Dmitriy Dligach

Yanjun Gao, Dmitriy Dligach, Timothy Miller et al. · harvard

Automatically summarizing patients' main problems from daily progress notes using natural language processing methods helps to battle against information and cognitive overload in hospital settings and potentially assists providers with computerized diagnostic decision support. Problem list summarization requires a model to understand, abstract, and generate clinical documentation. In this work, we propose a new NLP task that aims to generate a list of problems in a patient's daily care plan using input from the provider's progress notes during hospitalization. We investigate the performance of T5 and BART, two state-of-the-art seq2seq transformer architectures, in solving this problem. We provide a corpus built on top of progress notes from publicly available electronic health record progress notes in the Medical Information Mart for Intensive Care (MIMIC)-III. T5 and BART are trained on general domain text, and we experiment with a data augmentation method and a domain adaptation pre-training method to increase exposure to medical vocabulary and knowledge. Evaluation methods include ROUGE, BERTScore, cosine similarity on sentence embedding, and F-score on medical concepts. Results show that T5 with domain adaptive pre-training achieves significant performance gains compared to a rule-based system and general domain pre-trained language models, indicating a promising direction for tackling the problem summarization task.

Yanjun Gao, Dmitriy Dligach, Timothy Miller et al. · harvard

The meaningful use of electronic health records (EHR) continues to progress in the digital era with clinical decision support systems augmented by artificial intelligence. A priority in improving provider experience is to overcome information overload and reduce the cognitive burden so fewer medical errors and cognitive biases are introduced during patient care. One major type of medical error is diagnostic error due to systematic or predictable errors in judgment that rely on heuristics. The potential for clinical natural language processing (cNLP) to model diagnostic reasoning in humans with forward reasoning from data to diagnosis and potentially reduce the cognitive burden and medical error has not been investigated. Existing tasks to advance the science in cNLP have largely focused on information extraction and named entity recognition through classification tasks. We introduce a novel suite of tasks coined as Diagnostic Reasoning Benchmarks, DR.BENCH, as a new benchmark for developing and evaluating cNLP models with clinical diagnostic reasoning ability. The suite includes six tasks from ten publicly available datasets addressing clinical text understanding, medical knowledge reasoning, and diagnosis generation. DR.BENCH is the first clinical suite of tasks designed to be a natural language generation framework to evaluate pre-trained language models. Experiments with state-of-the-art pre-trained generative language models using large general domain models and models that were continually trained on a medical corpus demonstrate opportunities for improvement when evaluated in DR. BENCH. We share DR. BENCH as a publicly available GitLab repository with a systematic approach to load and evaluate models for the cNLP community.

Yanjun Gao, Dmitriy Dligach, Timothy Miller et al. · harvard

Applying methods in natural language processing on electronic health records (EHR) data is a growing field. Existing corpus and annotation focus on modeling textual features and relation prediction. However, there is a paucity of annotated corpus built to model clinical diagnostic thinking, a process involving text understanding, domain knowledge abstraction and reasoning. This work introduces a hierarchical annotation schema with three stages to address clinical text understanding, clinical reasoning, and summarization. We created an annotated corpus based on an extensive collection of publicly available daily progress notes, a type of EHR documentation that is collected in time series in a problem-oriented format. The conventional format for a progress note follows a Subjective, Objective, Assessment and Plan heading (SOAP). We also define a new suite of tasks, Progress Note Understanding, with three tasks utilizing the three annotation stages. The novel suite of tasks was designed to train and evaluate future NLP models for clinical text understanding, clinical knowledge representation, inference, and summarization.

Yanjun Gao, Dmitriy Dligach, Timothy Miller et al. · harvard

The BioNLP Workshop 2023 initiated the launch of a shared task on Problem List Summarization (ProbSum) in January 2023. The aim of this shared task is to attract future research efforts in building NLP models for real-world diagnostic decision support applications, where a system generating relevant and accurate diagnoses will augment the healthcare providers decision-making process and improve the quality of care for patients. The goal for participants is to develop models that generated a list of diagnoses and problems using input from the daily care notes collected from the hospitalization of critically ill patients. Eight teams submitted their final systems to the shared task leaderboard. In this paper, we describe the tasks, datasets, evaluation metrics, and baseline systems. Additionally, the techniques and results of the evaluation of the different approaches tried by the participating teams are summarized.

