Electronic Health Records

Health literacy is a critical determinant of patient outcomes, yet current screening tools are not always feasible and differ considerably in the number of items, question format, and dimensions of health literacy they capture, making documentation in structured electronic health records difficult to achieve. Automated detection from unstructured clinical notes offers a promising alternative, as these notes often contain richer, more contextual health literacy information, but progress has been limited by the lack of annotated resources. We introduce HEALIX, the first publicly available annotated health literacy dataset derived from real clinical notes, curated through a combination of social worker note sampling, keyword-based filtering, and LLM-based active learning. HEALIX contains 589 notes across 9 note types, annotated with three health literacy labels: low, normal, and high. To demonstrate its utility, we benchmarked zero-shot and few-shot prompting strategies across four open source large language models (LLMs).

This study investigates the adoption and effectiveness of AI-based anomaly detection in cross-provider electronic health record (EHR) environments. It aims to (1) identify the organisational and digital capabilities required for successful implementation and (2) evaluate the performance and interpretability of lightweight anomaly detection approaches using contextual audit data. A semi-systematic scoping synthesis is conducted to derive a four-pillar readiness framework covering governance, infrastructure/interoperability, workforce, and AI integration, operationalised as a 10-item checklist with measurable indicators. This is complemented by a simulation of cross-provider audit logs incorporating contextual features such as provider mismatch, time of access, days since discharge, session duration, and access frequency. A rule-based approach is benchmarked against Isolation Forest, with SHAP used to explain model behaviour. Results show that rule-based methods achieve high recall but generate higher alert volumes, while Isolation Forest reduces alert burden at the cost of lower sensitivity. SHAP analysis highlights provider mismatch and off-hours access as dominant anomaly drivers. The study proposes a staged deployment strategy combining rules for coverage and machine learning for prioritisation, supported by explainability and continuous monitoring. The findings contribute a practical readiness framework and empirical insights to guide the implementation of AI-based anomaly detection in multi-provider healthcare environments.

Gender-based violence (GBV) is a major public health issue, with the World Health Organization estimating that one in three women experiences physical or sexual violence by an intimate partner during her lifetime. In Brazil, although healthcare professionals are legally required to report such cases, underreporting remains significant due to difficulties in identifying abuse and limited integration between public information systems. This study investigates whether FrameNet-based semantic annotation of open-text fields in electronic medical records can support the identification of patterns of GBV. We compare the performance of an SVM classifier for GBV cases trained on (1) frame-annotated text, (2) annotated text combined with parameterized data, and (3) parameterized data alone. Quantitative and qualitative analyses show that models incorporating semantic annotation outperform categorical models, achieving over 0.3 improvement in F1 score and demonstrating that domain-specific semantic representations provide meaningful signals beyond structured demographic data. The findings support the hypothesis that semantic analysis of clinical narratives can enhance early identification strategies and support more informed public health interventions.

Most automated electronic medical record (EMR) pipelines remain output-oriented: they transcribe, extract, and summarize after the consultation, but they do not explicitly model what is already known, what is still missing, which uncertainty matters most, or what question or recommendation should come next. We formulate doctor-patient dialogue as a proactive knowledge-inquiry problem under partial observability. The proposed framework combines stateful extraction, sequential belief updating, gap-aware state modeling, hybrid retrieval over objectified medical knowledge, and a POMDP-lite action planner. Instead of treating the EMR as the only target artifact, the framework treats documentation as the structured projection of an ongoing inquiry loop. To make the formulation concrete, we report a controlled pilot evaluation on ten standardized multi-turn dialogues together with a 300-query retrieval benchmark aggregated across dialogues. On this pilot protocol, the full framework reaches 83.3% coverage, 80.0% risk recall, 81.4% structural completeness, and lower redundancy than the chunk-only and template-heavy interactive baselines. These pilot results do not establish clinical generalization; rather, they suggest that proactive inquiry may be methodologically interesting under tightly controlled conditions and can be viewed as a conceptually appealing formulation worth further investigation for dialogue-based EMR generation. This work should be read as a pilot concept demonstration under a controlled simulated setting rather than as evidence of clinical deployment readiness. No implication of clinical deployment readiness, clinical safety, or real-world clinical utility should be inferred from this pilot protocol.

