent clinical concepts created from the clinician's domain expertise into a computable format usable by an NLP system. The goal of this work is to develop a web-based tool, Knowledge Author, that bridges the gap between the clinical domain expert and the NLP system development by facilitating the development of domain content represented in a semantic schema for extracting information from clinical free-text. Results: Knowledge Author is a web-based, recommendation system that supports users in developing domain content necessary for clinical NLP applications. Knowledge Author's schematic model leverages a set of semantic types derived from the Secondary Use Clinical Element Models and the Common Type System to allow the user to quickly create and modify domain-related concepts. Features such as collaborative development and providing domain content suggestions through the mapping of concepts to the Unified Medical Language System Metathesaurus database further supports the domain content creation process. Two proof of concept studies were performed to evaluate the system's performance. The first study evaluated Knowledge Author's flexibility to create a broad range of concepts. A dataset of 115 concepts was created of which 87 (76%) were able to be created using Knowledge Author. The second study evaluated the effectiveness of Knowledge Author's output in an NLP system by extracting concepts and associated modifiers representing a clinical element, carotid stenosis, from 34 clinical free-text radiology reports using Knowledge Author and an NLP system, pyConText. Knowledge Author's domain content produced high recall for concepts (targeted findings: 86%) and varied recall for modifiers (certainty: 91% sidedness: 80%, neurovascular anatomy: 46%). Conclusion: Knowledge Author can support clinical domain content development for information extraction by supporting semantic schema creation by domain experts

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

Archetype development and governance methodologies for the electronic health record

[ES] La interoperabilidad semántica de la información sanitaria es un requisito imprescindible para la sostenibilidad de la atención sanitaria, y es fundamental para afrontar los nuevos retos sanitarios de un mundo globalizado. Esta tesis aporta nuevas metodologías para abordar algunos de los aspectos fundamentales de la interoperabilidad semántica, específicamente aquellos relacionados con la definición y gobernanza de modelos de información clínica expresados en forma de arquetipo. Las aportaciones de la tesis son: - Estudio de las metodologías de modelado existentes de componentes de interoperabilidad semántica que influirán en la definición de una metodología de modelado de arquetipos. - Análisis comparativo de los sistemas e iniciativas existentes para la gobernanza de modelos de información clínica. - Una propuesta de Metodología de Modelado de Arquetipos unificada que formalice las fases de desarrollo del arquetipo, los participantes requeridos y las buenas prácticas a seguir. - Identificación y definición de principios y características de gobernanza de arquetipos. - Diseño y desarrollo de herramientas que brinden soporte al modelado y la gobernanza de arquetipos. Las aportaciones de esta tesis se han puesto en práctica en múltiples proyectos y experiencias de desarrollo. Estas experiencias varían desde un proyecto local dentro de una sola organización que requirió la reutilización de datos clínicos basados en principios de interoperabilidad semántica, hasta el desarrollo de proyectos de historia clínica electrónica de alcance nacional.[CA] La interoperabilitat semàntica de la informació sanitària és un requisit imprescindible per a la sostenibilitat de l'atenció sanitària, i és fonamental per a afrontar els nous reptes sanitaris d'un món globalitzat. Aquesta tesi aporta noves metodologies per a abordar alguns dels aspectes fonamentals de la interoperabilitat semàntica, específicament aquells relacionats amb la definició i govern de models d'informació clínica expressats en forma d'arquetip. Les aportacions de la tesi són: - Estudi de les metodologies de modelatge existents de components d'interoperabilitat semàntica que influiran en la definició d'una metodologia de modelatge d'arquetips. - Anàlisi comparativa dels sistemes i iniciatives existents per al govern de models d'informació clínica. - Una proposta de Metodologia de Modelatge d'Arquetips unificada que formalitza les fases de desenvolupament de l'arquetip, els participants requerits i les bones pràctiques a seguir. - Identificació i definició de principis i característiques de govern d'arquetips. - Disseny i desenvolupament d'eines que brinden suport al modelatge i al govern d'arquetips. Les aportacions d'aquesta tesi s'han posat en pràctica en múltiples projectes i experiències de desenvolupament. Aquestes experiències varien des d'un projecte local dins d'una sola organització que va requerir la reutilització de dades clíniques basades en principis d'interoperabilitat semàntica, fins al desenvolupament de projectes d'història clínica electrònica d'abast nacional.[EN] Semantic interoperability of health information is an essential requirement for the sustainability of healthcare, and it is essential to face the new health challenges of a globalized world. This thesis provides new methodologies to tackle some of the fundamental aspects of semantic interoperability, specifically those aspects related to the definition and governance of clinical information models expressed in the form of archetypes. The contributions of the thesis are: - Study of existing modeling methodologies of semantic interoperability components that will influence in the definition of an archetype modeling methodology. - Comparative analysis of existing clinical information model governance systems and initiatives. - A proposal of a unified Archetype Modeling Methodology that formalizes the phases of archetype development, the required participants, and the good practices to be followed. - Identification and definition of archetype governance principles and characteristics. - Design and development of tools that provide support to archetype modeling and governance. The contributions of this thesis have been put into practice in multiple projects and development experiences. These experiences vary from a local project inside a single organization that required a reuse on clinical data based on semantic interoperability principles, to the development of national electronic health record projects.This thesis was partially funded by the Ministerio de Economía y Competitividad, ayudas para contratos para la formación de doctores en empresas “Doctorados Industriales”, grant DI-14-06564 and by the Agencia Valenciana de la Innovación, ayudas del Programa de Promoción del Talento – Doctorados empresariales (INNODOCTO), grant INNTA3/2020/12.Moner Cano, D. (2021). Archetype development and governance methodologies for the electronic health record [Tesis doctoral]. Universitat Politècnica de València. https://doi.org/10.4995/Thesis/10251/16491