Brihat Sharma, Yanjun Gao, Timothy Miller et al. · harvard

Generative artificial intelligence (AI) is a promising direction for augmenting clinical diagnostic decision support and reducing diagnostic errors, a leading contributor to medical errors. To further the development of clinical AI systems, the Diagnostic Reasoning Benchmark (DR.BENCH) was introduced as a comprehensive generative AI framework, comprised of six tasks representing key components in clinical reasoning. We present a comparative analysis of in-domain versus out-of-domain language models as well as multi-task versus single task training with a focus on the problem summarization task in DR.BENCH (Gao et al., 2023). We demonstrate that a multi-task, clinically trained language model outperforms its general domain counterpart by a large margin, establishing a new state-of-the-art performance, with a ROUGE-L score of 28.55. This research underscores the value of domain-specific training for optimizing clinical diagnostic reasoning tasks.

Yanjun Gao, Dmitriy Dligach, Timothy Miller et al. · harvard

Daily progress notes are common types in the electronic health record (EHR) where healthcare providers document the patient's daily progress and treatment plans. The EHR is designed to document all the care provided to patients, but it also enables note bloat with extraneous information that distracts from the diagnoses and treatment plans. Applications of natural language processing (NLP) in the EHR is a growing field with the majority of methods in information extraction. Few tasks use NLP methods for downstream diagnostic decision support. We introduced the 2022 National NLP Clinical Challenge (N2C2) Track 3: Progress Note Understanding - Assessment and Plan Reasoning as one step towards a new suite of tasks. The Assessment and Plan Reasoning task focuses on the most critical components of progress notes, Assessment and Plan subsections where health problems and diagnoses are contained. The goal of the task was to develop and evaluate NLP systems that automatically predict causal relations between the overall status of the patient contained in the Assessment section and its relation to each component of the Plan section which contains the diagnoses and treatment plans. The goal of the task was to identify and prioritize diagnoses as the first steps in diagnostic decision support to find the most relevant information in long documents like daily progress notes. We present the results of 2022 n2c2 Track 3 and provide a description of the data, evaluation, participation and system performance.

Yanjun Gao, Ruizhe Li, Emma Croxford et al.

Electronic Health Records (EHRs) and routine documentation practices play a vital role in patients' daily care, providing a holistic record of health, diagnoses, and treatment. However, complex and verbose EHR narratives overload healthcare providers, risking diagnostic inaccuracies. While Large Language Models (LLMs) have showcased their potential in diverse language tasks, their application in the healthcare arena needs to ensure the minimization of diagnostic errors and the prevention of patient harm. In this paper, we outline an innovative approach for augmenting the proficiency of LLMs in the realm of automated diagnosis generation, achieved through the incorporation of a medical knowledge graph (KG) and a novel graph model: Dr.Knows, inspired by the clinical diagnostic reasoning process. We derive the KG from the National Library of Medicine's Unified Medical Language System (UMLS), a robust repository of biomedical knowledge. Our method negates the need for pre-training and instead leverages the KG as an auxiliary instrument aiding in the interpretation and summarization of complex medical concepts. Using real-world hospital datasets, our experimental results demonstrate that the proposed approach of combining LLMs with KG has the potential to improve the accuracy of automated diagnosis generation. More importantly, our approach offers an explainable diagnostic pathway, edging us closer to the realization of AI-augmented diagnostic decision support systems.

Skatje Myers, Timothy A. Miller, Yanjun Gao et al.

