Daily Papers

This study concentrates on evaluating the efficacy of Large Language Models (LLMs) in healthcare, with a specific focus on their application in personal anomalous health monitoring. Our research primarily investigates the capabilities of LLMs in interpreting and analyzing physiological data obtained from FDA-approved devices. We conducted an extensive analysis using anomalous physiological data gathered in a simulated low-air-pressure plateau environment. This allowed us to assess the precision and reliability of LLMs in understanding and evaluating users' health status with notable specificity. Our findings reveal that LLMs exhibit exceptional performance in determining medical indicators, including a Mean Absolute Error (MAE) of less than 1 beat per minute for heart rate and less than 1% for oxygen saturation (SpO2). Furthermore, the Mean Absolute Percentage Error (MAPE) for these evaluations remained below 1%, with the overall accuracy of health assessments surpassing 85%. In image analysis tasks, such as interpreting photoplethysmography (PPG) data, our specially adapted GPT models demonstrated remarkable proficiency, achieving less than 1 bpm error in cycle count and 7.28 MAE for heart rate estimation. This study highlights LLMs' dual role as health data analysis tools and pivotal elements in advanced AI health assistants, offering personalized health insights and recommendations within the future health assistant framework.

In recent years, medical information technology has made it possible for electronic health record (EHR) to store fairly complete clinical data. This has brought health care into the era of "big data". However, medical data are often sparse and strongly correlated, which means that medical problems cannot be solved effectively. With the rapid development of deep learning in recent years, it has provided opportunities for the use of big data in healthcare. In this paper, we propose a temporal-saptial correlation attention network (TSCAN) to handle some clinical characteristic prediction problems, such as predicting death, predicting length of stay, detecting physiologic decline, and classifying phenotypes. Based on the design of the attention mechanism model, our approach can effectively remove irrelevant items in clinical data and irrelevant nodes in time according to different tasks, so as to obtain more accurate prediction results. Our method can also find key clinical indicators of important outcomes that can be used to improve treatment options. Our experiments use information from the Medical Information Mart for Intensive Care (MIMIC-IV) database, which is open to the public. Finally, we have achieved significant performance benefits of 2.0\% (metric) compared to other SOTA prediction methods. We achieved a staggering 90.7\% on mortality rate, 45.1\% on length of stay. The source code can be find: https://github.com/yuyuheintju/TSCAN.

Passively collected behavioral health data from ubiquitous sensors holds significant promise to provide mental health professionals insights from patient's daily lives; however, developing analysis tools to use this data in clinical practice requires addressing challenges of generalization across devices and weak or ambiguous correlations between the measured signals and an individual's mental health. To address these challenges, we take a novel approach that leverages large language models (LLMs) to synthesize clinically useful insights from multi-sensor data. We develop chain of thought prompting methods that use LLMs to generate reasoning about how trends in data such as step count and sleep relate to conditions like depression and anxiety. We first demonstrate binary depression classification with LLMs achieving accuracies of 61.1% which exceed the state of the art. While it is not robust for clinical use, this leads us to our key finding: even more impactful and valued than classification is a new human-AI collaboration approach in which clinician experts interactively query these tools and combine their domain expertise and context about the patient with AI generated reasoning to support clinical decision-making. We find models like GPT-4 correctly reference numerical data 75% of the time, and clinician participants express strong interest in using this approach to interpret self-tracking data.

The deployment of Large Language Models (LLM) on mobile devices offers significant potential for medical applications, enhancing privacy, security, and cost-efficiency by eliminating reliance on cloud-based services and keeping sensitive health data local. However, the performance and accuracy of on-device LLMs in real-world medical contexts remain underexplored. In this study, we benchmark publicly available on-device LLMs using the AMEGA dataset, evaluating accuracy, computational efficiency, and thermal limitation across various mobile devices. Our results indicate that compact general-purpose models like Phi-3 Mini achieve a strong balance between speed and accuracy, while medically fine-tuned models such as Med42 and Aloe attain the highest accuracy. Notably, deploying LLMs on older devices remains feasible, with memory constraints posing a greater challenge than raw processing power. Our study underscores the potential of on-device LLMs for healthcare while emphasizing the need for more efficient inference and models tailored to real-world clinical reasoning.

Social media platforms are vital resources for sharing self-reported health experiences, offering rich data on various health topics. Despite advancements in Natural Language Processing (NLP) enabling large-scale social media data analysis, a gap remains in applying keyphrase extraction to health-related content. Keyphrase extraction is used to identify salient concepts in social media discourse without being constrained by predefined entity classes. This paper introduces a theme-driven keyphrase extraction framework tailored for social media, a pioneering approach designed to capture clinically relevant keyphrases from user-generated health texts. Themes are defined as broad categories determined by the objectives of the extraction task. We formulate this novel task of theme-driven keyphrase extraction and demonstrate its potential for efficiently mining social media text for the use case of treatment for opioid use disorder. This paper leverages qualitative and quantitative analysis to demonstrate the feasibility of extracting actionable insights from social media data and efficiently extracting keyphrases using minimally supervised NLP models. Our contributions include the development of a novel data collection and curation framework for theme-driven keyphrase extraction and the creation of MOUD-Keyphrase, the first dataset of its kind comprising human-annotated keyphrases from a Reddit community. We also identify the scope of minimally supervised NLP models to extract keyphrases from social media data efficiently. Lastly, we found that a large language model (ChatGPT) outperforms unsupervised keyphrase extraction models, and we evaluate its efficacy in this task.

Machine learning models trained on Earth observation data, such as satellite imagery, have demonstrated significant promise in predicting household-level wealth indices, enabling the creation of high-resolution wealth maps that can be leveraged across multiple causal trials. However, because standard training objectives prioritize overall predictive accuracy, these predictions inherently suffer from shrinkage toward the mean, leading to attenuated estimates of causal treatment effects and limiting their utility in policy. Existing debiasing methods, such as Prediction-Powered Inference, can handle this attenuation bias but require additional fresh ground-truth data at the downstream stage of causal inference, which restricts their applicability in data-scarce environments. Here, we introduce and evaluate two correction methods -- linear calibration correction and Tweedie's correction -- that substantially reduce prediction bias without relying on newly collected labeled data. Linear calibration corrects bias through a straightforward linear transformation derived from held-out calibration data, whereas Tweedie's correction leverages empirical Bayes principles to directly address shrinkage-induced biases by exploiting score functions derived from the model's learning patterns. Through analytical exercises and experiments using Demographic and Health Survey data, we demonstrate that the proposed methods meet or outperform existing approaches that either require (a) adjustments to training pipelines or (b) additional labeled data. These approaches may represent a promising avenue for improving the reliability of causal inference when direct outcome measures are limited or unavailable, enabling a "one map, many trials" paradigm where a single upstream data creation team produces predictions usable by many downstream teams across diverse ML pipelines.

In recent years, there is strong emphasis on mining medical data using machine learning techniques. A common problem is to obtain a noiseless set of textual documents, with a relevant content for the research question, and developing a Question Answering (QA) model for a specific medical field. The purpose of this paper is to present a new methodology for building a medical dataset and obtain a QA model for analysis of symptoms and impact on daily life for a specific disease domain. The ``Mental Health'' forum was used, a forum dedicated to people suffering from schizophrenia and different mental disorders. Relevant posts of active users, who regularly participate, were extrapolated providing a new method of obtaining low-bias content and without privacy issues. Furthermore, it is shown how to pre-process the dataset to convert it into a QA dataset. The Bidirectional Encoder Representations from Transformers (BERT), DistilBERT, RoBERTa, and BioBERT models were fine-tuned and evaluated via F1-Score, Exact Match, Precision and Recall. Accurate empirical experiments demonstrated the effectiveness of the proposed method for obtaining an accurate dataset for QA model implementation. By fine-tuning the BioBERT QA model, we achieved an F1 score of 0.885, showing a considerable improvement and outperforming the state-of-the-art model for mental disorders domain.

Accurate prediction of major adverse cardiac events (MACE) remains a central challenge in cardiovascular prognosis. We present PRISM (Prompt-guided Representation Integration for Survival Modeling), a self-supervised framework that integrates visual representations from non-contrast cardiac cine magnetic resonance imaging with structured electronic health records (EHRs) for survival analysis. PRISM extracts temporally synchronized imaging features through motion-aware multi-view distillation and modulates them using medically informed textual prompts to enable fine-grained risk prediction. Across four independent clinical cohorts, PRISM consistently surpasses classical survival prediction models and state-of-the-art (SOTA) deep learning baselines under internal and external validation. Further clinical findings demonstrate that the combined imaging and EHR representations derived from PRISM provide valuable insights into cardiac risk across diverse cohorts. Three distinct imaging signatures associated with elevated MACE risk are uncovered, including lateral wall dyssynchrony, inferior wall hypersensitivity, and anterior elevated focus during diastole. Prompt-guided attribution further identifies hypertension, diabetes, and smoking as dominant contributors among clinical and physiological EHR factors.

False assumptions about sex and gender are deeply embedded in the medical system, including that they are binary, static, and concordant. Machine learning researchers must understand the nature of these assumptions in order to avoid perpetuating them. In this perspectives piece, we identify three common mistakes that researchers make when dealing with sex/gender data: "sex confusion", the failure to identity what sex in a dataset does or doesn't mean; "sex obsession", the belief that sex, specifically sex assigned at birth, is the relevant variable for most applications; and "sex/gender slippage", the conflation of sex and gender even in contexts where only one or the other is known. We then discuss how these pitfalls show up in machine learning studies based on electronic health record data, which is commonly used for everything from retrospective analysis of patient outcomes to the development of algorithms to predict risk and administer care. Finally, we offer a series of recommendations about how machine learning researchers can produce both research and algorithms that more carefully engage with questions of sex/gender, better serving all patients, including transgender people.

With the development of web technology, social media texts are becoming a rich source for automatic mental health analysis. As traditional discriminative methods bear the problem of low interpretability, the recent large language models have been explored for interpretable mental health analysis on social media, which aims to provide detailed explanations along with predictions. The results show that ChatGPT can generate approaching-human explanations for its correct classifications. However, LLMs still achieve unsatisfactory classification performance in a zero-shot/few-shot manner. Domain-specific finetuning is an effective solution, but faces 2 challenges: 1) lack of high-quality training data. 2) no open-source LLMs for interpretable mental health analysis were released to lower the finetuning cost. To alleviate these problems, we build the first multi-task and multi-source interpretable mental health instruction (IMHI) dataset on social media, with 105K data samples. The raw social media data are collected from 10 existing sources covering 8 mental health analysis tasks. We use expert-written few-shot prompts and collected labels to prompt ChatGPT and obtain explanations from its responses. To ensure the reliability of the explanations, we perform strict automatic and human evaluations on the correctness, consistency, and quality of generated data. Based on the IMHI dataset and LLaMA2 foundation models, we train MentalLLaMA, the first open-source LLM series for interpretable mental health analysis with instruction-following capability. We also evaluate the performance of MentalLLaMA on the IMHI evaluation benchmark with 10 test sets, where their correctness for making predictions and the quality of explanations are examined. The results show that MentalLLaMA approaches state-of-the-art discriminative methods in correctness and generates high-quality explanations.

Depression is a common mental illness that has to be detected and treated at an early stage to avoid serious consequences. There are many methods and modalities for detecting depression that involves physical examination of the individual. However, diagnosing mental health using their social media data is more effective as it avoids such physical examinations. Also, people express their emotions well in social media, it is desirable to diagnose their mental health using social media data. Though there are many existing systems that detects mental illness of a person by analysing their social media data, detecting the level of depression is also important for further treatment. Thus, in this research, we developed a gold standard data set that detects the levels of depression as `not depressed', `moderately depressed' and `severely depressed' from the social media postings. Traditional learning algorithms were employed on this data set and an empirical analysis was presented in this paper. Data augmentation technique was applied to overcome the data imbalance. Among the several variations that are implemented, the model with Word2Vec vectorizer and Random Forest classifier on augmented data outperforms the other variations with a score of 0.877 for both accuracy and F1 measure.

ImageNet has become a reputable resource for transfer learning, allowing the development of efficient ML models with reduced training time and data requirements. However, vibration analysis in predictive maintenance, structural health monitoring, and fault diagnosis, lacks a comparable large-scale, annotated dataset to facilitate similar advancements. To address this, a dataset framework is proposed that begins with bearing vibration data as an initial step towards creating a universal dataset for vibration-based spectrogram analysis for all machinery. The initial framework includes a collection of bearing vibration signals from various publicly available datasets. To demonstrate the advantages of this framework, experiments were conducted using a deep learning architecture, showing improvements in model performance when pre-trained on bearing vibration data and fine-tuned on a smaller, domain-specific dataset. These findings highlight the potential to parallel the success of ImageNet in visual computing but for vibration analysis. For future work, this research will include a broader range of vibration signals from multiple types of machinery, emphasizing spectrogram-based representations of the data. Each sample will be labeled according to machinery type, operational status, and the presence or type of faults, ensuring its utility for supervised and unsupervised learning tasks. Additionally, a framework for data preprocessing, feature extraction, and model training specific to vibration data will be developed. This framework will standardize methodologies across the research community, allowing for collaboration and accelerating progress in predictive maintenance, structural health monitoring, and related fields. By mirroring the success of ImageNet in visual computing, this dataset has the potential to improve the development of intelligent systems in industrial applications.

In the current environment, psychological issues are prevalent and widespread, with social media serving as a key outlet for individuals to share their feelings. This results in the generation of vast quantities of data daily, where negative emotions have the potential to precipitate crisis situations. There is a recognized need for models capable of efficient analysis. While pre-trained language models have demonstrated their effectiveness broadly, there's a noticeable gap in pre-trained models tailored for specialized domains like psychology. To address this, we have collected a huge dataset from Chinese social media platforms and enriched it with publicly available datasets to create a comprehensive database encompassing 3.36 million text entries. To enhance the model's applicability to psychological text analysis, we integrated psychological lexicons into the pre-training masking mechanism. Building on an existing Chinese language model, we performed adaptive training to develop a model specialized for the psychological domain. We assessed our model's effectiveness across four public benchmarks, where it not only surpassed the performance of standard pre-trained models but also showed a inclination for making psychologically relevant predictions. Due to concerns regarding data privacy, the dataset will not be made publicly available. However, we have made the pre-trained models and codes publicly accessible to the community via: https://github.com/zwzzzQAQ/Chinese-MentalBERT.

Electronic Health Records (EHRs) contain rich yet complex information, and their automated analysis is critical for clinical decision-making. Despite recent advances of large language models (LLMs) in clinical workflows, their ability to analyze EHRs remains limited due to narrow task coverage and lack of EHR-oriented reasoning capabilities. This paper aims to bridge the gap, specifically, we present EHR-Ins, a large-scale, comprehensive EHR reasoning instruction dataset, comprising 300k high-quality reasoning cases and 4M non-reasoning cases across 42 distinct EHR tasks. Its core innovation is a thinking-graph-driven framework that enables to generate high-quality reasoning data at scale. Based on it, we develop EHR-R1, a series of reasoning-enhanced LLMs with up to 72B parameters tailored for EHR analysis. Through a multi-stage training paradigm, including domain adaptation, reasoning enhancement, and reinforcement learning, EHR-R1 systematically acquires domain knowledge and diverse reasoning capabilities, enabling accurate and robust EHR analysis. Lastly, we introduce EHR-Bench, a new benchmark curated from MIMIC-IV, spanning 42 tasks, to comprehensively assess reasoning and prediction across EHR scenarios. In experiments, we show that the resulting EHR-R1 consistently outperforms state-of-the-art commercial and open-source LLMs (including DeepSeek-V3 and GPT-4o), surpassing GPT-4o by over 30 points on MIMIC-Bench and achieving a 10\% higher zero-shot AUROC on EHRSHOT. Collectively, EHR-Ins, EHR-R1, and EHR-Bench have significantly advanced the development for more reliable and clinically relevant EHR analysis.

