A framework for enhancing the query and medical record representations for patient search

Electronic medical records (EMRs) are digital documents stored by medical institutions that detail the observed symptoms, the conducted diagnostic tests, the identified diagnoses and the prescribed treatments. These EMRs are being increasingly used worldwide to improve healthcare services. For example, when a doctor compiles the possible treatments for a patient showing some particular symptoms, it is advantageous to consult the information about patients who were previously treated for those same symptoms. However, finding patients with particular medical conditions is challenging, due to the implicit knowledge inherent within the patients' medical records and queries - such knowledge may be known by medical practitioners, but may be hidden from an information retrieval (IR) system. For instance, the mention of a treatment such as a drug may indicate to a practitioner that a particular diagnosis has been made for the patient, but this diagnosis may not be explicitly mentioned in the patient's medical records. Moreover, the use of negated language (e.g.\ `without', `no') to describe a medical condition of a patient (e.g.\ the patient has no fever) may cause a search system to erroneously retrieve that patient for a query when searching for patients with that medical condition (e.g.\ find patients with fever). This thesis focuses on enhancing the search of EMRs, with the aim of identifying patients with medical histories relevant to the medical conditions stated in a text query. During retrieval, a healthcare practitioner indicates a number of inclusion criteria describing the medical conditions of the patients of interest. To attain effective retrieval performance, we hypothesise that, in a patient search system, both the information needs and patients' histories should be represented based upon \emph{the medical decision process}. In particular, this thesis argues that since the medical decision process typically encompasses four aspects (symptom, diagnostic test, diagnosis and treatment), a patient search system should take into account these aspects and apply inferences to recover the possible implicit knowledge. We postulate that considering these aspects and their derived implicit knowledge at three different levels of the retrieval process (namely, sentence, medical record and inter-record levels) enhances the retrieval performance. Indeed, we propose a novel framework that can gain insights from EMRs and queries, by modelling and reasoning upon information during retrieval in terms of the four aforementioned aspects at the three levels of the retrieval process, and can use these insights to enhance patient search. Firstly, at the sentence level, we extract the medical conditions in the medical records and queries. In particular, we propose to represent only the medical conditions related to the four medical aspects in order to improve the accuracy of our search system. In addition, we identify the context (negative/positive) of terms, which leads to an accurate representation of the medical conditions both in the EMRs and queries. In particular, we aim to prevent patients whose EMRs state the medical conditions in the contexts different from the query from being ranked highly. For example, preventing patients whose EMRs state ``no history of dementia'' from being retrieved for a query searching for patients with dementia. Secondly, at the medical record level, using external knowledge-based resources (e.g.\ ontologies and health-related websites), we leverage the relationships between medical terms to infer the wider medical history of the patient in terms of the four medical aspects. In particular, we estimate the relevance of a patient to the query by exploiting association rules that we extract from the semantic relationships between medical terms using the four aspects of the medical process. For example, patients with a medical history involving a \emph{CABG surgery} (treatment) can be inferred as relevant to a query searching for a patient suffering from \emph{heart disease} (diagnosis), since a CABG surgery is a treatment of heart disease. Thirdly, at the inter-record level, we enhance the retrieval of patients in two different manners. First, we exploit knowledge about how the four medical aspects are handled by different hospital departments to gain a better understanding about the appropriateness of EMRs created by different departments for a given query. We propose to aggregate EMRs at the department level (i.e.\ inter-record level) to extract implicit knowledge (i.e.\ the expertise of each department) and model this department's expertise, while ranking patients. For instance, patients having EMRs from the cardiology department are likely to be relevant to a query searching for patients who suffered from a heart attack. Second, as a medical query typically contains several medical conditions that the relevant patients should satisfy, we propose to explicitly model the relevance towards multiple query medical conditions in the EMRs related to a particular patient during retrieval. In particular, we rank highly those patients that match all the stated medical conditions in the query by adapting coverage-based diversification approaches originally proposed for the web search domain. Finally, we examine the combination of our aforementioned approaches that exploit the implicit knowledge at the three levels of the retrieval process to further improve the retrieval performance by adapting techniques from the fields of data fusion and machine learning. In particular, data fusion techniques, such as CombSUM and CombMNZ, are used to combine the relevance scores computed by the different approaches of the proposed framework. On the other hand, we deploy state-of-the-art learning to rank approaches (e.g.\ LambdaMART and AdaRank) to learn from a set of training data an effective combination of the relevance scores computed by the approaches of the framework. In addition, we introduce a novel selective ranking approach that uses a classifier to effectively apply one of the approaches of the framework on a per-query basis. This thesis draws insights from a thorough evaluation and analysis of the proposed framework using a standard test collection provided by the TREC Medical Records track. The experimental results show the effectiveness of the framework. In particular, the results demonstrate the importance of dealing with the implicit knowledge in patient search by focusing on the medical decision criteria aspects at the three levels of the retrieval process