Most dialogue-based electronic medical record (EMR) systems still behave as passive pipelines: transcribe speech, extract information, and generate the final note after the consultation. That design improves documentation efficiency, but it is insufficient for proactive consultation support because it does not explicitly address streaming speech noise, missing punctuation, unstable diagnostic belief, objectification quality, or measurable next-action gains. We present an end-to-end proactive EMR assistant built around streaming speech recognition, punctuation restoration, stateful extraction, belief stabilization, objectified retrieval, action planning, and replayable report generation. The system is evaluated in a preliminary controlled setting using ten streamed doctor-patient dialogues and a 300-query retrieval benchmark aggregated across dialogues. The full system reaches state-event F1 of 0.84, retrieval Recall@5 of 0.87, and end-to-end pilot scores of 83.3% coverage, 81.4% structural completeness, and 80.0% risk recall. Ablations further suggest that punctuation restoration and belief stabilization may improve downstream extraction, retrieval, and action selection within this pilot. These results were obtained under a controlled simulated pilot setting rather than broad deployment claims, and they should not be read as evidence of clinical deployment readiness, clinical safety, or real-world clinical utility. Instead, they suggest that the proposed online architecture may be technically coherent and directionally supportive under tightly controlled pilot conditions. The present study should be read as a pilot concept demonstration under tightly controlled pilot conditions rather than as evidence of clinical deployment readiness or clinical generalizability.

The widespread adoption of electronic health records (EHRs) enables the acquisition of heterogeneous clinical data, spanning lab tests, vital signs, medications, and procedures, which offer transformative potential for artificial intelligence in healthcare. Although traditional modelling approaches have typically relied on multivariate time series, they often struggle to accommodate the inherent sparsity and irregularity of real-world clinical workflows. Consequently, research has shifted toward event stream representation, which treats patient records as continuous sequences, thereby preserving the precise temporal structure of the patient journey. However, the existing literature remains fragmented, characterised by inconsistent definitions, disparate modelling architectures, and varying training protocols. To address these gaps, this review establishes a unified definition of EHR event streams and introduces a novel taxonomy that categorises models based on their handling of event time, type, and value. We systematically review training strategies, ranging from supervised learning to self-supervised methods, and provide a comprehensive discussion of applications across clinical scenarios. Finally, we identify open critical challenges and future directions, with the aim of clarifying the current landscape and guiding the development of next-generation healthcare models.

Large-scale EHR prediction across institutions is hindered by substantial heterogeneity in schemas and code systems. Although Common Data Models (CDMs) can standardize records for multi-institutional learning, the manual harmonization and vocabulary mapping are costly and difficult to scale. Text-based harmonization provides an alternative by converting raw EHR into a unified textual form, enabling pooled learning without explicit standardization. However, applying this paradigm to multi-national datasets introduces an additional layer of heterogeneity, which is "language" that must be addressed for truly scalable EHRs learning. In this work, we investigate multilingual multi-institutional learning for EHR prediction, aiming to enable pooled training across multinational ICU datasets without manual standardization. We compare two practical strategies for handling language barriers: (i) directly modeling multilingual records with multilingual encoders, and (ii) translating non-English records into English via LLM-based word-level translation. Across seven public ICU datasets, ten clinical tasks with multiple prediction windows, translation-based lingual alignment yields more reliable cross-dataset performance than multilingual encoders. The multi-institutional learning model consistently outperforms strong baselines that require manual feature selection and harmonization, and also surpasses single-dataset training. We further demonstrate that text-based framework with lingual alignment effectively performs transfer learning via few-shot fine-tuning, with additional gains. To our knowledge, this is the first study to aggregate multilingual multinational ICU EHR datasets into one predictive model, providing a scalable path toward language-agnostic clinical prediction and future global multi-institutional EHR research.