Large-scale clinical databases offer opportunities for medical research, but their complexity creates barriers to effective use. The Medical Information Mart for Intensive Care (MIMIC-IV), one of the world's largest open-source electronic health record databases, traditionally requires both SQL proficiency and clinical domain expertise. We introduce M3, a system that enables natural language querying of MIMIC-IV data through the Model Context Protocol. With a single command, M3 retrieves MIMIC-IV from PhysioNet, launches a local SQLite instance or connects to hosted BigQuery, and allows researchers to pose clinical questions in plain English. We evaluated M3 using one hundred questions from the EHRSQL 2024 benchmark with two language models: the proprietary Claude Sonnet 4 achieved 94% accuracy, while the open-source gpt-oss-20B (deployable locally on consumer hardware) achieved 93% accuracy. Both models translate natural language into SQL, execute queries against MIMIC-IV, and return structured results alongside the underlying query for verification. Error analysis revealed that most failures stemmed from complex temporal reasoning or ambiguous question phrasing rather than fundamental architectural limitations. The comparable performance of a smaller open-source model demonstrates that privacy-preserving local deployment is viable for sensitive clinical data analysis. M3 lowers technical barriers to critical care data analysis while maintaining security through OAuth2 authentication, query validation, and comprehensive audit logging.

AI powered health chatbot applications are increasingly utilized for personalized healthcare services, yet they pose significant challenges related to user data security and privacy. This study evaluates the effectiveness of automated methods, specifically BART and Gemini GenAI, in identifying security privacy related (SPR) concerns within these applications' user reviews, benchmarking their performance against manual qualitative analysis. Our results indicate that while Gemini's performance in SPR classification is comparable to manual labeling, both automated methods have limitations, including the misclassification of unrelated issues. Qualitative analysis revealed critical user concerns, such as data collection practices, data misuse, and insufficient transparency and consent mechanisms. This research enhances the understanding of the relationship between user trust, privacy, and emerging mobile AI health chatbot technologies, offering actionable insights for improving security and privacy practices in AI driven health chatbots. Although exploratory, our findings highlight the necessity for rigorous audits and transparent communication strategies, providing valuable guidance for app developers and vendors in addressing user security and privacy concerns.

The rapid evolution of artificial intelligence (AI), together with the increased availability of social media and news for epidemiological surveillance, are marking a pivotal moment in epidemiology and public health research. Leveraging the power of generative AI, we use an ensemble approach which incorporates multiple Large Language Models (LLMs) to extract valuable actionable epidemiological information from the World Health Organization (WHO) Disease Outbreak News (DONs). DONs is a collection of regular reports on global outbreaks curated by the WHO and the adopted decision-making processes to respond to them. The extracted information is made available in a daily-updated dataset and a knowledge graph, referred to as eKG, derived to provide a nuanced representation of the public health domain knowledge. We provide an overview of this new dataset and describe the structure of eKG, along with the services and tools used to access and utilize the data that we are building on top. These innovative data resources open altogether new opportunities for epidemiological research, and the analysis and surveillance of disease outbreaks.

The COVID-19 pandemic has affected all aspects of society, not only bringing health hazards, but also posing challenges to public order, governments and mental health. Moreover, it is the first one in history in which people from around the world uses social media to massively express their thoughts and concerns. This study aims at examining the stages of crisis response and recovery as a sociological problem by operationalizing a well-known model of crisis stages in terms of a psycho-linguistic analysis. Based on a large collection of Twitter data spanning from March to August 2020 in Argentina, we present a thematic analysis on the differences in language used in social media posts, and look at indicators that reveal the different stages of a crisis and the country response thereof. The analysis was combined with a study of the temporal prevalence of mental health conversations across the time span. Beyond the Argentinian case-study, the proposed approach and analyses can be applied to any public large-scale data. This approach can provide insights for the design of public health politics oriented to monitor and eventually intervene during the different stages of a crisis, and thus improve the adverse mental health effects on the population.

We present PhysioLLM, an interactive system that leverages large language models (LLMs) to provide personalized health understanding and exploration by integrating physiological data from wearables with contextual information. Unlike commercial health apps for wearables, our system offers a comprehensive statistical analysis component that discovers correlations and trends in user data, allowing users to ask questions in natural language and receive generated personalized insights, and guides them to develop actionable goals. As a case study, we focus on improving sleep quality, given its measurability through physiological data and its importance to general well-being. Through a user study with 24 Fitbit watch users, we demonstrate that PhysioLLM outperforms both the Fitbit App alone and a generic LLM chatbot in facilitating a deeper, personalized understanding of health data and supporting actionable steps toward personal health goals.

Scientific discovery in digital health requires converting continuous physiological signals from wearable devices into clinically actionable biomarkers. We introduce CoDaS (AI Co-Data-Scientist), a multi-agent system that structures biomarker discovery as an iterative process combining hypothesis generation, statistical analysis, adversarial validation, and literature-grounded reasoning with human oversight using large-scale wearable datasets. Across three cohorts totaling 9,279 participant-observations, CoDaS identified 41 candidate digital biomarkers for mental health and 25 for metabolic outcomes, each subjected to an internal validation battery spanning replication, stability, robustness, and discriminative power. Across two independent depression cohorts, CoDaS surfaced circadian instability-related features in both datasets, reflected in sleep duration variability (DWB, ρ= 0.252, p < 0.001) and sleep onset variability (GLOBEM, ρ= 0.126, p < 0.001). In a metabolic cohort, CoDaS derived a cardiovascular fitness index (steps/resting heart rate; ρ= -0.374, p < 0.001), and recovered established clinical associations, including the hepatic function ratio (AST/ALT; ρ= -0.375, p < 0.001), a known correlate of insulin resistance. Incorporating CoDaS-derived features alongside demographic variables led to modest but consistent improvements in predictive performance, with cross-validated ΔR^2 increases of 0.040 for depression and 0.021 for insulin resistance. These findings suggest that CoDaS enables systematic and traceable hypothesis generation and prioritization for biomarker discovery from large-scale wearable data.

For the early identification, diagnosis, and treatment of mental health illnesses, the integration of deep learning (DL) and machine learning (ML) has started playing a significant role. By evaluating complex data from imaging, genetics, and behavioral assessments, these technologies have the potential to significantly improve clinical outcomes. However, they also present unique challenges related to data integration and ethical issues. This survey reviews the development of ML and DL methods for the early diagnosis and treatment of mental health issues. It examines a range of applications, with a particular emphasis on behavioral assessments, genetic and biomarker analysis, and medical imaging for diagnosing diseases like depression, bipolar disorder, and schizophrenia. Predictive modeling for illness progression is further discussed, focusing on the role of risk prediction models and longitudinal studies. Key findings highlight how ML and DL can improve diagnostic accuracy and treatment outcomes while addressing methodological inconsistencies, data integration challenges, and ethical concerns. The study emphasizes the importance of building real-time monitoring systems for individualized treatment, enhancing data fusion techniques, and fostering interdisciplinary collaboration. Future research should focus on overcoming these obstacles to ensure the valuable and ethical application of ML and DL in mental health services.

Background: Natural Language Processing (NLP) is widely used to extract clinical insights from Electronic Health Records (EHRs). However, the lack of annotated data, automated tools, and other challenges hinder the full utilisation of NLP for EHRs. Various Machine Learning (ML), Deep Learning (DL) and NLP techniques are studied and compared to understand the limitations and opportunities in this space comprehensively. Methodology: After screening 261 articles from 11 databases, we included 127 papers for full-text review covering seven categories of articles: 1) medical note classification, 2) clinical entity recognition, 3) text summarisation, 4) deep learning (DL) and transfer learning architecture, 5) information extraction, 6) Medical language translation and 7) other NLP applications. This study follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Result and Discussion: EHR was the most commonly used data type among the selected articles, and the datasets were primarily unstructured. Various ML and DL methods were used, with prediction or classification being the most common application of ML or DL. The most common use cases were: the International Classification of Diseases, Ninth Revision (ICD-9) classification, clinical note analysis, and named entity recognition (NER) for clinical descriptions and research on psychiatric disorders. Conclusion: We find that the adopted ML models were not adequately assessed. In addition, the data imbalance problem is quite important, yet we must find techniques to address this underlining problem. Future studies should address key limitations in studies, primarily identifying Lupus Nephritis, Suicide Attempts, perinatal self-harmed and ICD-9 classification.

Medical vision-and-language models (MVLMs) have attracted substantial interest due to their capability to offer a natural language interface for interpreting complex medical data. Their applications are versatile and have the potential to improve diagnostic accuracy and decision-making for individual patients while also contributing to enhanced public health monitoring, disease surveillance, and policy-making through more efficient analysis of large data sets. MVLMS integrate natural language processing with medical images to enable a more comprehensive and contextual understanding of medical images alongside their corresponding textual information. Unlike general vision-and-language models trained on diverse, non-specialized datasets, MVLMs are purpose-built for the medical domain, automatically extracting and interpreting critical information from medical images and textual reports to support clinical decision-making. Popular clinical applications of MVLMs include automated medical report generation, medical visual question answering, medical multimodal segmentation, diagnosis and prognosis and medical image-text retrieval. Here, we provide a comprehensive overview of MVLMs and the various medical tasks to which they have been applied. We conduct a detailed analysis of various vision-and-language model architectures, focusing on their distinct strategies for cross-modal integration/exploitation of medical visual and textual features. We also examine the datasets used for these tasks and compare the performance of different models based on standardized evaluation metrics. Furthermore, we highlight potential challenges and summarize future research trends and directions. The full collection of papers and codes is available at: https://github.com/YtongXie/Medical-Vision-and-Language-Tasks-and-Methodologies-A-Survey.

Electronic Health Records (EHRs) are pivotal in clinical practices, yet their retrieval remains a challenge mainly due to semantic gap issues. Recent advancements in dense retrieval offer promising solutions but existing models, both general-domain and biomedical-domain, fall short due to insufficient medical knowledge or mismatched training corpora. This paper introduces DR.EHR, a series of dense retrieval models specifically tailored for EHR retrieval. We propose a two-stage training pipeline utilizing MIMIC-IV discharge summaries to address the need for extensive medical knowledge and large-scale training data. The first stage involves medical entity extraction and knowledge injection from a biomedical knowledge graph, while the second stage employs large language models to generate diverse training data. We train two variants of DR.EHR, with 110M and 7B parameters, respectively. Evaluated on the CliniQ benchmark, our models significantly outperforms all existing dense retrievers, achieving state-of-the-art results. Detailed analyses confirm our models' superiority across various match and query types, particularly in challenging semantic matches like implication and abbreviation. Ablation studies validate the effectiveness of each pipeline component, and supplementary experiments on EHR QA datasets demonstrate the models' generalizability on natural language questions, including complex ones with multiple entities. This work significantly advances EHR retrieval, offering a robust solution for clinical applications.

Students' mental well-being is vital for academic success, with activities such as studying, socializing, and sleeping playing a role. Current mobile sensing data highlight this intricate link using statistical and machine learning analyses. We propose a novel LLM agent-based simulation framework to model student activities and mental health using the StudentLife Dataset. Each LLM agent was initialized with personality questionnaires and guided by smartphone sensing data throughout the simulated semester. These agents predict individual behaviors, provide self-reported mental health data via ecological momentary assessments (EMAs), and complete follow-up personality questionnaires. To ensure accuracy, we investigated various prompting techniques, memory systems, and activity-based mental state management strategies that dynamically update an agent's mental state based on their daily activities. This simulation goes beyond simply replicating existing data. This allows us to explore new scenarios that are not present in the original dataset, such as peer influence through agent-to-agent interactions and the impact of social media. Furthermore, we can conduct intervention studies by manipulating activity patterns via sensing signals and personality traits using questionnaire responses. This provides valuable insights into the behavioral changes that could enhance student well-being. The framework also facilitates hypothetical interviews with LLM agents, offering deeper insights into their mental health. This study showcases the power of LLM-driven behavioral modeling with sensing data, opening new avenues for understanding and supporting student mental health.

Single-cell RNA sequencing (scRNA-seq) data are often confounded by technical or biological batch effects. Existing deep learning models mitigate these effects but often discard batch-specific information, potentially losing valuable biological insights. We propose a Mixed Effects Deep Learning (MEDL) autoencoder framework that separately models batch-invariant (fixed effects) and batch-specific (random effects) components. By decoupling batch-invariant biological states from batch variations, our framework integrates both into predictive models. Our approach also generates 2D visualizations of how the same cell appears across batches, enhancing interpretability. Retaining both fixed and random effect latent spaces improves classification accuracy. We applied our framework to three datasets spanning the cardiovascular system (Healthy Heart), Autism Spectrum Disorder (ASD), and Acute Myeloid Leukemia (AML). With 147 batches in the Healthy Heart dataset, far exceeding typical numbers, we tested our framework's ability to handle many batches. In the ASD dataset, our approach captured donor heterogeneity between autistic and healthy individuals. In the AML dataset, it distinguished donor heterogeneity despite missing cell types and diseased donors exhibiting both healthy and malignant cells. These results highlight our framework's ability to characterize fixed and random effects, enhance batch effect visualization, and improve prediction accuracy across diverse datasets.

Synthetic data generation has the potential to impact applications and domains with scarce data. However, before such data is used for sensitive tasks such as mental health, we need an understanding of how different demographics are represented in it. In our paper, we analyze the potential of producing synthetic data using GPT-3 by exploring the various stressors it attributes to different race and gender combinations, to provide insight for future researchers looking into using LLMs for data generation. Using GPT-3, we develop HEADROOM, a synthetic dataset of 3,120 posts about depression-triggering stressors, by controlling for race, gender, and time frame (before and after COVID-19). Using this dataset, we conduct semantic and lexical analyses to (1) identify the predominant stressors for each demographic group; and (2) compare our synthetic data to a human-generated dataset. We present the procedures to generate queries to develop depression data using GPT-3, and conduct analyzes to uncover the types of stressors it assigns to demographic groups, which could be used to test the limitations of LLMs for synthetic data generation for depression data. Our findings show that synthetic data mimics some of the human-generated data distribution for the predominant depression stressors across diverse demographics.

Speech pathology has impacts on communication abilities and quality of life. While deep learning-based models have shown potential in diagnosing these disorders, the use of sensitive data raises critical privacy concerns. Although differential privacy (DP) has been explored in the medical imaging domain, its application in pathological speech analysis remains largely unexplored despite the equally critical privacy concerns. To the best of our knowledge, this study is the first to investigate DP's impact on pathological speech data, focusing on the trade-offs between privacy, diagnostic accuracy, and fairness. Using a large, real-world dataset of 200 hours of recordings from 2,839 German-speaking participants, we observed a maximum accuracy reduction of 3.85% when training with DP with high privacy levels. To highlight real-world privacy risks, we demonstrated the vulnerability of non-private models to gradient inversion attacks, reconstructing identifiable speech samples and showcasing DP's effectiveness in mitigating these risks. To explore the potential generalizability across languages and disorders, we validated our approach on a dataset of Spanish-speaking Parkinson's disease patients, leveraging pretrained models from healthy English-speaking datasets, and demonstrated that careful pretraining on large-scale task-specific datasets can maintain favorable accuracy under DP constraints. A comprehensive fairness analysis revealed minimal gender bias at reasonable privacy levels but underscored the need for addressing age-related disparities. Our results establish that DP can balance privacy and utility in speech disorder detection, while highlighting unique challenges in privacy-fairness trade-offs for speech data. This provides a foundation for refining DP methodologies and improving fairness across diverse patient groups in real-world deployments.