Using clinical text to refine unspecific condition codes in Dutch general practitioner EHR data

Objective: Observational studies using electronic health record (EHR) databases often face challenges due to unspecific clinical codes that can obscure detailed medical information, hindering precise data analysis. In this study, we aimed to assess the feasibility of refining these unspecific condition codes into more specific codes in a Dutch general practitioner (GP) EHR database by leveraging the available clinical free text. Methods: We utilized three approaches for text classification—search queries, semi-supervised learning, and supervised learning—to improve the specificity of ten unspecific International Classification of Primary Care (ICPC-1) codes. Two text representations and three machine learning algorithms were evaluated for the (semi-)supervised models. Additionally, we measured the improvement achieved by the refinement process on all code occurrences in the database. Results: The classification models performed well for most codes. In general, no single classification approach consistently outperformed the others. However, there were variations in the relative performance of the classification approaches within each code and in the use of different text representations and machine learning algorithms. Class imbalance and limited training data affected the performance of the (semi-)supervised models, yet the simple search queries remained particularly effective. Ultimately, the developed models improved the specificity of over half of all the unspecific code occurrences in the database. Conclusions: Our findings show the feasibility of using information from clinical text to improve the specificity of unspecific condition codes in observational healthcare databases, even with a limited range of machine-learning techniques and modest annotated training sets. Future work could investigate transfer learning, integration of structured data, alternative semi-supervised methods, and validation of models across healthcare settings. The improved level of detail enriches the interpretation of medical information and can benefit observational research and patient care.</p

Using clinical text to refine unspecific condition codes in Dutch general practitioner EHR data

Objective: Observational studies using electronic health record (EHR) databases often face challenges due to unspecific clinical codes that can obscure detailed medical information, hindering precise data analysis. In this study, we aimed to assess the feasibility of refining these unspecific condition codes into more specific codes in a Dutch general practitioner (GP) EHR database by leveraging the available clinical free text. Methods: We utilized three approaches for text classification—search queries, semi-supervised learning, and supervised learning—to improve the specificity of ten unspecific International Classification of Primary Care (ICPC-1) codes. Two text representations and three machine learning algorithms were evaluated for the (semi-)supervised models. Additionally, we measured the improvement achieved by the refinement process on all code occurrences in the database. Results: The classification models performed well for most codes. In general, no single classification approach consistently outperformed the others. However, there were variations in the relative performance of the classification approaches within each code and in the use of different text representations and machine learning algorithms. Class imbalance and limited training data affected the performance of the (semi-)supervised models, yet the simple search queries remained particularly effective. Ultimately, the developed models improved the specificity of over half of all the unspecific code occurrences in the database. Conclusions: Our findings show the feasibility of using information from clinical text to improve the specificity of unspecific condition codes in observational healthcare databases, even with a limited range of machine-learning techniques and modest annotated training sets. Future work could investigate transfer learning, integration of structured data, alternative semi-supervised methods, and validation of models across healthcare settings. The improved level of detail enriches the interpretation of medical information and can benefit observational research and patient care.</p

Three Essays on Enhancing Clinical Trial Subject Recruitment Using Natural Language Processing and Text Mining