In recent years, progress in medical informatics and machine learning has been accelerated by the availability of openly accessible benchmark datasets. However, patient-level electronic medical record (EMR) data are rarely available for teaching or methodological development due to privacy, governance, and re-identification risks. This has limited reproducibility, transparency, and hands-on training in cardiovascular risk modelling. Here we introduce PRIME-CVD, a parametrically rendered informatics medical environment designed explicitly for medical education. PRIME-CVD comprises two openly accessible synthetic data assets representing a cohort of 50,000 adults undergoing primary prevention for cardiovascular disease. The datasets are generated entirely from a user-specified causal directed acyclic graph parameterised using publicly available Australian population statistics and published epidemiologic effect estimates, rather than from patient-level EMR data or trained generative models. Data Asset 1 provides a clean, analysis-ready cohort suitable for exploratory analysis, stratification, and survival modelling, while Data Asset 2 restructures the same cohort into a relational, EMR-style database with realistic structural and lexical heterogeneity. Together, these assets enable instruction in data cleaning, harmonisation, causal reasoning, and policy-relevant risk modelling without exposing sensitive information. Because all individuals and events are generated de novo, PRIME-CVD preserves realistic subgroup imbalance and risk gradients while ensuring negligible disclosure risk. PRIME-CVD is released under a Creative Commons Attribution 4.0 licence to support reproducible research and scalable medical education.

Accurate and interpretable mortality risk prediction in intensive care units (ICUs) remains a critical challenge due to the irregular temporal structure of electronic health records (EHRs), the complexity of longitudinal disease trajectories, and the lack of clinically grounded explanations in many data-driven models. To address these challenges, we propose TA-RNN-Medical-Hybrid, a time-aware and knowledge-enriched deep learning framework that jointly models longitudinal clinical sequences and irregular temporal dynamics through explicit continuous-time encoding, along with standardized medical concept representations. The proposed framework extends time-aware recurrent modeling by integrating explicit continuous-time embeddings that operate independently of visit indexing, SNOMED-based disease representations, and a hierarchical dual-level attention mechanism that captures both visit-level temporal importance and feature/concept-level clinical relevance. This design enables accurate mortality risk estimation while providing transparent and clinically meaningful explanations aligned with established medical knowledge. We evaluate the proposed approach on the MIMIC-III critical care dataset and compare it against strong time-aware and sequential baselines. Experimental results demonstrate that TA-RNN-Medical-Hybrid consistently improves predictive performance in terms of AUC, accuracy, and recall-oriented F$_2$-score. Moreover, qualitative analysis shows that the model effectively decomposes mortality risk across time and clinical concepts, yielding interpretable insights into disease severity, chronicity, and temporal progression. Overall, the proposed framework bridges the gap between predictive accuracy and clinical interpretability, offering a scalable and transparent solution for high-stakes ICU decision support systems.

Autoregressive foundation models for electronic health records can make predictions for diverse clinical tasks without finetuning. These methods work by generating possible "synthetic futures" for patients, and then inferring downstream predictions over these simulated trajectories. Despite their strong capabilities, these methods have several flaws. (1) Inference is extremely computationally expensive, as each prediction requires simulating many trajectories, each with many observations. (2) Their performance is noisy due to the variance inherent to simulation, which in particular reduces efficacy on rare events, which are often of high importance clinically. (3) They are not promptable, as their only input is the patient's medical history, requiring indirect aggregation at inference time. We introduce EveryQuery, a promptable foundation model for structured EHR data. Building on the insight that clinical prediction tasks can be written in a structured query language, EveryQuery takes a query as a prompt alongside the patient's history and estimates the outcome directly. This allows EveryQuery to make predictions across diverse clinical tasks, such as classification and survival modeling, without simulation or finetuning. Across three EHR datasets, EveryQuery outperforms a competitive autoregressive baseline on clinically relevant classification and time-to-event tasks, with mean AUROC gains of 14.3% and 12.7% on MIMIC-IV and a large academic medical center and comparable performance on the smaller NWICU dataset. Its advantage is largest for rare outcomes, and it requires 580x less inference compute.