Pre-trained code representation models such as CodeBERT have demonstrated superior performance in a variety of software engineering tasks, yet they are often heavy in complexity, quadratically with the length of the input sequence. Our empirical analysis of CodeBERT's attention reveals that CodeBERT pays more attention to certain types of tokens and statements such as keywords and data-relevant statements. Based on these findings, we propose DietCode, which aims at lightweight leverage of large pre-trained models for source code. DietCode simplifies the input program of CodeBERT with three strategies, namely, word dropout, frequency filtering, and an attention-based strategy which selects statements and tokens that receive the most attention weights during pre-training. Hence, it gives a substantial reduction in the computational cost without hampering the model performance. Experimental results on two downstream tasks show that DietCodeBERT provides comparable results to CodeBERT with 40% less computational cost in fine-tuning and testing.

Millions of users share their experiences on social media sites, such as Twitter, which in turn generate valuable data for public health monitoring, digital epidemiology, and other analyses of population health at global scale. The first, critical, task for these applications is classifying whether a personal health event was mentioned, which we call the (PHM) problem. This task is challenging for many reasons, including typically short length of social media posts, inventive spelling and lexicons, and figurative language, including hyperbole using diseases like "heart attack" or "cancer" for emphasis, and not as a health self-report. This problem is even more challenging for rarely reported, or frequent but ambiguously expressed conditions, such as "stroke". To address this problem, we propose a general, robust method for detecting PHMs in social media, which we call WESPAD, that combines lexical, syntactic, word embedding-based, and context-based features. WESPAD is able to generalize from few examples by automatically distorting the word embedding space to most effectively detect the true health mentions. Unlike previously proposed state-of-the-art supervised and deep-learning techniques, WESPAD requires relatively little training data, which makes it possible to adapt, with minimal effort, to each new disease and condition. We evaluate WESPAD on both an established publicly available Flu detection benchmark, and on a new dataset that we have constructed with mentions of multiple health conditions. Our experiments show that WESPAD outperforms the baselines and state-of-the-art methods, especially in cases when the number and proportion of true health mentions in the training data is small.

With the increasing legalization of medical and recreational use of cannabis, more research is needed to understand the association between depression and consumer behavior related to cannabis consumption. Big social media data has potential to provide deeper insights about these associations to public health analysts. In this interdisciplinary study, we demonstrate the value of incorporating domain-specific knowledge in the learning process to identify the relationships between cannabis use and depression. We develop an end-to-end knowledge infused deep learning framework (Gated-K-BERT) that leverages the pre-trained BERT language representation model and domain-specific declarative knowledge source (Drug Abuse Ontology (DAO)) to jointly extract entities and their relationship using gated fusion sharing mechanism. Our model is further tailored to provide more focus to the entities mention in the sentence through entity-position aware attention layer, where ontology is used to locate the target entities position. Experimental results show that inclusion of the knowledge-aware attentive representation in association with BERT can extract the cannabis-depression relationship with better coverage in comparison to the state-of-the-art relation extractor.

The growing popularity of wearable sensors has generated large quantities of temporal physiological and activity data. Ability to analyze this data offers new opportunities for real-time health monitoring and forecasting. However, temporal physiological data presents many analytic challenges: the data is noisy, contains many missing values, and each series has a different length. Most methods proposed for time series analysis and classification do not handle datasets with these characteristics nor do they offer interpretability and explainability, a critical requirement in the health domain. We propose an unsupervised method for learning representations of time series based on common patterns identified within them. The patterns are, interpretable, variable in length, and extracted using Byte Pair Encoding compression technique. In this way the method can capture both long-term and short-term dependencies present in the data. We show that this method applies to both univariate and multivariate time series and beats state-of-the-art approaches on a real world dataset collected from wearable sensors.

Machine learning (ML) approaches have demonstrated promising results in a wide range of healthcare applications. Data plays a crucial role in developing ML-based healthcare systems that directly affect people's lives. Many of the ethical issues surrounding the use of ML in healthcare stem from structural inequalities underlying the way we collect, use, and handle data. Developing guidelines to improve documentation practices regarding the creation, use, and maintenance of ML healthcare datasets is therefore of critical importance. In this work, we introduce Healthsheet, a contextualized adaptation of the original datasheet questionnaire ~gebru2018datasheets for health-specific applications. Through a series of semi-structured interviews, we adapt the datasheets for healthcare data documentation. As part of the Healthsheet development process and to understand the obstacles researchers face in creating datasheets, we worked with three publicly-available healthcare datasets as our case studies, each with different types of structured data: Electronic health Records (EHR), clinical trial study data, and smartphone-based performance outcome measures. Our findings from the interviewee study and case studies show 1) that datasheets should be contextualized for healthcare, 2) that despite incentives to adopt accountability practices such as datasheets, there is a lack of consistency in the broader use of these practices 3) how the ML for health community views datasheets and particularly Healthsheets as diagnostic tool to surface the limitations and strength of datasets and 4) the relative importance of different fields in the datasheet to healthcare concerns.

The opioid crisis represents a significant moment in public health that reveals systemic shortcomings across regulatory systems, healthcare practices, corporate governance, and public policy. Analyzing how these interconnected systems simultaneously failed to protect public health requires innovative analytic approaches for exploring the vast amounts of data and documents disclosed in the UCSF-JHU Opioid Industry Documents Archive (OIDA). The complexity, multimodal nature, and specialized characteristics of these healthcare-related legal and corporate documents necessitate more advanced methods and models tailored to specific data types and detailed annotations, ensuring the precision and professionalism in the analysis. In this paper, we tackle this challenge by organizing the original dataset according to document attributes and constructing a benchmark with 400k training documents and 10k for testing. From each document, we extract rich multimodal information-including textual content, visual elements, and layout structures-to capture a comprehensive range of features. Using multiple AI models, we then generate a large-scale dataset comprising 360k training QA pairs and 10k testing QA pairs. Building on this foundation, we develop domain-specific multimodal Large Language Models (LLMs) and explore the impact of multimodal inputs on task performance. To further enhance response accuracy, we incorporate historical QA pairs as contextual grounding for answering current queries. Additionally, we incorporate page references within the answers and introduce an importance-based page classifier, further improving the precision and relevance of the information provided. Preliminary results indicate the improvements with our AI assistant in document information extraction and question-answering tasks. The dataset is available at: https://huggingface.co/datasets/opioidarchive/oida-qa

Clinical trials disruption has always represented a non negligible part of the ending of interventional studies. While the SARS-CoV-2 (COVID-19) pandemic has led to an impressive and unprecedented initiation of clinical research, it has also led to considerable disruption of clinical trials in other disease areas, with around 80% of non-COVID-19 trials stopped or interrupted during the pandemic. In many cases the disrupted trials will not have the planned statistical power necessary to yield interpretable results. This paper describes methods to compensate for the information loss arising from trial disruptions by incorporating additional information available from auxiliary data sources. The methods described include the use of auxiliary data on baseline and early outcome data available from the trial itself and frequentist and Bayesian approaches for the incorporation of information from external data sources. The methods are illustrated by application to the analysis of artificial data based on the Primary care pediatrics Learning Activity Nutrition (PLAN) study, a clinical trial assessing a diet and exercise intervention for overweight children, that was affected by the COVID-19 pandemic. We show how all of the methods proposed lead to an increase in precision relative to use of complete case data only.

Objective: To transform heterogeneous clinical data from electronic health records into clinically meaningful constructed features using data driven method that rely, in part, on temporal relations among data. Materials and Methods: The clinically meaningful representations of medical concepts and patients are the key for health analytic applications. Most of existing approaches directly construct features mapped to raw data (e.g., ICD or CPT codes), or utilize some ontology mapping such as SNOMED codes. However, none of the existing approaches leverage EHR data directly for learning such concept representation. We propose a new way to represent heterogeneous medical concepts (e.g., diagnoses, medications and procedures) based on co-occurrence patterns in longitudinal electronic health records. The intuition behind the method is to map medical concepts that are co-occuring closely in time to similar concept vectors so that their distance will be small. We also derive a simple method to construct patient vectors from the related medical concept vectors. Results: For qualitative evaluation, we study similar medical concepts across diagnosis, medication and procedure. In quantitative evaluation, our proposed representation significantly improves the predictive modeling performance for onset of heart failure (HF), where classification methods (e.g. logistic regression, neural network, support vector machine and K-nearest neighbors) achieve up to 23% improvement in area under the ROC curve (AUC) using this proposed representation. Conclusion: We proposed an effective method for patient and medical concept representation learning. The resulting representation can map relevant concepts together and also improves predictive modeling performance.

Gait disorders are commonly observed in older adults, who frequently experience various issues related to walking. Additionally, researchers and clinicians extensively investigate mobility related to gait in typically and atypically developing children, athletes, and individuals with orthopedic and neurological disorders. Effective gait analysis enables the understanding of the causal mechanisms of mobility and balance control of patients, the development of tailored treatment plans to improve mobility, the reduction of fall risk, and the tracking of rehabilitation progress. However, analyzing gait data is a complex task due to the multivariate nature of the data, the large volume of information to be interpreted, and the technical skills required. Existing tools for gait analysis are often limited to specific patient groups (e.g., cerebral palsy), only handle a specific subset of tasks in the entire workflow, and are not openly accessible. To address these shortcomings, we conducted a requirements assessment with gait practitioners (e.g., researchers, clinicians) via surveys and identified key components of the workflow, including (1) data processing and (2) data analysis and visualization. Based on the findings, we designed VIGMA, an open-access visual analytics framework integrated with computational notebooks and a Python library, to meet the identified requirements. Notably, the framework supports analytical capabilities for assessing disease progression and for comparing multiple patient groups. We validated the framework through usage scenarios with experts specializing in gait and mobility rehabilitation. VIGMA is available at https://github.com/komar41/VIGMA.

The World Health Organization added Disease X to their shortlist of blueprint priority diseases to represent a hypothetical, unknown pathogen that could cause a future epidemic. During different virus outbreaks of the past, such as COVID-19, Influenza, Lyme Disease, and Zika virus, researchers from various disciplines utilized Google Trends to mine multimodal components of web behavior to study, investigate, and analyze the global awareness, preparedness, and response associated with these respective virus outbreaks. As the world prepares for Disease X, a dataset on web behavior related to Disease X would be crucial to contribute towards the timely advancement of research in this field. Furthermore, none of the prior works in this field have focused on the development of a dataset to compile relevant web behavior data, which would help to prepare for Disease X. To address these research challenges, this work presents a dataset of web behavior related to Disease X, which emerged from different geographic regions of the world, between February 2018 and August 2023. Specifically, this dataset presents the search interests related to Disease X from 94 geographic regions. The dataset was developed by collecting data using Google Trends. The relevant search interests for all these regions for each month in this time range are available in this dataset. This paper also discusses the compliance of this dataset with the FAIR principles of scientific data management. Finally, an analysis of this dataset is presented to uphold the applicability, relevance, and usefulness of this dataset for the investigation of different research questions in the interrelated fields of Big Data, Data Mining, Healthcare, Epidemiology, and Data Analysis with a specific focus on Disease X.

Data scarcity is a common obstacle in medical research due to the high costs associated with data collection and the complexity of gaining access to and utilizing data. Synthesizing health data may provide an efficient and cost-effective solution to this shortage, enabling researchers to explore distributions and populations that are not represented in existing observations or difficult to access due to privacy considerations. To that end, we have developed a multi-task self-attention model that produces realistic wearable activity data. We examine the characteristics of the generated data and quantify its similarity to genuine samples with both quantitative and qualitative approaches.

Advancements in artificial intelligence, machine learning, and deep learning have catalyzed the transformation of big data analytics and management into pivotal domains for research and application. This work explores the theoretical foundations, methodological advancements, and practical implementations of these technologies, emphasizing their role in uncovering actionable insights from massive, high-dimensional datasets. The study presents a systematic overview of data preprocessing techniques, including data cleaning, normalization, integration, and dimensionality reduction, to prepare raw data for analysis. Core analytics methodologies such as classification, clustering, regression, and anomaly detection are examined, with a focus on algorithmic innovation and scalability. Furthermore, the text delves into state-of-the-art frameworks for data mining and predictive modeling, highlighting the role of neural networks, support vector machines, and ensemble methods in tackling complex analytical challenges. Special emphasis is placed on the convergence of big data with distributed computing paradigms, including cloud and edge computing, to address challenges in storage, computation, and real-time analytics. The integration of ethical considerations, including data privacy and compliance with global standards, ensures a holistic perspective on data management. Practical applications across healthcare, finance, marketing, and policy-making illustrate the real-world impact of these technologies. Through comprehensive case studies and Python-based implementations, this work equips researchers, practitioners, and data enthusiasts with the tools to navigate the complexities of modern data analytics. It bridges the gap between theory and practice, fostering the development of innovative solutions for managing and leveraging data in the era of artificial intelligence.

Following the global COVID-19 pandemic, the number of scientific papers studying the virus has grown massively, leading to increased interest in automated literate review. We present a clinical text mining system that improves on previous efforts in three ways. First, it can recognize over 100 different entity types including social determinants of health, anatomy, risk factors, and adverse events in addition to other commonly used clinical and biomedical entities. Second, the text processing pipeline includes assertion status detection, to distinguish between clinical facts that are present, absent, conditional, or about someone other than the patient. Third, the deep learning models used are more accurate than previously available, leveraging an integrated pipeline of state-of-the-art pretrained named entity recognition models, and improving on the previous best performing benchmarks for assertion status detection. We illustrate extracting trends and insights, e.g. most frequent disorders and symptoms, and most common vital signs and EKG findings, from the COVID-19 Open Research Dataset (CORD-19). The system is built using the Spark NLP library which natively supports scaling to use distributed clusters, leveraging GPUs, configurable and reusable NLP pipelines, healthcare specific embeddings, and the ability to train models to support new entity types or human languages with no code changes.

People are increasingly seeking healthcare information from large language models (LLMs) via interactive chatbots, yet the nature and inherent risks of these conversations remain largely unexplored. In this paper, we filter large-scale conversational AI datasets to achieve HealthChat-11K, a curated dataset of 11K real-world conversations composed of 25K user messages. We use HealthChat-11K and a clinician-driven taxonomy for how users interact with LLMs when seeking healthcare information in order to systematically study user interactions across 21 distinct health specialties. Our analysis reveals insights into the nature of how and why users seek health information, such as common interactions, instances of incomplete context, affective behaviors, and interactions (e.g., leading questions) that can induce sycophancy, underscoring the need for improvements in the healthcare support capabilities of LLMs deployed as conversational AI. Code and artifacts to retrieve our analyses and combine them into a curated dataset can be found here: https://github.com/yahskapar/HealthChat

Social and behavioral determinants of health (SDOH) play a significant role in shaping health outcomes, and extracting these determinants from clinical notes is a first step to help healthcare providers systematically identify opportunities to provide appropriate care and address disparities. Progress on using NLP methods for this task has been hindered by the lack of high-quality publicly available labeled data, largely due to the privacy and regulatory constraints on the use of real patients' information. This paper introduces a new dataset, SDOH-NLI, that is based on publicly available notes and which we release publicly. We formulate SDOH extraction as a natural language inference (NLI) task, and provide binary textual entailment labels obtained from human raters for a cross product of a set of social history snippets as premises and SDOH factors as hypotheses. Our dataset differs from standard NLI benchmarks in that our premises and hypotheses are obtained independently. We evaluate both "off-the-shelf" entailment models as well as models fine-tuned on our data, and highlight the ways in which our dataset appears more challenging than commonly used NLI datasets.