Patient recruitment and enrollment are critical factors for a successful clinical trial; however, recruitment tends to be the most common problem in most clinical trials. The success of a clinical trial depends on efficiently recruiting suitable patients to conduct the trial. Every clinical trial research has a protocol, which describes what will be done in the study and how it will be conducted. Also, the protocol ensures the safety of the trial subjects and the integrity of the data collected. The eligibility criteria section of clinical trial protocols is important because it specifies the necessary conditions that participants have to satisfy. Since clinical trial eligibility criteria are usually written in free text form, they are not computer interpretable. To automate the analysis of the eligibility criteria, it is therefore necessary to transform those criteria into a computer-interpretable format. Unstructured format of eligibility criteria additionally create search efficiency issues. Thus, searching and selecting appropriate clinical trials for a patient from relatively large number of available trials is a complex task. A few attempts have been made to automate the matching process between patients and clinical trials. However, those attempts have not fully integrated the entire matching process and have not exploited the state-of-the-art Natural Language Processing (NLP) techniques that may improve the matching performance. Given the importance of patient recruitment in clinical trial research, the objective of this research is to automate the matching process using NLP and text mining techniques and, thereby, improve the efficiency and effectiveness of the recruitment process. This dissertation research, which comprises three essays, investigates the issues of clinical trial subject recruitment using state-of-the-art NLP and text mining techniques. Essay 1: Building a Domain-Specific Lexicon for Clinical Trial Subject Eligibility Analysis Essay 2: Clustering Clinical Trials Using Semantic-Based Feature Expansion Essay 3: An Automatic Matching Process of Clinical Trial Subject Recruitment In essay1, I develop a domain-specific lexicon for n-gram Named Entity Recognition (NER) in the breast cancer domain. The domain-specific dictionary is used for selection and reduction of n-gram features in clustering in eassy2. The domain-specific dictionary was evaluated by comparing it with Systematized Nomenclature of Medicine--Clinical Terms (SNOMED CT). The results showed that it add significant number of new terms which is very useful in effective natural language processing In essay 2, I explore the clustering of similar clinical trials using the domain-specific lexicon and term expansion using synonym from the Unified Medical Language System (UMLS). I generate word n-gram features and modify the features with the domain-specific dictionary matching process. In order to resolve semantic ambiguity, a semantic-based feature expansion technique using UMLS is applied. A hierarchical agglomerative clustering algorithm is used to generate clinical trial clusters. The focus is on summarization of clinical trial information in order to enhance trial search efficiency. Finally, in essay 3, I investigate an automatic matching process of clinical trial clusters and patient medical records. The patient records collected from a prior study were used to test our approach. The patient records were pre-processed by tokenization and lemmatization. The pre-processed patient information were then further enhanced by matching with breast cancer custom dictionary described in essay 1 and semantic feature expansion using UMLS Metathesaurus. Finally, I matched the patient record with clinical trial clusters to select the best matched cluster(s) and then with trials within the clusters. The matching results were evaluated by internal expert as well as external medical expert