Extracting insights from Electronic Health Record (EHR) databases often requires SQL expertise, creating a barrier for clinical decision-making and research. A promising approach is to use Large Language Models (LLMs) to translate natural language questions into SQL through Retrieval-Augmented Generation (RAG), where relevant question-SQL examples are retrieved to generate new queries via few-shot learning. However, adapting this method to the medical domain is non-trivial, as effective retrieval requires examples that align with both the logical structure of the question and its referenced entities (e.g., drug names, procedure titles). Standard single-step RAG struggles to optimize both aspects simultaneously and often relies on near-exact matches to generalize effectively. This issue is especially severe in healthcare, as questions often contain noisy and inconsistent medical jargon. To address this, we present CBR-to-SQL, a framework inspired by Case-based Reasoning theory that decomposes RAG's single-step retrieval into two explicit stages: one that focuses on retrieving structurally relevant examples, and one that aligns entities with the target database schema. Evaluated on two clinical benchmarks, CBR-to-SQL achieves competitive accuracies compared to fine-tuned methods. More importantly, it demonstrates considerably higher sample efficiency and robustness than the standard RAG approach, particularly under data scarcity and retrieval perturbations.

Foundation models for structured electronic health records (EHRs) are pretrained on longitudinal sequences of timestamped clinical events to learn adaptable patient representations. Tokenization -- how these timelines are converted into discrete model inputs -- determines what information is preserved, how efficiently it is encoded, and which relationships must be learned versus precomputed. Yet the impact of tokenization design choices on downstream performance and computational efficiency remains largely unexplored. Here, we pretrained a transformer on pediatric EHR data under a factorial design, varying tokenization along event encoding, time encoding, and workflow annotation. We evaluated area-under-the-receiver-operating-characteristic curve across 74 clinical prediction tasks. Joint event encoding and positional time encoding outperformed their alternatives (73/74 and 71/74 tasks) while requiring 39.5% and 9.6% fewer pretraining floating-point operations, respectively. Targeted ablations traced the joint encoding advantage to local binding efficiency, that is, code-attribute pairs are combined into single tokens, rather than split across tokens that the model must learn to associate during pretraining. External evaluation on an adult intensive care unit cohort demonstrated that this advantage generalizes despite substantial vocabulary mismatch, while temporal and workflow effects remain institution-specific. These results establish tokenization as a tractable lever for improving both the performance and efficiency of EHR foundation models.

Longitudinal electronic health record (EHR) data are often left-censored, making diagnosis records incomplete and unreliable for determining disease onset. In contrast, outpatient prescriptions form renewal-based trajectories that provide a continuous signal of disease management. We propose a probabilistic framework to infer chronic treatment onset by modeling prescription dynamics as a renewal process and detecting transitions from sporadic to sustained therapy via change-point detection between a baseline Poisson (sporadic prescribing) regime and a regime-specific Weibull (sustained therapy) renewal model. Using a nationwide ePrescription dataset of 2.4 million individuals, we show that the approach yields more temporally plausible onset estimates than naive rule-based triggering, substantially reducing implausible early detections under strong left censoring. Detection performance varies across diseases and is strongly associated with prescription density, highlighting both the strengths and limits of treatment-based onset inference.

Machine learning holds promise for advancing clinical decision support, yet it remains unclear when multimodal learning truly helps in practice, particularly under modality missingness and fairness constraints. In this work, we conduct a systematic benchmark of multimodal fusion between Electronic Health Records (EHR) and chest X-rays (CXR) on standardized cohorts from MIMIC-IV and MIMIC-CXR, aiming to answer four fundamental questions: when multimodal fusion improves clinical prediction, how different fusion strategies compare, how robust existing methods are to missing modalities, and whether multimodal models achieve algorithmic fairness. Our study reveals several key insights. Multimodal fusion improves performance when modalities are complete, with gains concentrating in diseases that require complementary information from both EHR and CXR. While cross-modal learning mechanisms capture clinically meaningful dependencies beyond simple concatenation, the rich temporal structure of EHR introduces strong modality imbalance that architectural complexity alone cannot overcome. Under realistic missingness, multimodal benefits rapidly degrade unless models are explicitly designed to handle incomplete inputs. Moreover, multimodal fusion does not inherently improve fairness, with subgroup disparities mainly arising from unequal sensitivity across demographic groups. To support reproducible and extensible evaluation, we further release a flexible benchmarking toolkit that enables plug-and-play integration of new models and datasets. Together, this work provides actionable guidance on when multimodal learning helps, when it fails, and why, laying the foundation for developing clinically deployable multimodal systems that are both effective and reliable. The open-source toolkit can be found at https://github.com/jakeykj/CareBench.