Health is a fundamental pillar of human wellness, and the rapid advancements in large language models (LLMs) have driven the development of a new generation of health agents. However, the application of health agents to fulfill the diverse needs of individuals in daily non-clinical settings is underexplored. In this work, we aim to build a comprehensive personal health agent that is able to reason about multimodal data from everyday consumer wellness devices and common personal health records, and provide personalized health recommendations. To understand end-users' needs when interacting with such an assistant, we conducted an in-depth analysis of web search and health forum queries, alongside qualitative insights from users and health experts gathered through a user-centered design process. Based on these findings, we identified three major categories of consumer health needs, each of which is supported by a specialist sub-agent: (1) a data science agent that analyzes personal time-series wearable and health record data, (2) a health domain expert agent that integrates users' health and contextual data to generate accurate, personalized insights, and (3) a health coach agent that synthesizes data insights, guiding users using a specified psychological strategy and tracking users' progress. Furthermore, we propose and develop the Personal Health Agent (PHA), a multi-agent framework that enables dynamic, personalized interactions to address individual health needs. To evaluate each sub-agent and the multi-agent system, we conducted automated and human evaluations across 10 benchmark tasks, involving more than 7,000 annotations and 1,100 hours of effort from health experts and end-users. Our work represents the most comprehensive evaluation of a health agent to date and establishes a strong foundation towards the futuristic vision of a personal health agent accessible to everyone.

As people increasingly prioritize their health, the speed and breadth of health information dissemination on the internet have also grown. At the same time, the presence of false health information (health rumors) intermingled with genuine content poses a significant potential threat to public health. However, current research on Chinese health rumors still lacks a large-scale, public, and open-source dataset of health rumor information, as well as effective and reliable rumor detection methods. This paper addresses this gap by constructing a dataset containing 1.12 million health-related rumors (HealthRCN) through web scraping of common health-related questions and a series of data processing steps. HealthRCN is the largest known dataset of Chinese health information rumors to date. Based on this dataset, we propose retrieval-augmented large language models for Chinese health rumor detection and explainability (HRDE). This model leverages retrieved relevant information to accurately determine whether the input health information is a rumor and provides explanatory responses, effectively aiding users in verifying the authenticity of health information. In evaluation experiments, we compared multiple models and found that HRDE outperformed them all, including GPT-4-1106-Preview, in rumor detection accuracy and answer quality. HRDE achieved an average accuracy of 91.04% and an F1 score of 91.58%.

The rise of chronic diseases and pandemics like COVID-19 has emphasized the need for effective patient data processing while ensuring privacy through anonymization and de-identification of protected health information (PHI). Anonymized data facilitates research without compromising patient confidentiality. This paper introduces expert small AI models developed using the LLM-in-the-loop methodology to meet the demand for domain-specific de-identification NER models. These models overcome the privacy risks associated with large language models (LLMs) used via APIs by eliminating the need to transmit or store sensitive data. More importantly, they consistently outperform LLMs in de-identification tasks, offering superior performance and reliability. Our de-identification NER models, developed in eight languages (English, German, Italian, French, Romanian, Turkish, Spanish, and Arabic) achieved f1-micro score averages of 0.966, 0.975, 0.976, 0.970, 0.964, 0.974, 0.978, and 0.953 respectively. These results establish them as the most accurate healthcare anonymization solutions, surpassing existing small models and even general-purpose LLMs such as GPT-4o. While Part-1 of this series introduced the LLM-in-the-loop methodology for bio-medical document translation, this second paper showcases its success in developing cost-effective expert small NER models in de-identification tasks. Our findings lay the groundwork for future healthcare AI innovations, including biomedical entity and relation extraction, demonstrating the value of specialized models for domain-specific challenges.

A crucial step within secondary analysis of electronic health records (EHRs) is to identify the patient cohort under investigation. While EHRs contain medical billing codes that aim to represent the conditions and treatments patients may have, much of the information is only present in the patient notes. Therefore, it is critical to develop robust algorithms to infer patients' conditions and treatments from their written notes. In this paper, we introduce a dataset for patient phenotyping, a task that is defined as the identification of whether a patient has a given medical condition (also referred to as clinical indication or phenotype) based on their patient note. Nursing Progress Notes and Discharge Summaries from the Intensive Care Unit of a large tertiary care hospital were manually annotated for the presence of several high-context phenotypes relevant to treatment and risk of re-hospitalization. This dataset contains 1102 Discharge Summaries and 1000 Nursing Progress Notes. Each Discharge Summary and Progress Note has been annotated by at least two expert human annotators (one clinical researcher and one resident physician). Annotated phenotypes include treatment non-adherence, chronic pain, advanced/metastatic cancer, as well as 10 other phenotypes. This dataset can be utilized for academic and industrial research in medicine and computer science, particularly within the field of medical natural language processing.

We present a new text-to-SQL dataset for electronic health records (EHRs). The utterances were collected from 222 hospital staff members, including physicians, nurses, and insurance review and health records teams. To construct the QA dataset on structured EHR data, we conducted a poll at a university hospital and used the responses to create seed questions. We then manually linked these questions to two open-source EHR databases, MIMIC-III and eICU, and included various time expressions and held-out unanswerable questions in the dataset, which were also collected from the poll. Our dataset poses a unique set of challenges: the model needs to 1) generate SQL queries that reflect a wide range of needs in the hospital, including simple retrieval and complex operations such as calculating survival rate, 2) understand various time expressions to answer time-sensitive questions in healthcare, and 3) distinguish whether a given question is answerable or unanswerable. We believe our dataset, EHRSQL, can serve as a practical benchmark for developing and assessing QA models on structured EHR data and take a step further towards bridging the gap between text-to-SQL research and its real-life deployment in healthcare. EHRSQL is available at https://github.com/glee4810/EHRSQL.

Biomedical data is inherently multimodal, consisting of electronic health records, medical imaging, digital pathology, genome sequencing, wearable sensors, and more. The application of artificial intelligence tools to these multifaceted sensing technologies has the potential to revolutionize the prognosis, diagnosis, and management of human health and disease. However, current approaches to biomedical AI typically only train and evaluate with one or a small set of medical modalities and tasks. This limitation hampers the development of comprehensive tools that can leverage the rich interconnected information across many heterogeneous biomedical sensors. To address this challenge, we present MultiMed, a benchmark designed to evaluate and enable large-scale learning across a wide spectrum of medical modalities and tasks. MultiMed consists of 2.56 million samples across ten medical modalities such as medical reports, pathology, genomics, and protein data, and is structured into eleven challenging tasks, including disease prognosis, protein structure prediction, and medical question answering. Using MultiMed, we conduct comprehensive experiments benchmarking state-of-the-art unimodal, multimodal, and multitask models. Our analysis highlights the advantages of training large-scale medical models across many related modalities and tasks. Moreover, MultiMed enables studies of generalization across related medical concepts, robustness to real-world noisy data and distribution shifts, and novel modality combinations to improve prediction performance. MultiMed will be publicly available and regularly updated and welcomes inputs from the community.

Social determinants of health (SDoH) have an important impact on patient outcomes but are incompletely collected from the electronic health records (EHR). This study researched the ability of large language models to extract SDoH from free text in EHRs, where they are most commonly documented, and explored the role of synthetic clinical text for improving the extraction of these scarcely documented, yet extremely valuable, clinical data. 800 patient notes were annotated for SDoH categories, and several transformer-based models were evaluated. The study also experimented with synthetic data generation and assessed for algorithmic bias. Our best-performing models were fine-tuned Flan-T5 XL (macro-F1 0.71) for any SDoH, and Flan-T5 XXL (macro-F1 0.70). The benefit of augmenting fine-tuning with synthetic data varied across model architecture and size, with smaller Flan-T5 models (base and large) showing the greatest improvements in performance (delta F1 +0.12 to +0.23). Model performance was similar on the in-hospital system dataset but worse on the MIMIC-III dataset. Our best-performing fine-tuned models outperformed zero- and few-shot performance of ChatGPT-family models for both tasks. These fine-tuned models were less likely than ChatGPT to change their prediction when race/ethnicity and gender descriptors were added to the text, suggesting less algorithmic bias (p<0.05). At the patient-level, our models identified 93.8% of patients with adverse SDoH, while ICD-10 codes captured 2.0%. Our method can effectively extracted SDoH information from clinic notes, performing better compare to GPT zero- and few-shot settings. These models could enhance real-world evidence on SDoH and aid in identifying patients needing social support.

The current state of adoption of well-structured electronic health records and integration of digital methods for storing medical patient data in structured formats can often considered as inferior compared to the use of traditional, unstructured text based patient data documentation. Data mining in the field of medical data analysis often needs to rely solely on processing of unstructured data to retrieve relevant data. In natural language processing (NLP), statistical models have been shown successful in various tasks like part-of-speech tagging, relation extraction (RE) and named entity recognition (NER). In this work, we present GERNERMED, the first open, neural NLP model for NER tasks dedicated to detect medical entity types in German text data. Here, we avoid the conflicting goals of protection of sensitive patient data from training data extraction and the publication of the statistical model weights by training our model on a custom dataset that was translated from publicly available datasets in foreign language by a pretrained neural machine translation model. The sample code and the statistical model is available at: https://github.com/frankkramer-lab/GERNERMED

The advent of foundation models (FMs) as an emerging suite of AI techniques has struck a wave of opportunities in computational healthcare. The interactive nature of these models, guided by pre-training data and human instructions, has ignited a data-centric AI paradigm that emphasizes better data characterization, quality, and scale. In healthcare AI, obtaining and processing high-quality clinical data records has been a longstanding challenge, ranging from data quantity, annotation, patient privacy, and ethics. In this survey, we investigate a wide range of data-centric approaches in the FM era (from model pre-training to inference) towards improving the healthcare workflow. We discuss key perspectives in AI security, assessment, and alignment with human values. Finally, we offer a promising outlook of FM-based analytics to enhance the performance of patient outcome and clinical workflow in the evolving landscape of healthcare and medicine. We provide an up-to-date list of healthcare-related foundation models and datasets at https://github.com/Yunkun-Zhang/Data-Centric-FM-Healthcare .

Medical research generates a large number of publications with the PubMed database already containing >35 million research articles. Integration of the knowledge scattered across this large body of literature could provide key insights into physiological mechanisms and disease processes leading to novel medical interventions. However, it is a great challenge for researchers to utilize this information in full since the scale and complexity of the data greatly surpasses human processing abilities. This becomes especially problematic in cases of extreme urgency like the COVID-19 pandemic. Automated text mining can help extract and connect information from the large body of medical research articles. The first step in text mining is typically the identification of specific classes of keywords (e.g., all protein or disease names), so called Named Entity Recognition (NER). Here we present an end-to-end pipeline for NER of typical entities found in medical research articles, including diseases, cells, chemicals, genes/proteins, and species. The pipeline can access and process large medical research article collections (PubMed, CORD-19) or raw text and incorporates a series of deep learning models fine-tuned on the HUNER corpora collection. In addition, the pipeline can perform dictionary-based NER related to COVID-19 and other medical topics. Users can also load their own NER models and dictionaries to include additional entities. The output consists of publication-ready ranked lists and graphs of detected entities and files containing the annotated texts. An associated script allows rapid inspection of the results for specific entities of interest. As model use cases, the pipeline was deployed on two collections of autophagy-related abstracts from PubMed and on the CORD19 dataset, a collection of 764 398 research article abstracts related to COVID-19.

Healthcare monitoring is crucial for early detection, timely intervention, and the ongoing management of health conditions, ultimately improving individuals' quality of life. Recent research shows that Large Language Models (LLMs) have demonstrated impressive performance in supporting healthcare tasks. However, existing LLM-based healthcare solutions typically rely on cloud-based systems, which raise privacy concerns and increase the risk of personal information leakage. As a result, there is growing interest in running these models locally on devices like mobile phones and wearables to protect users' privacy. Small Language Models (SLMs) are potential candidates to solve privacy and computational issues, as they are more efficient and better suited for local deployment. However, the performance of SLMs in healthcare domains has not yet been investigated. This paper examines the capability of SLMs to accurately analyze health data, such as steps, calories, sleep minutes, and other vital statistics, to assess an individual's health status. Our results show that, TinyLlama, which has 1.1 billion parameters, utilizes 4.31 GB memory, and has 0.48s latency, showing the best performance compared other four state-of-the-art (SOTA) SLMs on various healthcare applications. Our results indicate that SLMs could potentially be deployed on wearable or mobile devices for real-time health monitoring, providing a practical solution for efficient and privacy-preserving healthcare.

The COVID-19 pandemic has posed a heavy burden to the healthcare system worldwide and caused huge social disruption and economic loss. Many deep learning models have been proposed to conduct clinical predictive tasks such as mortality prediction for COVID-19 patients in intensive care units using Electronic Health Record (EHR) data. Despite their initial success in certain clinical applications, there is currently a lack of benchmarking results to achieve a fair comparison so that we can select the optimal model for clinical use. Furthermore, there is a discrepancy between the formulation of traditional prediction tasks and real-world clinical practice in intensive care. To fill these gaps, we propose two clinical prediction tasks, Outcome-specific length-of-stay prediction and Early mortality prediction for COVID-19 patients in intensive care units. The two tasks are adapted from the naive length-of-stay and mortality prediction tasks to accommodate the clinical practice for COVID-19 patients. We propose fair, detailed, open-source data-preprocessing pipelines and evaluate 17 state-of-the-art predictive models on two tasks, including 5 machine learning models, 6 basic deep learning models and 6 deep learning predictive models specifically designed for EHR data. We provide benchmarking results using data from two real-world COVID-19 EHR datasets. One dataset is publicly available without needing any inquiry and another dataset can be accessed on request. We provide fair, reproducible benchmarking results for two tasks. We deploy all experiment results and models on an online platform. We also allow clinicians and researchers to upload their data to the platform and get quick prediction results using our trained models. We hope our efforts can further facilitate deep learning and machine learning research for COVID-19 predictive modeling.

Healthcare systems continuously generate vast amounts of electronic health records (EHRs), commonly stored in the Fast Healthcare Interoperability Resources (FHIR) standard. Despite the wealth of information in these records, their complexity and volume make it difficult for users to retrieve and interpret crucial health insights. Recent advances in Large Language Models (LLMs) offer a solution, enabling semantic question answering (QA) over medical data, allowing users to interact with their health records more effectively. However, ensuring privacy and compliance requires edge and private deployments of LLMs. This paper proposes a novel approach to semantic QA over EHRs by first identifying the most relevant FHIR resources for a user query (Task1) and subsequently answering the query based on these resources (Task2). We explore the performance of privately hosted, fine-tuned LLMs, evaluating them against benchmark models such as GPT-4 and GPT-4o. Our results demonstrate that fine-tuned LLMs, while 250x smaller in size, outperform GPT-4 family models by 0.55% in F1 score on Task1 and 42% on Meteor Task in Task2. Additionally, we examine advanced aspects of LLM usage, including sequential fine-tuning, model self-evaluation (narcissistic evaluation), and the impact of training data size on performance. The models and datasets are available here: https://huggingface.co/genloop

Survival analysis, or time-to-event modelling, is a classical statistical problem that has garnered a lot of interest for its practical use in epidemiology, demographics or actuarial sciences. Recent advances on the subject from the point of view of machine learning have been concerned with precise per-individual predictions instead of population studies, driven by the rise of individualized medicine. We introduce here a conditional normalizing flow based estimate of the time-to-event density as a way to model highly flexible and individualized conditional survival distributions. We use a novel hierarchical formulation of normalizing flows to enable efficient fitting of flexible conditional distributions without overfitting and show how the normalizing flow formulation can be efficiently adapted to the censored setting. We experimentally validate the proposed approach on a synthetic dataset as well as four open medical datasets and an example of a common financial problem.

Mental health is a significant and growing public health concern. As language usage can be leveraged to obtain crucial insights into mental health conditions, there is a need for large-scale, labeled, mental health-related datasets of users who have been diagnosed with one or more of such conditions. In this paper, we investigate the creation of high-precision patterns to identify self-reported diagnoses of nine different mental health conditions, and obtain high-quality labeled data without the need for manual labelling. We introduce the SMHD (Self-reported Mental Health Diagnoses) dataset and make it available. SMHD is a novel large dataset of social media posts from users with one or multiple mental health conditions along with matched control users. We examine distinctions in users' language, as measured by linguistic and psychological variables. We further explore text classification methods to identify individuals with mental conditions through their language.