Archetype Modeling Methodology

[EN] Clinical Information Models (CIMs) expressed as archetypes play an essential role in the design and development of current Electronic Health Record (EHR) information structures. Although there exist many experiences about using archetypes in the literature, a comprehensive and formal methodology for archetype modeling does not exist. Having a modeling methodology is essential to develop quality archetypes, in order to guide the development of EHR systems and to allow the semantic interoperability of health data. In this work, an archetype modeling methodology is proposed. This paper describes its phases, the inputs and outputs of each phase, and the involved participants and tools. It also includes the description of the possible strategies to organize the modeling process. The proposed methodology is inspired by existing best practices of CIMs, software and ontology development. The methodology has been applied and evaluated in regional and national EHR projects. The application of the methodology provided useful feedback and improvements, and confirmed its advantages. The conclusion of this work is that having a formal methodology for archetype development facilitates the definition and adoption of interoperable archetypes, improves their quality, and facilitates their reuse among different information systems and EHR projects. Moreover, the proposed methodology can be also a reference for CIMs development using any other formalism.This work was partially funded by grant DI-14-06564 (Doctorados Industriales) of the Ministerio de Economia y Competitividad of Spain. The authors would also thank the participants of all R&D projects that have served to evaluate and improve the presented methodology.Moner Cano, D.; Maldonado Segura, JA.; Robles Viejo, M. (2018). Archetype Modeling Methodology. Journal of Biomedical Informatics. 79:71-81. https://doi.org/10.1016/j.jbi.2018.02.003S71817

LeafAI: query generator for clinical cohort discovery rivaling a human programmer

Objective: Identifying study-eligible patients within clinical databases is a critical step in clinical research. However, accurate query design typically requires extensive technical and biomedical expertise. We sought to create a system capable of generating data model-agnostic queries while also providing novel logical reasoning capabilities for complex clinical trial eligibility criteria. Materials and Methods: The task of query creation from eligibility criteria requires solving several text-processing problems, including named entity recognition and relation extraction, sequence-to-sequence transformation, normalization, and reasoning. We incorporated hybrid deep learning and rule-based modules for these, as well as a knowledge base of the Unified Medical Language System (UMLS) and linked ontologies. To enable data-model agnostic query creation, we introduce a novel method for tagging database schema elements using UMLS concepts. To evaluate our system, called LeafAI, we compared the capability of LeafAI to a human database programmer to identify patients who had been enrolled in 8 clinical trials conducted at our institution. We measured performance by the number of actual enrolled patients matched by generated queries. Results: LeafAI matched a mean 43% of enrolled patients with 27,225 eligible across 8 clinical trials, compared to 27% matched and 14,587 eligible in queries by a human database programmer. The human programmer spent 26 total hours crafting queries compared to several minutes by LeafAI. Conclusions: Our work contributes a state-of-the-art data model-agnostic query generation system capable of conditional reasoning using a knowledge base. We demonstrate that LeafAI can rival a human programmer in finding patients eligible for clinical trials

Design of a goal ontology for medical decision-support

Thesis (S.M.)--Harvard-MIT Division of Health Sciences and Technology, 2005.Includes bibliographical references (leaves 34-36).Objectives: There are several ongoing efforts aimed at developing formal models of medical knowledge and reasoning to design decision-support systems. Until now, these efforts have focused primarily on representing content of clinical guidelines and their logical structure. The present study aims to develop a computable representation of health-care providers' intentions to be used as part of a framework for implementing clinical decision-support systems. Our goal is to create an ontology that supports retrieval of plans based on the intentions or goals of the clinician. Methods: We developed an ontological representation of medical goals, plans, clinical scenarios and other relevant entities in medical decision-making. We used the resulting ontology along with an external ontology inference engine to simulate selection of clinical recommendations based on goals. The ontology instances used in the simulation were modeled from two clinical guidelines. Testing the design: Thirty-two clinical recommendations were encoded in the experimental model. Nine test cases were created to verify the ability of the model to retrieve the plans. For all nine cases, plans were successfully retrieved. Conclusion: The ontological design we developed supported effective reasoning over a medical knowledge base.(cont.) The immediate extension of this approach to be fully developed in medical applications may be partially limited by the lack of available editing tools. Many efforts in this area are currently aiming to the development of needed technologies.by Davide Zacacagnini [i.e. Zaccagnini].S.M