Though patients are increasingly granted digital access to their electronic health records (EHRs), existing interfaces may not support precise, trustworthy answers to patient-specific questions. Large language models (LLM) show promise in clinical question answering (QA), but retrieval-based approaches are computationally inefficient, prone to hallucination, and difficult to deploy over real-life EHRs. This work introduces FHIRPath-QA, the first open dataset and benchmark for patient-specific QA that includes open-standard FHIRPath queries over real-world clinical data. A text-to-FHIRPath QA paradigm is proposed that shifts reasoning from free-text generation to FHIRPath query synthesis. For o4-mini, this reduced average token usage by 391x relative to retrieval-first prompting (629,829 vs 1,609 tokens per question) and lowered failure rates from 0.36 to 0.09 on clinician-phrased questions. Built on MIMIC-IV on FHIR Demo, the dataset pairs over 14k natural language questions in patient and clinician phrasing with validated FHIRPath queries and answers. Empirically, the evaluated LLMs achieve at most 42% accuracy, highlighting the challenge of the task, but benefit strongly from supervised fine-tuning, with query synthesis accuracy improving from 27% to 79% for 4o-mini. These results highlight that text-to-FHIRPath synthesis has the potential to serve as a practical foundation for safe, efficient, and interoperable consumer health applications, and the FHIRPath-QA dataset and benchmark serve as a starting point for future research on the topic. The full dataset and generation code can be accessed at: https://github.com/mooshifrew/fhirpath-qa.

Machine learning holds great promise for advancing the field of medicine, with electronic health records (EHRs) serving as a primary data source. However, EHRs are often sparse and contain missing data due to various challenges and limitations in data collection and sharing between healthcare providers. Existing techniques for imputing missing values predominantly focus on known unknowns, such as missing or unavailable values of lab test results; most do not explicitly address situations where it is difficult to distinguish what is missing. For instance, a missing diagnosis code in an EHR could signify either that the patient has not been diagnosed with the condition or that a diagnosis was made, but not shared by a provider. Such situations fall into the paradigm of unknown unknowns. To address this challenge, we develop a general purpose algorithm for denoising data to recover unknown missing values in binary EHRs. We design a transformer-based denoising neural network where the output is thresholded adaptively to recover values in cases where we predict data are missing. Our results demonstrate improved accuracy in denoising medical codes within a real EHR dataset compared to existing imputation approaches and leads to increased performance on downstream tasks using the denoised data. In particular, when applying our method to a real world application, predicting hospital readmission from EHRs, our method achieves statistically significant improvement over all existing baselines.

Managing personal health data is a challenge in today's fragmented and institution-centric healthcare ecosystem. Individuals often lack meaningful control over their medical records, which are scattered across incompatible systems and formats. This vision paper presents Health+, a user-centric, multimodal health data management system that empowers individuals (including those with limited technical expertise) to upload, query, and share their data across modalities (e.g., text, images, reports). Rather than aiming for institutional overhaul, Health+ emphasizes individual agency by providing intuitive interfaces and intelligent recommendations for data access and sharing. At the system level, it tackles the complexity of storing, integrating, and securing heterogeneous health records, ensuring both efficiency and privacy. By unifying multimodal data and prioritizing patients, Health+ lays the foundation for a more connected, interpretable, and user-controlled health information ecosystem.