Hypertension, defined as blood pressure (BP) that is above normal, holds paramount significance in the realm of public health, as it serves as a critical precursor to various cardiovascular diseases (CVDs) and significantly contributes to elevated mortality rates worldwide. However, many existing BP measurement technologies and standards might be biased because they do not consider clinical outcomes, comorbidities, or demographic factors, making them inconclusive for diagnostic purposes. There is limited data-driven research focused on studying the variance in BP measurements across these variables. In this work, we employed GPT-35-turbo, a large language model (LLM), to automatically extract the mean and standard deviation values of BP for both males and females from a dataset comprising 25 million abstracts sourced from PubMed. 993 article abstracts met our predefined inclusion criteria (i.e., presence of references to blood pressure, units of blood pressure such as mmHg, and mention of biological sex). Based on the automatically-extracted information from these articles, we conducted an analysis of the variations of BP values across biological sex. Our results showed the viability of utilizing LLMs to study the BP variations across different demographic factors.

The timely identification of socio-economic sectors vulnerable to a disease outbreak presents an important challenge to the civic authorities and healthcare workers interested in outbreak mitigation measures. This problem was traditionally solved by studying the aberrances in small-scale healthcare data. In this paper, we leverage data driven models to determine the relationship between the trends of World Development Indicators and occurrence of disease outbreaks using worldwide historical data from 2000-2019, and treat it as a classic supervised classification problem. CART based feature selection was employed in an unorthodox fashion to determine the covariates getting affected by the disease outbreak, thus giving the most vulnerable sectors. The result involves a comprehensive analysis of different classification algorithms and is indicative of the relationship between the disease outbreak occurrence and the magnitudes of various development indicators.

Databases of electronic health records (EHRs) are increasingly used to inform clinical decisions. Machine learning methods can find patterns in EHRs that are predictive of future adverse outcomes. However, statistical models may be built upon patterns of health-seeking behavior that vary across patient subpopulations, leading to poor predictive performance when training on one patient population and predicting on another. This note proposes two tests to better measure and understand model generalization. We use these tests to compare models derived from two data sources: (i) historical medical records, and (ii) electrocardiogram (EKG) waveforms. In a predictive task, we show that EKG-based models can be more stable than EHR-based models across different patient populations.

In this article, we conduct data mining to discover the countries, universities and companies, produced or collaborated the most research on Covid-19 since the pandemic started. We present some interesting findings, but despite analysing all available records on COVID-19 from the Web of Science Core Collection, we failed to reach any significant conclusions on how the world responded to the COVID-19 pandemic. Therefore, we increased our analysis to include all available data records on pandemics and epidemics from 1900 to 2020. We discover some interesting results on countries, universities and companies, that produced collaborated most the most in research on pandemic and epidemics. Then we compared the results with the analysing on COVID-19 data records. This has created some interesting findings that are explained and graphically visualised in the article.

Objective digital data is scarce yet needed in many domains to enable research that can transform the standard of healthcare. While data from consumer-grade wearables and smartphones is more accessible, there is critical need for similar data from clinical-grade devices used by patients with a diagnosed condition. The prevalence of wearable medical devices in the diabetes domain sets the stage for unique research and development within this field and beyond. However, the scarcity of open-source datasets presents a major barrier to progress. To facilitate broader research on diabetes-relevant problems and accelerate development of robust computational solutions, we provide the DiaTrend dataset. The DiaTrend dataset is composed of intensive longitudinal data from wearable medical devices, including a total of 27,561 days of continuous glucose monitor data and 8,220 days of insulin pump data from 54 patients with diabetes. This dataset is useful for developing novel analytic solutions that can reduce the disease burden for people living with diabetes and increase knowledge on chronic condition management in outpatient settings.

In recent years, the machine learning research community has benefited tremendously from the availability of openly accessible benchmark datasets. Clinical data are usually not openly available due to their highly confidential nature. This has hampered the development of reproducible and generalisable machine learning applications in health care. Here we introduce the Health Gym - a growing collection of highly realistic synthetic medical datasets that can be freely accessed to prototype, evaluate, and compare machine learning algorithms, with a specific focus on reinforcement learning. The three synthetic datasets described in this paper present patient cohorts with acute hypotension and sepsis in the intensive care unit, and people with human immunodeficiency virus (HIV) receiving antiretroviral therapy in ambulatory care. The datasets were created using a novel generative adversarial network (GAN). The distributions of variables, and correlations between variables and trends over time in the synthetic datasets mirror those in the real datasets. Furthermore, the risk of sensitive information disclosure associated with the public distribution of the synthetic datasets is estimated to be very low.

Disease risk prediction has attracted increasing attention in the field of modern healthcare, especially with the latest advances in artificial intelligence (AI). Electronic health records (EHRs), which contain heterogeneous patient information, are widely used in disease risk prediction tasks. One challenge of applying AI models for risk prediction lies in generating interpretable evidence to support the prediction results while retaining the prediction ability. In order to address this problem, we propose the method of jointly embedding words and labels whereby attention modules learn the weights of words from medical notes according to their relevance to the names of risk prediction labels. This approach boosts interpretability by employing an attention mechanism and including the names of prediction tasks in the model. However, its application is only limited to the handling of textual inputs such as medical notes. In this paper, we propose a label dependent attention model LDAM to 1) improve the interpretability by exploiting Clinical-BERT (a biomedical language model pre-trained on a large clinical corpus) to encode biomedically meaningful features and labels jointly; 2) extend the idea of joint embedding to the processing of time-series data, and develop a multi-modal learning framework for integrating heterogeneous information from medical notes and time-series health status indicators. To demonstrate our method, we apply LDAM to the MIMIC-III dataset to predict different disease risks. We evaluate our method both quantitatively and qualitatively. Specifically, the predictive power of LDAM will be shown, and case studies will be carried out to illustrate its interpretability.

The demand for emergency department (ED) services is increasing across the globe, particularly during the current COVID-19 pandemic. Clinical triage and risk assessment have become increasingly challenging due to the shortage of medical resources and the strain on hospital infrastructure caused by the pandemic. As a result of the widespread use of electronic health records (EHRs), we now have access to a vast amount of clinical data, which allows us to develop predictive models and decision support systems to address these challenges. To date, however, there are no widely accepted benchmark ED triage prediction models based on large-scale public EHR data. An open-source benchmarking platform would streamline research workflows by eliminating cumbersome data preprocessing, and facilitate comparisons among different studies and methodologies. In this paper, based on the Medical Information Mart for Intensive Care IV Emergency Department (MIMIC-IV-ED) database, we developed a publicly available benchmark suite for ED triage predictive models and created a benchmark dataset that contains over 400,000 ED visits from 2011 to 2019. We introduced three ED-based outcomes (hospitalization, critical outcomes, and 72-hour ED reattendance) and implemented a variety of popular methodologies, ranging from machine learning methods to clinical scoring systems. We evaluated and compared the performance of these methods against benchmark tasks. Our codes are open-source, allowing anyone with MIMIC-IV-ED data access to perform the same steps in data processing, benchmark model building, and experiments. This study provides future researchers with insights, suggestions, and protocols for managing raw data and developing risk triaging tools for emergency care.

Question Answering on Electronic Health Records (EHR-QA) has a significant impact on the healthcare domain, and it is being actively studied. Previous research on structured EHR-QA focuses on converting natural language queries into query language such as SQL or SPARQL (NLQ2Query), so the problem scope is limited to pre-defined data types by the specific query language. In order to expand the EHR-QA task beyond this limitation to handle multi-modal medical data and solve complex inference in the future, more primitive systemic language is needed. In this paper, we design the program-based model (NLQ2Program) for EHR-QA as the first step towards the future direction. We tackle MIMICSPARQL*, the graph-based EHR-QA dataset, via a program-based approach in a semi-supervised manner in order to overcome the absence of gold programs. Without the gold program, our proposed model shows comparable performance to the previous state-of-the-art model, which is an NLQ2Query model (0.9% gain). In addition, for a reliable EHR-QA model, we apply the uncertainty decomposition method to measure the ambiguity in the input question. We empirically confirmed data uncertainty is most indicative of the ambiguity in the input question.

Electronic medical records (EMR) contain sensitive personal information. For example, they may include details about infectious diseases, such as human immunodeficiency virus (HIV), or they may contain information about a mental illness. They may also contain other sensitive information such as medical details related to fertility treatments. Because EMRs are subject to confidentiality requirements, accessing and analyzing EMR databases is a privilege given to only a small number of individuals. Individuals who work at institutions that do not have access to EMR systems have no opportunity to gain hands-on experience with this valuable resource. Simulated medical databases are currently available; however, they are difficult to configure and are limited in their resemblance to real clinical databases. Generating highly accessible repositories of virtual patient EMRs while relying only minimally on real patient data is expected to serve as a valuable resource to a broader audience of medical personnel, including those who reside in underdeveloped countries.

Electronic Health Records (EHRs) hold immense potential for advancing healthcare, offering rich, longitudinal data that combines structured information with valuable insights from unstructured clinical notes. However, the unstructured nature of clinical text poses significant challenges for secondary applications. Traditional methods for structuring EHR free-text data, such as rule-based systems and multi-stage pipelines, are often limited by their time-consuming configurations and inability to adapt across clinical notes from diverse healthcare settings. Few systems provide a comprehensive attribute extraction for terminologies. While giant large language models (LLMs) like GPT-4 and LLaMA 405B excel at structuring tasks, they are slow, costly, and impractical for large-scale use. To overcome these limitations, we introduce GENIE, a Generative Note Information Extraction system that leverages LLMs to streamline the structuring of unstructured clinical text into usable data with standardized format. GENIE processes entire paragraphs in a single pass, extracting entities, assertion statuses, locations, modifiers, values, and purposes with high accuracy. Its unified, end-to-end approach simplifies workflows, reduces errors, and eliminates the need for extensive manual intervention. Using a robust data preparation pipeline and fine-tuned small scale LLMs, GENIE achieves competitive performance across multiple information extraction tasks, outperforming traditional tools like cTAKES and MetaMap and can handle extra attributes to be extracted. GENIE strongly enhances real-world applicability and scalability in healthcare systems. By open-sourcing the model and test data, we aim to encourage collaboration and drive further advancements in EHR structurization.

Background: Social media platforms have become a viable source of medical information, with patients and healthcare professionals using them to share health-related information and track diseases. Similarly, YouTube, the largest video-sharing platform in the world contains vlogs where individuals talk about their illnesses. The aim of our study was to investigate the use of Natural Language Processing (NLP) to identify the spoken content of YouTube vlogs related to the diagnosis of Coronavirus disease of 2019 (COVID-19) for public health screening. Methods: COVID-19 videos on YouTube were searched using relevant keywords. A total of 1000 videos being spoken in English were downloaded out of which 791 were classified as vlogs, 192 were non-vlogs, and 17 were deleted by the channel. The videos were converted into a textual format using Microsoft Streams. The textual data was preprocessed using basic and advanced preprocessing methods. A lexicon of 200 words was created which contained words related to COVID-19. The data was analyzed using topic modeling, word clouds, and lexicon matching. Results: The word cloud results revealed discussions about COVID-19 symptoms like "fever", along with generic terms such as "mask" and "isolation". Lexical analysis demonstrated that in 96.46% of videos, patients discussed generic terms, and in 95.45% of videos, people talked about COVID-19 symptoms. LDA Topic Modeling results also generated topics that successfully captured key themes and content related to our investigation of COVID-19 diagnoses in YouTube vlogs. Conclusion: By leveraging NLP techniques on YouTube vlogs public health practitioners can enhance their ability to mitigate the effects of pandemics and effectively respond to public health challenges.

The exponential surge in online health information, coupled with its increasing use by non-experts, highlights the pressing need for advanced Health Information Retrieval models that consider not only topical relevance but also the factual accuracy of the retrieved information, given the potential risks associated with health misinformation. To this aim, this paper introduces a solution driven by Retrieval-Augmented Generation (RAG), which leverages the capabilities of generative Large Language Models (LLMs) to enhance the retrieval of health-related documents grounded in scientific evidence. In particular, we propose a three-stage model: in the first stage, the user's query is employed to retrieve topically relevant passages with associated references from a knowledge base constituted by scientific literature. In the second stage, these passages, alongside the initial query, are processed by LLMs to generate a contextually relevant rich text (GenText). In the last stage, the documents to be retrieved are evaluated and ranked both from the point of view of topical relevance and factual accuracy by means of their comparison with GenText, either through stance detection or semantic similarity. In addition to calculating factual accuracy, GenText can offer a layer of explainability for it, aiding users in understanding the reasoning behind the retrieval. Experimental evaluation of our model on benchmark datasets and against baseline models demonstrates its effectiveness in enhancing the retrieval of both topically relevant and factually accurate health information, thus presenting a significant step forward in the health misinformation mitigation problem.

Extracting patient information from unstructured text is a critical task in health decision-support and clinical research. Large language models (LLMs) have shown the potential to accelerate clinical curation via few-shot in-context learning, in contrast to supervised learning which requires much more costly human annotations. However, despite drastic advances in modern LLMs such as GPT-4, they still struggle with issues regarding accuracy and interpretability, especially in mission-critical domains such as health. Here, we explore a general mitigation framework using self-verification, which leverages the LLM to provide provenance for its own extraction and check its own outputs. This is made possible by the asymmetry between verification and generation, where the latter is often much easier than the former. Experimental results show that our method consistently improves accuracy for various LLMs in standard clinical information extraction tasks. Additionally, self-verification yields interpretations in the form of a short text span corresponding to each output, which makes it very efficient for human experts to audit the results, paving the way towards trustworthy extraction of clinical information in resource-constrained scenarios. To facilitate future research in this direction, we release our code and prompts.

Breast cancer screening plays a pivotal role in early detection and subsequent effective management of the disease, impacting patient outcomes and survival rates. This study aims to assess breast cancer screening rates nationwide in the United States and investigate the impact of social determinants of health on these screening rates. Data on mammography screening at the census tract level for 2018 and 2020 were collected from the Behavioral Risk Factor Surveillance System. We developed a large dataset of social determinants of health, comprising 13 variables for 72337 census tracts. Spatial analysis employing Getis-Ord Gi statistics was used to identify clusters of high and low breast cancer screening rates. To evaluate the influence of these social determinants, we implemented a random forest model, with the aim of comparing its performance to linear regression and support vector machine models. The models were evaluated using R2 and root mean squared error metrics. Shapley Additive Explanations values were subsequently used to assess the significance of variables and direction of their influence. Geospatial analysis revealed elevated screening rates in the eastern and northern United States, while central and midwestern regions exhibited lower rates. The random forest model demonstrated superior performance, with an R2=64.53 and root mean squared error of 2.06 compared to linear regression and support vector machine models. Shapley Additive Explanations values indicated that the percentage of the Black population, the number of mammography facilities within a 10-mile radius, and the percentage of the population with at least a bachelor's degree were the most influential variables, all positively associated with mammography screening rates.

Large language models (LLMs) hold immense promise to serve complex health information needs but also have the potential to introduce harm and exacerbate health disparities. Reliably evaluating equity-related model failures is a critical step toward developing systems that promote health equity. In this work, we present resources and methodologies for surfacing biases with potential to precipitate equity-related harms in long-form, LLM-generated answers to medical questions and then conduct an empirical case study with Med-PaLM 2, resulting in the largest human evaluation study in this area to date. Our contributions include a multifactorial framework for human assessment of LLM-generated answers for biases, and EquityMedQA, a collection of seven newly-released datasets comprising both manually-curated and LLM-generated questions enriched for adversarial queries. Both our human assessment framework and dataset design process are grounded in an iterative participatory approach and review of possible biases in Med-PaLM 2 answers to adversarial queries. Through our empirical study, we find that the use of a collection of datasets curated through a variety of methodologies, coupled with a thorough evaluation protocol that leverages multiple assessment rubric designs and diverse rater groups, surfaces biases that may be missed via narrower evaluation approaches. Our experience underscores the importance of using diverse assessment methodologies and involving raters of varying backgrounds and expertise. We emphasize that while our framework can identify specific forms of bias, it is not sufficient to holistically assess whether the deployment of an AI system promotes equitable health outcomes. We hope the broader community leverages and builds on these tools and methods towards realizing a shared goal of LLMs that promote accessible and equitable healthcare for all.