Identifying and reducing inappropriate use of medications using Electronic Health Records

Inappropriate use of medications (IUM) is a global problem that can lead to unnecessary harm to the patients and unnecessary costs across the health care system. Identifying and reducing IUM has been a long-lasting challenge and currently, no systematic and automated solution exists to address it. IUM can be manually identified by experts using medication appropriateness criteria (MAC). In this research I first conducted a review of approaches used to identify IUM and reduce IUM. Next, I developed a conceptual model for representing the MAC, and then developed a tool and a workflow for translating the MAC into structured form. Because indications are an important component of the MAC, I conducted a critical appraisal of existing knowledge sources that can be used to that end, namely the medication-indication knowledge-bases. Finally, I demonstrated how these structured MAC can be used to identify patients who are potentially subject to IUM and evaluated the accuracy of this approach. This research identifies the knowledge gaps and technological challenges in identifying and reducing IUM and addresses some of these gaps through the creation of a representation for MAC, a repository of structured MAC, and a set of tools that can assist in evaluating the impact of interventions aimed to reduce IUM or assess its downstream effects. This research also discusses the limitations of existing methods for executing computable decision support rules and proposes solutions needed to enhance these methods so they can support implementation of the MAC

Automatic production and integration of knowledge to the support of the decision and planning activities in medical-clinical diagnosis, treatment and prognosis.

El concepto de procedimiento médico se refiere al conjunto de actividades seguidas por los profesionales de la salud para solucionar o mitigar el problema de salud que afecta a un paciente. La toma de decisiones dentro del procedimiento médico ha sido, por largo tiempo, uno de las áreas más interesantes de investigación en la informática médica y el contexto de investigación de esta tesis. La motivación para desarrollar este trabajo de investigación se basa en tres aspectos fundamentales: no hay modelos de conocimiento para todas las actividades médico-clínicas que puedan ser inducidas a partir de datos médicos, no hay soluciones de aprendizaje inductivo para todas las actividades de la asistencia médica y no hay un modelo integral que formalice el concepto de procedimiento médico. Por tanto, nuestro objetivo principal es desarrollar un modelo computable basado en conocimiento que integre todas las actividades de decisión y planificación para el diagnóstico, tratamiento y pronóstico médico-clínicos. Para alcanzar el objetivo principal, en primer lugar, explicamos el problema de investigación. En segundo lugar, describimos los antecedentes del problema de investigación desde los contextos médico e informático. En tercer lugar, explicamos el desarrollo de la propuesta de investigación, basada en cuatro contribuciones principales: un nuevo modelo, basado en datos y conocimiento, para la actividad de planificación en el diagnóstico y tratamiento médico-clínicos; una novedosa metodología de aprendizaje inductivo para la actividad de planificación en el diagnóstico y tratamiento médico-clínico; una novedosa metodología de aprendizaje inductivo para la actividad de decisión en el pronóstico médico-clínico, y finalmente, un nuevo modelo computable, basado en datos y conocimiento, que integra las actividades de decisión y planificación para el diagnóstico, tratamiento y pronóstico médico-clínicos.The concept of medical procedure refers to the set of activities carried out by the health care professionals to solve or mitigate the health problems that affect a patient. Decisions making within a medical procedure has been, for a long time, one of the most interesting research areas in medical informatics and the research context of this thesis. The motivation to develop this research work is based on three main aspects: Nowadays there are not knowledge models for all the medical-clinical activities that can be induced from medical data, there are not inductive learning solutions for all the medical-clinical activities, and there is not an integral model that formalizes the concept of medical procedure. Therefore, our main objective is to develop a computable model based in knowledge that integrates all the decision and planning activities for the medical-clinical diagnosis, treatment and prognosis. To achieve this main objective: first, we explain the research problem. Second, we describe the background of the work from both the medical and the informatics contexts. Third, we explain the development of the research proposal based on four main contributions: a novel knowledge representation model, based in data, to the planning activity in medical-clinical diagnosis and treatment; a novel inductive learning methodology to the planning activity in diagnosis and medical-clinical treatment; a novel inductive learning methodology to the decision activity in medical-clinical prognosis, and finally, a novel computable model, based on data and knowledge, which integrates the decision and planning activities of medical-clinical diagnosis, treatment and prognosis