Objective: Applying large language models (LLMs) to the clinical domain is challenging due to the context-heavy nature of processing medical records. Retrieval-augmented generation (RAG) offers a solution by facilitating reasoning over large text sources. However, there are many parameters to optimize in just the retrieval system alone. This paper presents an ablation study exploring how different embedding models and pooling methods affect information retrieval for the clinical domain. Methods: Evaluating on three retrieval tasks on two electronic health record (EHR) data sources, we compared seven models, including medical- and general-domain models, specialized encoder embedding models, and off-the-shelf decoder LLMs. We also examine the choice of embedding pooling strategy for each model, independently on the query and the text to retrieve. Results: We found that the choice of embedding model significantly impacts retrieval performance, with BGE, a comparatively small general-domain model, consistently outperforming all others, including medical-specific models. However, our findings also revealed substantial variability across datasets and query text phrasings. We also determined the best pooling methods for each of these models to guide future design of retrieval systems. Discussion: The choice of embedding model, pooling strategy, and query formulation can significantly impact retrieval performance and the performance of these models on other public benchmarks does not necessarily transfer to new domains. Further studies such as this one are vital for guiding empirically-grounded development of retrieval frameworks, such as in the context of RAG, for the clinical domain.

Yanjun Gao, Skatje Myers, Shan Chen et al.

The introduction of Large Language Models (LLMs) has advanced data representation and analysis, bringing significant progress in their use for medical questions and answering. Despite these advancements, integrating tabular data, especially numerical data pivotal in clinical contexts, into LLM paradigms has not been thoroughly explored. In this study, we examine the effectiveness of vector representations from last hidden states of LLMs for medical diagnostics and prognostics using electronic health record (EHR) data. We compare the performance of these embeddings with that of raw numerical EHR data when used as feature inputs to traditional machine learning (ML) algorithms that excel at tabular data learning, such as eXtreme Gradient Boosting. We focus on instruction-tuned LLMs in a zero-shot setting to represent abnormal physiological data and evaluating their utilities as feature extractors to enhance ML classifiers for predicting diagnoses, length of stay, and mortality. Furthermore, we examine prompt engineering techniques on zero-shot and few-shot LLM embeddings to measure their impact comprehensively. Although findings suggest the raw data features still prevails in medical ML tasks, zero-shot LLM embeddings demonstrate competitive results, suggesting a promising avenue for future research in medical applications.

He Cheng, Yifu Wu, Saksham Khatwani et al.

Knowledge graphs (KGs) are increasingly integrated with large language models (LLMs) to provide structured, verifiable reasoning. A core operation in this integration is multi-hop retrieval, yet existing systems struggle to balance efficiency, scalability, and interpretability. We introduce LogosKG, a novel, hardware-aligned framework that enables scalable and interpretable k-hop retrieval on large KGs by building on symbolic KG formulations and executing traversal as hardware-efficient operations over decomposed subject, object, and relation representations. To scale to billion-edge graphs, LogosKG integrates degree-aware partitioning, cross-graph routing, and on-demand caching. Experiments show substantial efficiency gains over CPU and GPU baselines without loss of retrieval fidelity. With proven performance in KG retrieval, a downstream two-round KG-LLM interaction demonstrates how LogosKG enables large-scale, evidence-grounded analysis of how KG topology, such as hop distribution and connectivity, shapes the alignment between structured biomedical knowledge and LLM diagnostic reasoning, thereby opening the door for next-generation KG-LLM integration. The source code is publicly available at https://github.com/LARK-NLP-Lab/LogosKG, and an online demo is available at https://lark-nlp-lab-logoskg.hf.space/.

WonJin Yoon, Kangyu Zhu, Ian Bulovic et al.