Medical Imaging (MI) datasets are fundamental to artificial intelligence in healthcare. The accuracy, robustness, and fairness of diagnostic algorithms depend on the data (and its quality) used to train and evaluate the models. MI datasets used to be proprietary, but have become increasingly available to the public, including on community-contributed platforms (CCPs) like Kaggle or HuggingFace. While open data is important to enhance the redistribution of data's public value, we find that the current CCP governance model fails to uphold the quality needed and recommended practices for sharing, documenting, and evaluating datasets. In this paper, we conduct an analysis of publicly available machine learning datasets on CCPs, discussing datasets' context, and identifying limitations and gaps in the current CCP landscape. We highlight differences between MI and computer vision datasets, particularly in the potentially harmful downstream effects from poor adoption of recommended dataset management practices. We compare the analyzed datasets across several dimensions, including data sharing, data documentation, and maintenance. We find vague licenses, lack of persistent identifiers and storage, duplicates, and missing metadata, with differences between the platforms. Our research contributes to efforts in responsible data curation and AI algorithms for healthcare.

Healthcare is an important aspect of human life. Use of technologies in healthcare has increased manifolds after the pandemic. Internet of Things based systems and devices proposed in literature can help elders, children and adults facing/experiencing health problems. This paper exhaustively reviews thirty-nine wearable based datasets which can be used for evaluating the system to recognize Activities of Daily Living and Falls. A comparative analysis on the SisFall dataset using five machine learning methods i.e., Logistic Regression, Linear Discriminant Analysis, K-Nearest Neighbor, Decision Tree and Naive Bayes is performed in python. The dataset is modified in two ways, in first all the attributes present in dataset are used as it is and labelled in binary form. In second, magnitude of three axes(x,y,z) for three sensors value are computed and then used in experiment with label attribute. The experiments are performed on one subject, ten subjects and all the subjects and compared in terms of accuracy, precision and recall. The results obtained from this study proves that KNN outperforms other machine learning methods in terms of accuracy, precision and recall. It is also concluded that personalization of data improves accuracy.

Reproducibility remains a significant challenge in machine learning (ML) for healthcare. In this field, datasets, model pipelines, and even task/cohort definitions are often private, leading to a significant barrier in sharing, iterating, and understanding ML results on electronic health record (EHR) datasets. In this paper, we address a significant part of this problem by introducing the Automatic Cohort Extraction System for Event-Stream Datasets (ACES). This tool is designed to simultaneously simplify the development of task/cohorts for ML in healthcare and enable the reproduction of these cohorts, both at an exact level for single datasets and at a conceptual level across datasets. To accomplish this, ACES provides (1) a highly intuitive and expressive configuration language for defining both dataset-specific concepts and dataset-agnostic inclusion/exclusion criteria, and (2) a pipeline to automatically extract patient records that meet these defined criteria from real-world data. ACES can be automatically applied to any dataset in either the Medical Event Data Standard (MEDS) or EventStreamGPT (ESGPT) formats, or to *any* dataset for which the necessary task-specific predicates can be extracted in an event-stream form. ACES has the potential to significantly lower the barrier to entry for defining ML tasks, redefine the way researchers interact with EHR datasets, and significantly improve the state of reproducibility for ML studies in this modality. ACES is available at https://github.com/justin13601/aces.

Infodemics and health misinformation have significant negative impact on individuals and society, exacerbating confusion and increasing hesitancy in adopting recommended health measures. Recent advancements in generative AI, capable of producing realistic, human like text and images, have significantly accelerated the spread and expanded the reach of health misinformation, resulting in an alarming surge in its dissemination. To combat the infodemics, most existing work has focused on developing misinformation datasets from social media and fact checking platforms, but has faced limitations in topical coverage, inclusion of AI generation, and accessibility of raw content. To address these issues, we present MM Health, a large scale multimodal misinformation dataset in the health domain consisting of 34,746 news article encompassing both textual and visual information. MM Health includes human-generated multimodal information (5,776 articles) and AI generated multimodal information (28,880 articles) from various SOTA generative AI models. Additionally, We benchmarked our dataset against three tasks (reliability checks, originality checks, and fine-grained AI detection) demonstrating that existing SOTA models struggle to accurately distinguish the reliability and origin of information. Our dataset aims to support the development of misinformation detection across various health scenarios, facilitating the detection of human and machine generated content at multimodal levels.

Digital healthcare infrastructure is crucial for global medical service delivery. Egypt faces EHR adoption barriers: only 314 hospitals had such systems as of Oct 2024. This limits data management and decision-making. This project introduces an EHR system for Egypt's Universal Health Insurance and healthcare ecosystem. It simplifies data management by centralizing medical histories with a scalable micro-services architecture and polyglot persistence for real-time access and provider communication. Clinical workflows are enhanced via patient examination and history tracking. The system uses the Llama3-OpenBioLLM-70B model to generate summaries of medical histories, provide chatbot features, and generate AI-based medical reports, enabling efficient searches during consultations. A Vision Transformer (ViT) aids in pneumonia classification. Evaluations show the AI excels in capturing details (high recall) but needs improvement in concise narratives. With optimization (retrieval-augmented generation, local data fine-tuning, interoperability protocols), this AI-driven EHR could enhance diagnostic support, decision-making, and healthcare delivery in Egypt.

Social and behavioral determinants of health (SBDH) play a crucial role in health outcomes and are frequently documented in clinical text. Automatically extracting SBDH information from clinical text relies on publicly available good-quality datasets. However, existing SBDH datasets exhibit substantial limitations in their availability and coverage. In this study, we introduce Synth-SBDH, a novel synthetic dataset with detailed SBDH annotations, encompassing status, temporal information, and rationale across 15 SBDH categories. We showcase the utility of Synth-SBDH on three tasks using real-world clinical datasets from two distinct hospital settings, highlighting its versatility, generalizability, and distillation capabilities. Models trained on Synth-SBDH consistently outperform counterparts with no Synth-SBDH training, achieving up to 62.5% macro-F improvements. Additionally, Synth-SBDH proves effective for rare SBDH categories and under-resource constraints. Human evaluation demonstrates a Human-LLM alignment of 71.06% and uncovers areas for future refinements.

Predicting disease trajectories from electronic health records (EHRs) is a complex task due to major challenges such as data non-stationarity, high granularity of medical codes, and integration of multimodal data. EHRs contain both structured data, such as diagnostic codes, and unstructured data, such as clinical notes, which hold essential information often overlooked. Current models, primarily based on structured data, struggle to capture the complete medical context of patients, resulting in a loss of valuable information. To address this issue, we propose an approach that integrates unstructured clinical notes into transformer-based deep learning models for sequential disease prediction. This integration enriches the representation of patients' medical histories, thereby improving the accuracy of diagnosis predictions. Experiments on MIMIC-IV datasets demonstrate that the proposed approach outperforms traditional models relying solely on structured data.

In this study, we provide solutions to two practical yet overlooked scenarios in federated learning for electronic health records (EHRs): firstly, we introduce EHRFL, a framework that facilitates federated learning across healthcare institutions with distinct medical coding systems and database schemas using text-based linearization of EHRs. Secondly, we focus on a scenario where a single healthcare institution initiates federated learning to build a model tailored for itself, in which the number of clients must be optimized in order to reduce expenses incurred by the host. For selecting participating clients, we present a novel precision-based method, leveraging data latents to identify suitable participants for the institution. Our empirical results show that EHRFL effectively enables federated learning across hospitals with different EHR systems. Furthermore, our results demonstrate the efficacy of our precision-based method in selecting reduced number of participating clients without compromising model performance, resulting in lower operational costs when constructing institution-specific models. We believe this work lays a foundation for the broader adoption of federated learning on EHRs.

Nowadays the medical domain is receiving more and more attention in applications involving Artificial Intelligence. Clinicians have to deal with an enormous amount of unstructured textual data to make a conclusion about patients' health in their everyday life. Argument mining helps to provide a structure to such data by detecting argumentative components in the text and classifying the relations between them. However, as it is the case for many tasks in Natural Language Processing in general and in medical text processing in particular, the large majority of the work on computational argumentation has been done only for English. This is also the case with the only dataset available for argumentation in the medical domain, namely, the annotated medical data of abstracts of Randomized Controlled Trials (RCT) from the MEDLINE database. In order to mitigate the lack of annotated data for other languages, we empirically investigate several strategies to perform argument mining and classification in medical texts for a language for which no annotated data is available. This project shows that automatically translating and project annotations from English to a target language (Spanish) is an effective way to generate annotated data without manual intervention. Furthermore, our experiments demonstrate that the translation and projection approach outperforms zero-shot cross-lingual approaches using a large masked multilingual language model. Finally, we show how the automatically generated data in Spanish can also be used to improve results in the original English evaluation setting.

Data science plays a critical role in clinical research, but it requires professionals with expertise in coding and medical data analysis. Large language models (LLMs) have shown great potential in supporting medical tasks and performing well in general coding tests. However, these tests do not assess LLMs' ability to handle data science tasks in medicine, nor do they explore their practical utility in clinical research. To address this, we developed a dataset consisting of 293 real-world data science coding tasks, based on 39 published clinical studies, covering 128 tasks in Python and 165 tasks in R. This dataset simulates realistic clinical research scenarios using patient data. Our findings reveal that cutting-edge LLMs struggle to generate perfect solutions, frequently failing to follow input instructions, understand target data, and adhere to standard analysis practices. Consequently, LLMs are not yet ready to fully automate data science tasks. We benchmarked advanced adaptation methods and found two to be particularly effective: chain-of-thought prompting, which provides a step-by-step plan for data analysis, which led to a 60% improvement in code accuracy; and self-reflection, enabling LLMs to iteratively refine their code, yielding a 38% accuracy improvement. Building on these insights, we developed a platform that integrates LLMs into the data science workflow for medical professionals. In a user study with five medical doctors, we found that while LLMs cannot fully automate coding tasks, they significantly streamline the programming process. We found that 80% of their submitted code solutions were incorporated from LLM-generated code, with up to 96% reuse in some cases. Our analysis highlights the potential of LLMs, when integrated into expert workflows, to enhance data science efficiency in clinical research.

Objective: To improve prediction of Chronic Kidney Disease (CKD) progression to End Stage Renal Disease (ESRD) using machine learning (ML) and deep learning (DL) models applied to an integrated clinical and claims dataset of varying observation windows, supported by explainable AI (XAI) to enhance interpretability and reduce bias. Materials and Methods: We utilized data about 10,326 CKD patients, combining their clinical and claims information from 2009 to 2018. Following data preprocessing, cohort identification, and feature engineering, we evaluated multiple statistical, ML and DL models using data extracted from five distinct observation windows. Feature importance and Shapley value analysis were employed to understand key predictors. Models were tested for robustness, clinical relevance, misclassification errors and bias issues. Results: Integrated data models outperformed those using single data sources, with the Long Short-Term Memory (LSTM) model achieving the highest AUC (0.93) and F1 score (0.65). A 24-month observation window was identified as optimal for balancing early detection and prediction accuracy. The 2021 eGFR equation improved prediction accuracy and reduced racial bias, notably for African American patients. Discussion: Improved ESRD prediction accuracy, results interpretability and bias mitigation strategies presented in this study have the potential to significantly enhance CKD and ESRD management, support targeted early interventions and reduce healthcare disparities. Conclusion: This study presents a robust framework for predicting ESRD outcomes in CKD patients, improving clinical decision-making and patient care through multi-sourced, integrated data and AI/ML methods. Future research will expand data integration and explore the application of this framework to other chronic diseases.

Identifying disease phenotypes from electronic health records (EHRs) is critical for numerous secondary uses. Manually encoding physician knowledge into rules is particularly challenging for rare diseases due to inadequate EHR coding, necessitating review of clinical notes. Large language models (LLMs) offer promise in text understanding but may not efficiently handle real-world clinical documentation. We propose a zero-shot LLM-based method enriched by retrieval-augmented generation and MapReduce, which pre-identifies disease-related text snippets to be used in parallel as queries for the LLM to establish diagnosis. We show that this method as applied to pulmonary hypertension (PH), a rare disease characterized by elevated arterial pressures in the lungs, significantly outperforms physician logic rules (F_1 score of 0.62 vs. 0.75). This method has the potential to enhance rare disease cohort identification, expanding the scope of robust clinical research and care gap identification.

In medical data analysis, extracting deep insights from complex, multi-modal datasets is essential for improving patient care, increasing diagnostic accuracy, and optimizing healthcare operations. However, there is currently a lack of high-quality datasets specifically designed to evaluate the ability of large multi-modal models (LMMs) to discover medical insights. In this paper, we introduce MedInsightBench, the first benchmark that comprises 332 carefully curated medical cases, each annotated with thoughtfully designed insights. This benchmark is intended to evaluate the ability of LMMs and agent frameworks to analyze multi-modal medical image data, including posing relevant questions, interpreting complex findings, and synthesizing actionable insights and recommendations. Our analysis indicates that existing LMMs exhibit limited performance on MedInsightBench, which is primarily attributed to their challenges in extracting multi-step, deep insights and the absence of medical expertise. Therefore, we propose MedInsightAgent, an automated agent framework for medical data analysis, composed of three modules: Visual Root Finder, Analytical Insight Agent, and Follow-up Question Composer. Experiments on MedInsightBench highlight pervasive challenges and demonstrate that MedInsightAgent can improve the performance of general LMMs in medical data insight discovery.

The introduction of computerized medical records in hospitals has reduced burdensome operations like manual writing and information fetching. However, the data contained in medical records are still far underutilized, primarily because extracting them from unstructured textual medical records takes time and effort. Information Extraction, a subfield of Natural Language Processing, can help clinical practitioners overcome this limitation, using automated text-mining pipelines. In this work, we created the first Italian neuropsychiatric Named Entity Recognition dataset, PsyNIT, and used it to develop a Large Language Model for this task. Moreover, we conducted several experiments with three external independent datasets to implement an effective multicenter model, with overall F1-score 84.77%, Precision 83.16%, Recall 86.44%. The lessons learned are: (i) the crucial role of a consistent annotation process and (ii) a fine-tuning strategy that combines classical methods with a "few-shot" approach. This allowed us to establish methodological guidelines that pave the way for future implementations in this field and allow Italian hospitals to tap into important research opportunities.

With Artificial Intelligence (AI) increasingly permeating various aspects of society, including healthcare, the adoption of the Transformers neural network architecture is rapidly changing many applications. Transformer is a type of deep learning architecture initially developed to solve general-purpose Natural Language Processing (NLP) tasks and has subsequently been adapted in many fields, including healthcare. In this survey paper, we provide an overview of how this architecture has been adopted to analyze various forms of data, including medical imaging, structured and unstructured Electronic Health Records (EHR), social media, physiological signals, and biomolecular sequences. Those models could help in clinical diagnosis, report generation, data reconstruction, and drug/protein synthesis. We identified relevant studies using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We also discuss the benefits and limitations of using transformers in healthcare and examine issues such as computational cost, model interpretability, fairness, alignment with human values, ethical implications, and environmental impact.

With the rapid development of large language models (LLMs), assessing their performance on health-related inquiries has become increasingly essential. It is critical that these models provide accurate and trustworthy health information, as their application in real-world contexts--where misinformation can have serious consequences for individuals seeking medical advice and support--depends on their reliability. In this work, we present CHBench, the first comprehensive Chinese Health-related Benchmark designed to evaluate LLMs' capabilities in understanding physical and mental health across diverse scenarios. CHBench includes 6,493 entries related to mental health and 2,999 entries focused on physical health, covering a broad spectrum of topics. This dataset serves as a foundation for evaluating Chinese LLMs' capacity to comprehend and generate accurate health-related information. Our extensive evaluations of four popular Chinese LLMs demonstrate that there remains considerable room for improvement in their understanding of health-related information. The code is available at https://github.com/TracyGuo2001/CHBench.