A Learning Health System for Radiation Oncology

The proposed research aims to address the challenges faced by clinical data science researchers in radiation oncology accessing, integrating, and analyzing heterogeneous data from various sources. The research presents a scalable intelligent infrastructure, called the Health Information Gateway and Exchange (HINGE), which captures and structures data from multiple sources into a knowledge base with semantically interlinked entities. This infrastructure enables researchers to mine novel associations and gather relevant knowledge for personalized clinical outcomes. The dissertation discusses the design framework and implementation of HINGE, which abstracts structured data from treatment planning systems, treatment management systems, and electronic health records. It utilizes disease-specific smart templates for capturing clinical information in a discrete manner. HINGE performs data extraction, aggregation, and quality and outcome assessment functions automatically, connecting seamlessly with local IT/medical infrastructure. Furthermore, the research presents a knowledge graph-based approach to map radiotherapy data to an ontology-based data repository using FAIR (Findable, Accessible, Interoperable, Reusable) concepts. This approach ensures that the data is easily discoverable and accessible for clinical decision support systems. The dissertation explores the ETL (Extract, Transform, Load) process, data model frameworks, ontologies, and provides a real-world clinical use case for this data mapping. To improve the efficiency of retrieving information from large clinical datasets, a search engine based on ontology-based keyword searching and synonym-based term matching tool was developed. The hierarchical nature of ontologies is leveraged to retrieve patient records based on parent and children classes. Additionally, patient similarity analysis is conducted using vector embedding models (Word2Vec, Doc2Vec, GloVe, and FastText) to identify similar patients based on text corpus creation methods. Results from the analysis using these models are presented. The implementation of a learning health system for predicting radiation pneumonitis following stereotactic body radiotherapy is also discussed. 3D convolutional neural networks (CNNs) are utilized with radiographic and dosimetric datasets to predict the likelihood of radiation pneumonitis. DenseNet-121 and ResNet-50 models are employed for this study, along with integrated gradient techniques to identify salient regions within the input 3D image dataset. The predictive performance of the 3D CNN models is evaluated based on clinical outcomes. Overall, the proposed Learning Health System provides a comprehensive solution for capturing, integrating, and analyzing heterogeneous data in a knowledge base. It offers researchers the ability to extract valuable insights and associations from diverse sources, ultimately leading to improved clinical outcomes. This work can serve as a model for implementing LHS in other medical specialties, advancing personalized and data-driven medicine

Autoencoder-based Image Recommendation for Lung Cancer Characterization

Neste projeto, temos como objetivo desenvolver um sistema de IA que recomende um conjunto de casos relativos (passados) para orientar a tomada de decisão do médico. Objetivo: A ambição é desenvolver um modelo de aprendizado baseado em IA para caracterização de câncer de pulmão, a fim de auxiliar na rotina clínica. Considerando a complexidade dos fenômenos biológicos que ocorrem durante o desenvolvimento do câncer, as relações entre eles e as manifestações visuais capturadas pela tomografia computadorizada (CT) têm sido exploradas nos últimos anos. No entanto, devido à falta de robustez dos métodos atuais de aprendizado profundo, essas correlações são frequentemente consideradas espúrias e se perdem quando confrontadas com dados coletados a partir de distribuições alteradas: diferentes instituições, características demográficas ou até mesmo estágios de desenvolvimento do câncer.In this project, we aim to develop an AI system that recommends a set of relative (past) cases to guide the decision-making of the clinician. Objective: The ambition is to develop an AI-based learning model for lung cancer characterization in order to assist in clinical routine. Considering the complexity of the biological phenomenat hat occur during cancer development, relationships between these and visual manifestations captured by CT have been explored in recent years; however, given the lack of robustness of current deep learning methods, these correlations are often found spurious and get lost when facing data collected from shifted distributions: different institutions, demographics or even stages of cancer development

Interoperability and FAIRness through a novel combination of Web technologies

Data in the life sciences are extremely diverse and are stored in a broad spectrum of repositories ranging from those designed for particular data types (such as KEGG for pathway data or UniProt for protein data) to those that are general-purpose (such as FigShare, Zenodo, Dataverse or EUDAT). These data have widely different levels of sensitivity and security considerations. For example, clinical observations about genetic mutations in patients are highly sensitive, while observations of species diversity are generally not. The lack of uniformity in data models from one repository to another, and in the richness and availability of metadata descriptions, makes integration and analysis of these data a manual, time-consuming task with no scalability. Here we explore a set of resource-oriented Web design patterns for data discovery, accessibility, transformation, and integration that can be implemented by any general- or special-purpose repository as a means to assist users in finding and reusing their data holdings. We show that by using off-the-shelf technologies, interoperability can be achieved atthe level of an individual spreadsheet cell. We note that the behaviours of this architecture compare favourably to the desiderata defined by the FAIR Data Principles, and can therefore represent an exemplar implementation of those principles. The proposed interoperability design patterns may be used to improve discovery and integration of both new and legacy data, maximizing the utility of all scholarly outputs