With the recent progress of Large Language Models (LLMs), there is a growing interest in applying these models to solve complex and challenging problems. Modern LLMs, capable of processing long contexts and generating verbalized explanations, offer significant potential in addressing real-world applications. However, a critical hurdle in deploying LLMs for practical decision-making is their inability to provide reliable, quantitative probabilities. While task-specific fine-tuning of LLMs using traditional discriminative objectives (similar to encoder-only models) can yield probability estimates, this often leads to catastrophic forgetting and linguistic collapse. Consequently, the model loses its ability to generate explanations, severely undermining its interpretability and usability. To address this challenge, we propose CLSGen, a novel LLM fine-tuning framework designed for binary classification tasks. The CLSGen framework encompasses a new model architecture, training methodology, and data construction strategy to enable robust probability estimation without sacrificing the model's inherent explanation-generation capabilities. Experimental results across multiple benchmark datasets demonstrate that models fine-tuned with CLSGen outperform existing baselines in classification metrics (AUROC and F1-score). Regarding explanation, the results showed strong alignment between predicted labels and generated justifications, as well as high readability.

Saksham Khatwani, He Cheng, Majid Afshar et al.

Large language models (LLMs) show promise for diagnostic reasoning but often lack reliable, knowledge grounded inference. Knowledge graphs (KGs), such as the Unified Medical Language System (UMLS), offer structured biomedical knowledge that can support trustworthy reasoning. Prior approaches typically integrate KGs via retrieval augmented generation or fine tuning, inserting KG content into prompts rather than enabling structured reasoning. We explore an alternative paradigm: treating the LLM as a reward model of KG reasoning paths, where the model learns to judge whether a candidate path leads to correct diagnosis for a given patient input. This approach is inspired by recent work that leverages reward training to enhance model reasoning abilities, and grounded in computational theory, which suggests that verifying a solution is often easier than generating one from scratch. It also parallels physicians' diagnostic assessment, where they judge which sequences of findings and intermediate conditions most plausibly support a diagnosis. We first systematically evaluate five task formulation for knowledge path judging and eight training paradigm. Second, we test whether the path judging abilities generalize to downstream diagnostic tasks, including diagnosis summarization and medical question answering. Experiments with three open source instruct-tuned LLMs reveal both promise and brittleness: while specific reward optimization and distillation lead to strong path-judging performance, the transferability to downstream tasks remain weak. Our finding provides the first systematic assessment of "reward model style" reasoning over clinical KGs, offering insights into how structured, reward-based supervision influences diagnostic reasoning in GenAI systems for healthcare.

Yanjun Gao, Skatje Myers, Shan Chen et al.

Large language models (LLMs) are being explored for diagnostic decision support, yet their ability to estimate pre-test probabilities, vital for clinical decision-making, remains limited. This study evaluates two LLMs, Mistral-7B and Llama3-70B, using structured electronic health record data on three diagnosis tasks. We examined three current methods of extracting LLM probability estimations and revealed their limitations. We aim to highlight the need for improved techniques in LLM confidence estimation.

Skatje Myers, Dmitriy Dligach, Timothy A. Miller et al.

Electronic health records (EHRs) are long, noisy, and often redundant, posing a major challenge for the clinicians who must navigate them. Large language models (LLMs) offer a promising solution for extracting and reasoning over this unstructured text, but the length of clinical notes often exceeds even state-of-the-art models' extended context windows. Retrieval-augmented generation (RAG) offers an alternative by retrieving task-relevant passages from across the entire EHR, potentially reducing the amount of required input tokens. In this work, we propose three clinical tasks designed to be replicable across health systems with minimal effort: 1) extracting imaging procedures, 2) generating timelines of antibiotic use, and 3) identifying key diagnoses. Using EHRs from actual hospitalized patients, we test three state-of-the-art LLMs with varying amounts of provided context, using either targeted text retrieval or the most recent clinical notes. We find that RAG closely matches or exceeds the performance of using recent notes, and approaches the performance of using the models' full context while requiring drastically fewer input tokens. Our results suggest that RAG remains a competitive and efficient approach even as newer models become capable of handling increasingly longer amounts of text.

Mingye Gao, Aman Varshney, Shan Chen et al.