Seeking health-related advice on the internet has become a common practice in the digital era. Determining the trustworthiness of medical claims found online and finding appropriate evidence for this information is increasingly challenging. Fact-checking has emerged as an approach to assess the veracity of factual claims using evidence from credible knowledge sources. To help advance the automation of this task, in this paper, we introduce a novel dataset of 750 health-related claims, labeled for veracity by medical experts and backed with evidence from appropriate clinical studies. We provide an analysis of the dataset, highlighting its characteristics and challenges. The dataset can be used for Machine Learning tasks related to automated fact-checking such as evidence retrieval, veracity prediction, and explanation generation. For this purpose, we provide baseline models based on different approaches, examine their performance, and discuss the findings.

Background: Health datasets from clinical sources do not reflect the breadth and diversity of disease in the real world, impacting research, medical education, and artificial intelligence (AI) tool development. Dermatology is a suitable area to develop and test a new and scalable method to create representative health datasets. Methods: We used Google Search advertisements to invite contributions to an open access dataset of images of dermatology conditions, demographic and symptom information. With informed contributor consent, we describe and release this dataset containing 10,408 images from 5,033 contributions from internet users in the United States over 8 months starting March 2023. The dataset includes dermatologist condition labels as well as estimated Fitzpatrick Skin Type (eFST) and Monk Skin Tone (eMST) labels for the images. Results: We received a median of 22 submissions/day (IQR 14-30). Female (66.72%) and younger (52% < age 40) contributors had a higher representation in the dataset compared to the US population, and 32.6% of contributors reported a non-White racial or ethnic identity. Over 97.5% of contributions were genuine images of skin conditions. Dermatologist confidence in assigning a differential diagnosis increased with the number of available variables, and showed a weaker correlation with image sharpness (Spearman's P values <0.001 and 0.01 respectively). Most contributions were short-duration (54% with onset < 7 days ago ) and 89% were allergic, infectious, or inflammatory conditions. eFST and eMST distributions reflected the geographical origin of the dataset. The dataset is available at github.com/google-research-datasets/scin . Conclusion: Search ads are effective at crowdsourcing images of health conditions. The SCIN dataset bridges important gaps in the availability of representative images of common skin conditions.

Objective: Question answering (QA) systems have the potential to improve the quality of clinical care by providing health professionals with the latest and most relevant evidence. However, QA systems have not been widely adopted. This systematic review aims to characterize current medical QA systems, assess their suitability for healthcare, and identify areas of improvement. Materials and methods: We searched PubMed, IEEE Xplore, ACM Digital Library, ACL Anthology and forward and backward citations on 7th February 2023. We included peer-reviewed journal and conference papers describing the design and evaluation of biomedical QA systems. Two reviewers screened titles, abstracts, and full-text articles. We conducted a narrative synthesis and risk of bias assessment for each study. We assessed the utility of biomedical QA systems. Results: We included 79 studies and identified themes, including question realism, answer reliability, answer utility, clinical specialism, systems, usability, and evaluation methods. Clinicians' questions used to train and evaluate QA systems were restricted to certain sources, types and complexity levels. No system communicated confidence levels in the answers or sources. Many studies suffered from high risks of bias and applicability concerns. Only 8 studies completely satisfied any criterion for clinical utility, and only 7 reported user evaluations. Most systems were built with limited input from clinicians. Discussion: While machine learning methods have led to increased accuracy, most studies imperfectly reflected real-world healthcare information needs. Key research priorities include developing more realistic healthcare QA datasets and considering the reliability of answer sources, rather than merely focusing on accuracy.

The digitization of medical records ushered in a new era of big data to clinical science, and with it the possibility that data could be shared, to multiply insights beyond what investigators could abstract from paper records. The need to share individual-level medical data to accelerate innovation in precision medicine continues to grow, and has never been more urgent, as scientists grapple with the COVID-19 pandemic. However, enthusiasm for the use of big data has been tempered by a fully appropriate concern for patient autonomy and privacy. That is, the ability to extract private or confidential information about an individual, in practice, renders it difficult to share data, since significant infrastructure and data governance must be established before data can be shared. Although HIPAA provided de-identification as an approved mechanism for data sharing, linkage attacks were identified as a major vulnerability. A variety of mechanisms have been established to avoid leaking private information, such as field suppression or abstraction, strictly limiting the amount of information that can be shared, or employing mathematical techniques such as differential privacy. Another approach, which we focus on here, is creating synthetic data that mimics the underlying data. For synthetic data to be a useful mechanism in support of medical innovation and a proxy for real-world evidence, one must demonstrate two properties of the synthetic dataset: (1) any analysis on the real data must be matched by analysis of the synthetic data (statistical fidelity) and (2) the synthetic data must preserve privacy, with minimal risk of re-identification (privacy guarantee). In this paper we propose a framework for quantifying the statistical fidelity and privacy preservation properties of synthetic datasets and demonstrate these metrics for synthetic data generated by Syntegra technology.

Motivation: Patient-generated text contains critical information about patients' lived experiences, social circumstances, and engagement in care, including factors that strongly influence adherence, care coordination, and health equity. However, these patient voice signals are rarely available in structured form, limiting their use in patient-centered outcomes research and clinical quality improvement. Reliable extraction of such information is therefore essential for understanding and addressing non-clinical drivers of health outcomes at scale. Results: We introduce PVminer, a benchmark for structured extraction of patient voice, and propose PVminerLLM, a supervised fine-tuned large language model tailored to this task. Across multiple datasets and model sizes, PVminerLLM substantially outperforms prompt-based baselines, achieving up to 83.82% F1 for Code prediction, 80.74% F1 for Sub-code prediction, and 87.03% F1 for evidence Span extraction. Notably, strong performance is achieved even with smaller models, demonstrating that reliable patient voice extraction is feasible without extreme model scale. These results enable scalable analysis of social and experiential signals embedded in patient-generated text. Availability and Implementation: Code, evaluation scripts, and trained LLMs will be released publicly. Annotated datasets will be made available upon request for research use. Keywords: Large Language Models, Supervised Fine-Tuning, Medical Annotation, Patient-Generated Text, Clinical NLP

The advancement in healthcare has shifted focus toward patient-centric approaches, particularly in self-care and patient education, facilitated by access to Electronic Health Records (EHR). However, medical jargon in EHRs poses significant challenges in patient comprehension. To address this, we introduce a new task of automatically generating lay definitions, aiming to simplify complex medical terms into patient-friendly lay language. We first created the README dataset, an extensive collection of over 50,000 unique (medical term, lay definition) pairs and 300,000 mentions, each offering context-aware lay definitions manually annotated by domain experts. We have also engineered a data-centric Human-AI pipeline that synergizes data filtering, augmentation, and selection to improve data quality. We then used README as the training data for models and leveraged a Retrieval-Augmented Generation method to reduce hallucinations and improve the quality of model outputs. Our extensive automatic and human evaluations demonstrate that open-source mobile-friendly models, when fine-tuned with high-quality data, are capable of matching or even surpassing the performance of state-of-the-art closed-source large language models like ChatGPT. This research represents a significant stride in closing the knowledge gap in patient education and advancing patient-centric healthcare solutions.

De-identification of electronic health records (EHR) is a vital step towards advancing health informatics research and maximising the use of available data. It is a two-step process where step one is the identification of protected health information (PHI), and step two is replacing such PHI with surrogates. Despite the recent advances in automatic de-identification of EHR, significant obstacles remain if the abundant health data available are to be used to the full potential. Accuracy in de-identification could be considered a necessary, but not sufficient condition for the use of EHR without individual patient consent. We present here a comprehensive review of the progress to date, both the impressive successes in achieving high accuracy and the significant risks and challenges that remain. To best of our knowledge, this is the first paper to present a complete picture of end-to-end automatic de-identification. We review 18 recently published automatic de-identification systems -designed to de-identify EHR in the form of free text- to show the advancements made in improving the overall accuracy of the system, and in identifying individual PHI. We argue that despite the improvements in accuracy there remain challenges in surrogate generation and replacements of identified PHIs, and the risks posed to patient protection and privacy.

Background: Electronic Health Records hold detailed longitudinal information about each patient's health status and general clinical history, a large portion of which is stored within the unstructured text. Existing approaches focus mostly on structured data and a subset of single-domain outcomes. We explore how temporal modelling of patients from free text and structured data, using deep generative transformers can be used to forecast a wide range of future disorders, substances, procedures or findings. Methods: We present Foresight, a novel transformer-based pipeline that uses named entity recognition and linking tools to convert document text into structured, coded concepts, followed by providing probabilistic forecasts for future medical events such as disorders, substances, procedures and findings. We processed the entire free-text portion from three different hospital datasets totalling 811336 patients covering both physical and mental health. Findings: On tests in two UK hospitals (King's College Hospital, South London and Maudsley) and the US MIMIC-III dataset precision@10 0.68, 0.76 and 0.88 was achieved for forecasting the next disorder in a patient timeline, while precision@10 of 0.80, 0.81 and 0.91 was achieved for forecasting the next biomedical concept. Foresight was also validated on 34 synthetic patient timelines by five clinicians and achieved relevancy of 97% for the top forecasted candidate disorder. As a generative model, it can forecast follow-on biomedical concepts for as many steps as required. Interpretation: Foresight is a general-purpose model for biomedical concept modelling that can be used for real-world risk forecasting, virtual trials and clinical research to study the progression of disorders, simulate interventions and counterfactuals, and educational purposes.

This study quantifies the association between non-adherence to antipsychotic medications and adverse outcomes in individuals with schizophrenia. We frame the problem using survival analysis, focusing on the time to the earliest of several adverse events (early death, involuntary hospitalization, jail booking). We extend standard causal inference methods (T-learner, S-learner, nearest neighbor matching) to utilize various survival models to estimate individual and average treatment effects, where treatment corresponds to medication non-adherence. Analyses are repeated using different amounts of longitudinal information (3, 6, 9, and 12 months). Using data from Allegheny County in western Pennsylvania, we find strong evidence that non-adherence advances adverse outcomes by approximately 1 to 4 months. Ablation studies confirm that county-provided risk scores adjust for key confounders, as their removal amplifies the estimated effects. Subgroup analyses by medication formulation (injectable vs. oral) and medication type consistently show that non-adherence is associated with earlier adverse events. These findings highlight the clinical importance of adherence in delaying psychiatric crises and show that integrating survival analysis with causal inference tools can yield policy-relevant insights. We caution that although we apply causal inference, we only make associative claims and discuss assumptions needed for causal interpretation.

Large Language Model (LLM)-based systems increasingly rely on function calling to enable structured and controllable interaction with external data sources, yet existing datasets do not address mental health-oriented access to wearable sensor data. This paper presents a synthetic function-calling dataset designed for mental health assistance grounded in wearable health signals such as sleep, physical activity, cardiovascular measures, stress indicators, and metabolic data. The dataset maps diverse natural language queries to standardized API calls derived from a widely adopted health data schema. Each sample includes a user query, a query category, an explicit reasoning step, a normalized temporal parameter, and a target function. The dataset covers explicit, implicit, behavioral, symptom-based, and metaphorical expressions, which reflect realistic mental health-related user interactions. This resource supports research on intent grounding, temporal reasoning, and reliable function invocation in LLM-based mental health agents and is publicly released to promote reproducibility and future work.

Users of social platforms often perceive these sites as supportive spaces to post about their mental health issues. Those conversations contain important traces about individuals' health risks. Recently, researchers have exploited this online information to construct mental health detection models, which aim to identify users at risk on platforms like Twitter, Reddit or Facebook. Most of these models are centred on achieving good classification results, ignoring the explainability and interpretability of the decisions. Recent research has pointed out the importance of using clinical markers, such as the use of symptoms, to improve trust in the computational models by health professionals. In this paper, we propose using transformer-based architectures to detect and explain the appearance of depressive symptom markers in the users' writings. We present two approaches: i) train a model to classify, and another one to explain the classifier's decision separately and ii) unify the two tasks simultaneously using a single model. Additionally, for this latter manner, we also investigated the performance of recent conversational LLMs when using in-context learning. Our natural language explanations enable clinicians to interpret the models' decisions based on validated symptoms, enhancing trust in the automated process. We evaluate our approach using recent symptom-based datasets, employing both offline and expert-in-the-loop metrics to assess the quality of the explanations generated by our models. The experimental results show that it is possible to achieve good classification results while generating interpretable symptom-based explanations.

The utilization of large language models (LLMs) in the Healthcare domain has generated both excitement and concern due to their ability to effectively respond to freetext queries with certain professional knowledge. This survey outlines the capabilities of the currently developed LLMs for Healthcare and explicates their development process, with the aim of providing an overview of the development roadmap from traditional Pretrained Language Models (PLMs) to LLMs. Specifically, we first explore the potential of LLMs to enhance the efficiency and effectiveness of various Healthcare applications highlighting both the strengths and limitations. Secondly, we conduct a comparison between the previous PLMs and the latest LLMs, as well as comparing various LLMs with each other. Then we summarize related Healthcare training data, training methods, optimization strategies, and usage. Finally, the unique concerns associated with deploying LLMs in Healthcare settings are investigated, particularly regarding fairness, accountability, transparency and ethics. Our survey provide a comprehensive investigation from perspectives of both computer science and Healthcare specialty. Besides the discussion about Healthcare concerns, we supports the computer science community by compiling a collection of open source resources, such as accessible datasets, the latest methodologies, code implementations, and evaluation benchmarks in the Github. Summarily, we contend that a significant paradigm shift is underway, transitioning from PLMs to LLMs. This shift encompasses a move from discriminative AI approaches to generative AI approaches, as well as a shift from model-centered methodologies to datacentered methodologies.

Social Determinants of Health (SDoH) are economic, social and personal circumstances that affect or influence an individual's health status. SDoHs have shown to be correlated to wellness outcomes, and therefore, are useful to physicians in diagnosing diseases and in decision-making. In this work, we automatically extract SDoHs from clinical text using traditional deep learning and Large Language Models (LLMs) to find the advantages and disadvantages of each on an existing publicly available dataset. Our models outperform a previous reference point on a multilabel SDoH classification by 10 points, and we present a method and model to drastically speed up classification (12X execution time) by eliminating expensive LLM processing. The method we present combines a more nimble and efficient solution that leverages the power of the LLM for precision and traditional deep learning methods for efficiency. We also show highly performant results on a dataset supplemented with synthetic data and several traditional deep learning models that outperform LLMs. Our models and methods offer the next iteration of automatic prediction of SDoHs that impact at-risk patients.

Electronic health records (EHRs) contain vast amounts of complex data, but harmonizing and processing this information remains a challenging and costly task requiring significant clinical expertise. While large language models (LLMs) have shown promise in various healthcare applications, their potential for abstracting medical concepts from EHRs remains largely unexplored. We introduce EHRmonize, a framework leveraging LLMs to abstract medical concepts from EHR data. Our study uses medication data from two real-world EHR databases to evaluate five LLMs on two free-text extraction and six binary classification tasks across various prompting strategies. GPT-4o's with 10-shot prompting achieved the highest performance in all tasks, accompanied by Claude-3.5-Sonnet in a subset of tasks. GPT-4o achieved an accuracy of 97% in identifying generic route names, 82% for generic drug names, and 100% in performing binary classification of antibiotics. While EHRmonize significantly enhances efficiency, reducing annotation time by an estimated 60%, we emphasize that clinician oversight remains essential. Our framework, available as a Python package, offers a promising tool to assist clinicians in EHR data abstraction, potentially accelerating healthcare research and improving data harmonization processes.