Clinical free-text notes contain vital patient information. They are structured into labelled sections; recognizing these sections has been shown to support clinical decision-making and downstream NLP tasks. In this paper, we advance clinical section segmentation through three key contributions. First, we curate a new de-identified, section-labeled obstetrics notes dataset, to supplement the medical domains covered in public corpora such as MIMIC-III, on which most existing segmentation approaches are trained. Second, we systematically evaluate transformer-based supervised models for section segmentation on a curated subset of MIMIC-III (in-domain), and on the new obstetrics dataset (out-of-domain). Third, we conduct the first head-to-head comparison of supervised models for medical section segmentation with zero-shot large language models. Our results show that while supervised models perform strongly in-domain, their performance drops substantially out-of-domain. In contrast, zero-shot models demonstrate robust out-of-domain adaptability once hallucinated section headers are corrected. These findings underscore the importance of developing domain-specific clinical resources and highlight zero-shot segmentation as a promising direction for applying healthcare NLP beyond well-studied corpora, as long as hallucinations are appropriately managed.

Latent space models are widely used for analyzing high-dimensional discrete data matrices, such as patient-feature matrices in electronic health records (EHRs), by capturing complex dependence structures through low-dimensional embeddings. However, estimation becomes challenging in the imbalanced regime, where one matrix dimension is much larger than the other. In EHR applications, cohort sizes are often limited by disease prevalence or data availability, whereas the feature space remains extremely large due to the breadth of medical coding system. Motivated by the increasing availability of external semantic embeddings, such as pre-trained embeddings of clinical concepts in EHRs, we propose a knowledge-embedded latent projection model that leverages semantic side information to regularize representation learning. Specifically, we model column embeddings as smooth functions of semantic embeddings via a mapping in a reproducing kernel Hilbert space. We develop a computationally efficient two-step estimation procedure that combines semantically guided subspace construction via kernel principal component analysis with scalable projected gradient descent. We establish estimation error bounds that characterize the trade-off between statistical error and approximation error induced by the kernel projection. Furthermore, we provide local convergence guarantees for our non-convex optimization procedure. Extensive simulation studies and a real-world EHR application demonstrate the effectiveness of the proposed method.

Electronic health records (EHR) arrive masked. Clinicians order measurements selectively, and any patient table thus contains only a subset of the values that characterize the underlying physiological state. Prior masked modeling approaches on EHR data either impute the table before learning, represent missingness through a dedicated placeholder signal, or optimize solely for imputation, which limits the representations they learn for downstream clinical tasks and carries every unobserved entry through the encoder. We introduce AID-MAE, an Augmented-Intrinsic Dual-Masked Autoencoder that learns directly from incomplete tables by combining the intrinsic mask the record already carries with an augmented mask that hides a subset of observed values for reconstruction during pretraining. Neither type of masked entry enters the encoder, so attention operates only over what was observed. AID-MAE achieves consistent improvements over strong baselines across multiple clinical tasks on two datasets. Across experiments, we discuss that recovering the missing entries is not a prerequisite for learning and show that the representations learned carry clinical structure without supervision.

Generative AI can encode substantial medical knowledge, but patient-specific answers remain constrained by the context supplied at inference time. Electronic health records and FHIR support documentation and interoperability, but they do not by themselves define the complete, current, and auditable context a model should receive. Similarity-based retrieval can find related text, but it neither guarantees collection of clinically connected records nor makes omissions explicit. We introduce MedBeads, an AI-facing clinical record substrate that assembles a declared closure of longitudinal patient information before generation. A Bead is an immutable clinical or knowledge object identified by SHA-256 over canonical content and stored as an append-only frame in a patient-scoped Pod. Structural parent edges form a patient-rooted Merkle DAG. Typed clinical links occupy a separate, reconstructable interpretation layer derived from signed, versioned knowledge rules; they can be recomputed when knowledge changes without rewriting clinical facts. Retrieval follows authorized structural and clinical edges, resolves amendments and retractions, and reports policy or token truncation. An open-source Go implementation uses append-only Pods and reconstructable SQLite projections. File-based conversion of 1,135 synthetic Synthea FHIR bundles produced approximately one million Beads and demonstrated deterministic clinical-link derivation and interpretation-layer reconstruction. These engineering results establish feasibility and reproducibility, not reduced hallucination or improved clinical outcomes. MedBeads reframes grounding as a data-structure problem by delivering a policy-bounded, provenance-bearing clinical subgraph rather than an opaque list of similar fragments.