Cancer clinical trials often face challenges in recruitment and engagement due to a lack of participant-facing informational and educational resources. This study investigated the potential of Large Language Models (LLMs), specifically GPT4, in generating patient-friendly educational content from clinical trial informed consent forms. Using data from ClinicalTrials.gov, we employed zero-shot learning for creating trial summaries and one-shot learning for developing multiple-choice questions, evaluating their effectiveness through patient surveys and crowdsourced annotation. Results showed that GPT4-generated summaries were both readable and comprehensive, and may improve patients' understanding and interest in clinical trials. The multiple-choice questions demonstrated high accuracy and agreement with crowdsourced annotators. For both resource types, hallucinations were identified that require ongoing human oversight. The findings demonstrate the potential of LLMs "out-of-the-box" to support the generation of clinical trial education materials with minimal trial-specific engineering, but implementation with a human-in-the-loop is still needed to avoid misinformation risks.

Shan Chen, Jack Gallifant, Marco Guevara et al.

Generative models have been showing potential for producing data in mass. This study explores the enhancement of clinical natural language processing performance by utilizing synthetic data generated from advanced language models. Promising results show feasible applications in such a high-stakes domain.

Yanjun Gao, Dmitriy Dligach, Leslie Christensen et al.

Objective: to provide a scoping review of papers on clinical natural language processing (NLP) tasks that use publicly available electronic health record data from a cohort of patients. Materials and Methods: We searched six databases, including biomedical research and computer science literature database. A round of title/abstract screening and full-text screening were conducted by two reviewers. Our method followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Results: A total of 35 papers with 47 clinical NLP tasks met inclusion criteria between 2007 and 2021. We categorized the tasks by the type of NLP problems, including name entity recognition, summarization, and other NLP tasks. Some tasks were introduced with a topic of clinical decision support applications, such as substance abuse, phenotyping, cohort selection for clinical trial. We summarized the tasks by publication and dataset information. Discussion: The breadth of clinical NLP tasks keeps growing as the field of NLP evolves with advancements in language systems. However, gaps exist in divergent interests between general domain NLP community and clinical informatics community, and in generalizability of the data sources. We also identified issues in data selection and preparation including the lack of time-sensitive data, and invalidity of problem size and evaluation. Conclusions: The existing clinical NLP tasks cover a wide range of topics and the field will continue to grow and attract more attention from both general domain NLP and clinical informatics community. We encourage future work to incorporate multi-disciplinary collaboration, reporting transparency, and standardization in data preparation.

Xin Su, Timothy Miller, Xiyu Ding et al.

Automatic phenotyping is a task of identifying cohorts of patients that match a predefined set of criteria. Phenotyping typically involves classifying long clinical documents that contain thousands of tokens. At the same time, recent state-of-art transformer-based pre-trained language models limit the input to a few hundred tokens (e.g. 512 tokens for BERT). We evaluate several strategies for incorporating pre-trained sentence encoders into document-level representations of clinical text, and find that hierarchical transformers without pre-training are competitive with task pre-trained models.

Dianbo Liu, Dmitriy Dligach, Timothy Miller

A large percentage of medical information is in unstructured text format in electronic medical record systems. Manual extraction of information from clinical notes is extremely time consuming. Natural language processing has been widely used in recent years for automatic information extraction from medical texts. However, algorithms trained on data from a single healthcare provider are not generalizable and error-prone due to the heterogeneity and uniqueness of medical documents. We develop a two-stage federated natural language processing method that enables utilization of clinical notes from different hospitals or clinics without moving the data, and demonstrate its performance using obesity and comorbities phenotyping as medical task. This approach not only improves the quality of a specific clinical task but also facilitates knowledge progression in the whole healthcare system, which is an essential part of learning health system. To the best of our knowledge, this is the first application of federated machine learning in clinical NLP.

Dmitriy Dligach, Timothy Miller

Mining electronic health records for patients who satisfy a set of predefined criteria is known in medical informatics as phenotyping. Phenotyping has numerous applications such as outcome prediction, clinical trial recruitment, and retrospective studies. Supervised machine learning for phenotyping typically relies on sparse patient representations such as bag-of-words. We consider an alternative that involves learning patient representations. We develop a neural network model for learning patient representations and show that the learned representations are general enough to obtain state-of-the-art performance on a standard comorbidity detection task.