Textual health records of cancer patients are usually protracted and highly unstructured, making it very time-consuming for health professionals to get a complete overview of the patient's therapeutic course. As such limitations can lead to suboptimal and/or inefficient treatment procedures, healthcare providers would greatly benefit from a system that effectively summarizes the information of those records. With the advent of deep neural models, this objective has been partially attained for English clinical texts, however, the research community still lacks an effective solution for languages with limited resources. In this paper, we present the approach we developed to extract procedures, drugs, and diseases from oncology health records written in European Portuguese. This project was conducted in collaboration with the Portuguese Institute for Oncology which, besides holding over 10 years of duly protected medical records, also provided oncologist expertise throughout the development of the project. Since there is no annotated corpus for biomedical entity extraction in Portuguese, we also present the strategy we followed in annotating the corpus for the development of the models. The final models, which combined a neural architecture with entity linking, achieved F_1 scores of 88.6, 95.0, and 55.8 per cent in the mention extraction of procedures, drugs, and diseases, respectively.

Despite numerous applications for fine-grained corpus analysis, researchers continue to rely on manual labeling, which does not scale, or statistical tools like topic modeling, which are difficult to control. We propose that LLMs have the potential to scale the nuanced analyses that researchers typically conduct manually to large text corpora. To this effect, inspired by qualitative research methods, we develop HICode, a two-part pipeline that first inductively generates labels directly from analysis data and then hierarchically clusters them to surface emergent themes. We validate this approach across three diverse datasets by measuring alignment with human-constructed themes and demonstrating its robustness through automated and human evaluations. Finally, we conduct a case study of litigation documents related to the ongoing opioid crisis in the U.S., revealing aggressive marketing strategies employed by pharmaceutical companies and demonstrating HICode's potential for facilitating nuanced analyses in large-scale data.

The COVID-19 pandemic swept across the world rapidly, infecting millions of people. An efficient tool that can accurately recognize important clinical concepts of COVID-19 from free text in electronic health records (EHRs) will be valuable to accelerate COVID-19 clinical research. To this end, this study aims at adapting the existing CLAMP natural language processing tool to quickly build COVID-19 SignSym, which can extract COVID-19 signs/symptoms and their 8 attributes (body location, severity, temporal expression, subject, condition, uncertainty, negation, and course) from clinical text. The extracted information is also mapped to standard concepts in the Observational Medical Outcomes Partnership common data model. A hybrid approach of combining deep learning-based models, curated lexicons, and pattern-based rules was applied to quickly build the COVID-19 SignSym from CLAMP, with optimized performance. Our extensive evaluation using 3 external sites with clinical notes of COVID-19 patients, as well as the online medical dialogues of COVID-19, shows COVID-19 Sign-Sym can achieve high performance across data sources. The workflow used for this study can be generalized to other use cases, where existing clinical natural language processing tools need to be customized for specific information needs within a short time. COVID-19 SignSym is freely accessible to the research community as a downloadable package (https://clamp.uth.edu/covid/nlp.php) and has been used by 16 healthcare organizations to support clinical research of COVID-19.

The absence of transparency and explainability hinders the clinical adoption of Machine learning (ML) algorithms. Although various methods of explainable artificial intelligence (XAI) have been suggested, there is a lack of literature that delves into their practicality and assesses them based on criteria that could foster trust in clinical environments. To address this gap this study evaluates two popular XAI methods used for explaining predictive models in the healthcare context in terms of whether they (i) generate domain-appropriate representation, i.e. coherent with respect to the application task, (ii) impact clinical workflow and (iii) are consistent. To that end, explanations generated at the cohort and patient levels were analysed. The paper reports the first benchmarking of the XAI methods applied to risk prediction models obtained by evaluating the concordance between generated explanations and the trigger of a future clinical deterioration episode recorded by the data collection system. We carried out an analysis using two Electronic Medical Records (EMR) datasets sourced from Australian major hospitals. The findings underscore the limitations of state-of-the-art XAI methods in the clinical context and their potential benefits. We discuss these limitations and contribute to the theoretical development of trustworthy XAI solutions where clinical decision support guides the choice of intervention by suggesting the pattern or drivers for clinical deterioration in the future.

In this study, we introduce a novel method to predict mental health by building machine learning models for a non-invasive wearable device equipped with Laser Doppler Flowmetry (LDF) and Fluorescence Spectroscopy (FS) sensors. Besides, we present the corresponding dataset to predict mental health, e.g. depression, anxiety, and stress levels via the DAS-21 questionnaire. To our best knowledge, this is the world's largest and the most generalized dataset ever collected for both LDF and FS studies. The device captures cutaneous blood microcirculation parameters, and wavelet analysis of the LDF signal extracts key rhythmic oscillations. The dataset, collected from 132 volunteers aged 18-94 from 19 countries, explores relationships between physiological features, demographics, lifestyle habits, and health conditions. We employed a variety of machine learning methods to classify stress detection, in which LightGBM is identified as the most effective model for stress detection, achieving a ROC AUC of 0.7168 and a PR AUC of 0.8852. In addition, we also incorporated Explainable Artificial Intelligence (XAI) techniques into our analysis to investigate deeper insights into the model's predictions. Our results suggest that females, younger individuals and those with a higher Body Mass Index (BMI) or heart rate have a greater likelihood of experiencing mental health conditions like stress and anxiety. All related code and data are published online: https://github.com/leduckhai/Wearable_LDF-FS.

Background: Type 1 diabetes (T1D) has seen a rapid evolution in management technology and forms a useful case study for the future management of other chronic conditions. Further development of this management technology requires an exploration of its real-world use and the potential of additional data streams. To facilitate this, we contribute the BrisT1D Dataset to the growing number of public T1D management datasets. The dataset was developed from a longitudinal study of 24 young adults in the UK who used a smartwatch alongside their usual T1D management. Findings: The BrisT1D dataset features both device data from the T1D management systems and smartwatches used by participants, as well as transcripts of monthly interviews and focus groups conducted during the study. The device data is provided in a processed state, for usability and more rapid analysis, and in a raw state, for in-depth exploration of novel insights captured in the study. Conclusions: This dataset has a range of potential applications. The quantitative elements can support blood glucose prediction, hypoglycaemia prediction, and closed-loop algorithm development. The qualitative elements enable the exploration of user experiences and opinions, as well as broader mixed-methods research into the role of smartwatches in T1D management.

The development of clinical natural language processing (NLP) systems is severely hampered by the sensitive nature of medical records, which restricts data sharing under stringent privacy regulations, particularly in France and the broader European Union. To address this gap, we introduce PARHAF, a large open-source corpus of clinical documents in French. PARHAF comprises expert-authored clinical reports describing realistic yet entirely fictitious patient cases, making it anonymous and freely shareable by design. The corpus was developed using a structured protocol that combined clinician expertise with epidemiological guidance from the French National Health Data System (SNDS), ensuring broad clinical coverage. A total of 104 medical residents across 18 specialties authored and peer-reviewed the reports following predefined clinical scenarios and document templates. The corpus contains 7394 clinical reports covering 5009 patient cases across a wide range of medical and surgical specialties. It includes a general-purpose component designed to approximate real-world hospitalization distributions, and four specialized subsets that support information-extraction use cases in oncology, infectious diseases, and diagnostic coding. Documents are released under a CC-BY open license, with a portion temporarily embargoed to enable future benchmarking under controlled conditions. PARHAF provides a valuable resource for training and evaluating French clinical language models in a fully privacy-preserving setting, and establishes a replicable methodology for building shareable synthetic clinical corpora in other languages and health systems.

Large language models offer transformative potential for healthcare, yet their responsible and equitable development depends critically on a deeper understanding of how training data characteristics influence model behavior, including the potential for bias. Current practices in dataset curation and bias assessment often lack the necessary transparency, creating an urgent need for comprehensive evaluation frameworks to foster trust and guide improvements. In this study, we present an in-depth analysis of potential downstream biases in clinical language models, with a focus on differential opioid prescription tendencies across diverse demographic groups, such as ethnicity, gender, and age. As part of this investigation, we introduce HC4: Healthcare Comprehensive Commons Corpus, a novel and extensively curated pretraining dataset exceeding 89 billion tokens. Our evaluation leverages both established general benchmarks and a novel, healthcare-specific methodology, offering crucial insights to support fairness and safety in clinical AI applications.

Electronic health records contain an enormous amount of valuable information, but many are recorded in free text. Information extraction is the strategy to transform the sequence of characters into structured data, which can be employed for secondary analysis. However, the traditional information extraction components, such as named entity recognition and relation extraction, require annotated data to optimize the model parameters, which has become one of the major bottlenecks in building information extraction systems. With the large language models achieving good performances on various downstream NLP tasks without parameter tuning, it becomes possible to use large language models for zero-shot information extraction. In this study, we aim to explore whether the most popular large language model, ChatGPT, can extract useful information from the radiological reports. We first design the prompt template for the interested information in the CT reports. Then, we generate the prompts by combining the prompt template with the CT reports as the inputs of ChatGPT to obtain the responses. A post-processing module is developed to transform the responses into structured extraction results. We conducted the experiments with 847 CT reports collected from Peking University Cancer Hospital. The experimental results indicate that ChatGPT can achieve competitive performances for some extraction tasks compared with the baseline information extraction system, but some limitations need to be further improved.

Since the COVID-19 pandemic, clinicians have seen a large and sustained influx in patient portal messages, significantly contributing to clinician burnout. To the best of our knowledge, there are no large-scale public patient portal messages corpora researchers can use to build tools to optimize clinician portal workflows. Informed by our ongoing work with a regional hospital, this study introduces an LLM-powered framework for configurable and realistic patient portal message generation. Our approach leverages few-shot grounded text generation, requiring only a small number of de-identified patient portal messages to help LLMs better match the true style and tone of real data. Clinical experts in our team deem this framework as HIPAA-friendly, unlike existing privacy-preserving approaches to synthetic text generation which cannot guarantee all sensitive attributes will be protected. Through extensive quantitative and human evaluation, we show that our framework produces data of higher quality than comparable generation methods as well as all related datasets. We believe this work provides a path forward for (i) the release of large-scale synthetic patient message datasets that are stylistically similar to ground-truth samples and (ii) HIPAA-friendly data generation which requires minimal human de-identification efforts.

Clinical question answering over electronic health records (EHRs) can help clinicians and patients access relevant medical information more efficiently. However, many recent approaches rely on large cloud-based models, which are difficult to deploy in clinical environments due to privacy constraints and computational requirements. In this work, we investigate how far grounded EHR question answering can be pushed when restricted to a single notebook. We participate in all four subtasks of the ArchEHR-QA 2026 shared task and evaluate several approaches designed to run on commodity hardware. All experiments are conducted locally without external APIs or cloud infrastructure. Our results show that such systems can achieve competitive performance on the shared task leaderboards. In particular, our submissions perform above average in two subtasks, and we observe that smaller models can approach the performance of much larger systems when properly configured. These findings suggest that privacy-preserving EHR QA systems running fully locally are feasible with current models and commodity hardware. The source code is available at https://github.com/ibrahimey/ArchEHR-QA-2026.

The COVID-19 pandemic has accentuated socioeconomic disparities across various racial and ethnic groups in the United States. While previous studies have utilized traditional survey methods like the Household Pulse Survey (HPS) to elucidate these disparities, this paper explores the role of social media platforms in both highlighting and addressing these challenges. Drawing from real-time data sourced from Twitter, we analyzed language patterns related to four major types of adverse experiences: loss of employment income (LI), food scarcity (FS), housing insecurity (HI), and unmet needs for mental health services (UM). We first formulate a sparsity optimization problem that extracts low-level language features from social media data sources. Second, we propose novel constraints on feature similarity exploiting prior knowledge about the similarity of the language patterns among the adverse experiences. The proposed problem is challenging to solve due to the non-convexity objective and non-smoothness penalties. We develop an algorithm based on the alternating direction method of multipliers (ADMM) framework to solve the proposed formulation. Extensive experiments and comparisons to other models on real-world social media and the detection of adverse experiences justify the efficacy of our model.

In recent years, the intersection of Natural Language Processing (NLP) and public health has opened innovative pathways for investigating various domains, including chronic pain in textual datasets. Despite the promise of NLP in chronic pain, the literature is dispersed across various disciplines, and there is a need to consolidate existing knowledge, identify knowledge gaps in the literature, and inform future research directions in this emerging field. This review aims to investigate the state of the research on NLP-based interventions designed for chronic pain research. A search strategy was formulated and executed across PubMed, Web of Science, IEEE Xplore, Scopus, and ACL Anthology to find studies published in English between 2014 and 2024. After screening 132 papers, 26 studies were included in the final review. Key findings from this review underscore the significant potential of NLP techniques to address pressing challenges in chronic pain research. The past 10 years in this field have showcased the utilization of advanced methods (transformers like RoBERTa and BERT) achieving high-performance metrics (e.g., F1>0.8) in classification tasks, while unsupervised approaches like Latent Dirichlet Allocation (LDA) and k-means clustering have proven effective for exploratory analyses. Results also reveal persistent challenges such as limited dataset diversity, inadequate sample sizes, and insufficient representation of underrepresented populations. Future research studies should explore multimodal data validation systems, context-aware mechanistic modeling, and the development of standardized evaluation metrics to enhance reproducibility and equity in chronic pain research.

To assess the effectiveness of any medical intervention, researchers must conduct a time-intensive and highly manual literature review. NLP systems can help to automate or assist in parts of this expensive process. In support of this goal, we release MS^2 (Multi-Document Summarization of Medical Studies), a dataset of over 470k documents and 20k summaries derived from the scientific literature. This dataset facilitates the development of systems that can assess and aggregate contradictory evidence across multiple studies, and is the first large-scale, publicly available multi-document summarization dataset in the biomedical domain. We experiment with a summarization system based on BART, with promising early results. We formulate our summarization inputs and targets in both free text and structured forms and modify a recently proposed metric to assess the quality of our system's generated summaries. Data and models are available at https://github.com/allenai/ms2

Healthcare data now span EHRs, medical imaging, genomics, and wearable sensors, but most diagnostic models still process these modalities in isolation. This limits their ability to capture early, cross-modal disease signatures. This paper introduces a multimodal foundation model built on a transformer architecture that integrates heterogeneous clinical data through modality-specific encoders and cross-modal attention. Each modality is mapped into a shared latent space and fused using multi-head attention with residual normalization. We implement the framework using a multimodal dataset that simulates early-stage disease patterns across EHR sequences, imaging patches, genomic profiles, and wearable signals, including missing-modality scenarios and label noise. The model is trained using supervised classification together with self-supervised reconstruction and contrastive alignment to improve robustness. Experimental evaluation demonstrates strong performance in early-detection settings, with stable classification metrics, reliable uncertainty estimates, and interpretable attention patterns. The approach moves toward a flexible, pretrain-and-fine-tune foundation model that supports precision diagnostics, handles incomplete inputs, and improves early disease detection across oncology, cardiology, and neurology applications.

A promising application of AI to healthcare is the retrieval of information from electronic health records (EHRs), e.g. to aid clinicians in finding relevant information for a consultation or to recruit suitable patients for a study. This requires search capabilities far beyond simple string matching, including the retrieval of concepts (diagnoses, symptoms, medications, etc.) related to the one in question. The suitability of AI methods for such applications is tested by predicting the relatedness of concepts with known relatedness scores. However, all existing biomedical concept relatedness datasets are notoriously small and consist of hand-picked concept pairs. We open-source a novel concept relatedness benchmark overcoming these issues: it is six times larger than existing datasets and concept pairs are chosen based on co-occurrence in EHRs, ensuring their relevance for the application of interest. We present an in-depth analysis of our new dataset and compare it to existing ones, highlighting that it is not only larger but also complements existing datasets in terms of the types of concepts included. Initial experiments with state-of-the-art embedding methods show that our dataset is a challenging new benchmark for testing concept relatedness models.