Andrew Wen

Qiuhao Lu, Rui Li, Andrew Wen et al.

Large Language Models (LLMs) have revolutionized various sectors, including healthcare where they are employed in diverse applications. Their utility is particularly significant in the context of rare diseases, where data scarcity, complexity, and specificity pose considerable challenges. In the clinical domain, Named Entity Recognition (NER) stands out as an essential task and it plays a crucial role in extracting relevant information from clinical texts. Despite the promise of LLMs, current research mostly concentrates on document-level NER, identifying entities in a more general context across entire documents, without extracting their precise location. Additionally, efforts have been directed towards adapting ChatGPT for token-level NER. However, there is a significant research gap when it comes to employing token-level NER for clinical texts, especially with the use of local open-source LLMs. This study aims to bridge this gap by investigating the effectiveness of both proprietary and local LLMs in token-level clinical NER. Essentially, we delve into the capabilities of these models through a series of experiments involving zero-shot prompting, few-shot prompting, retrieval-augmented generation (RAG), and instruction-fine-tuning. Our exploration reveals the inherent challenges LLMs face in token-level NER, particularly in the context of rare diseases, and suggests possible improvements for their application in healthcare. This research contributes to narrowing a significant gap in healthcare informatics and offers insights that could lead to a more refined application of LLMs in the healthcare sector.

Kurt Miller, Qiuhao Lu, William Hersh et al.

Clinical document metadata, such as document type, structure, author role, medical specialty, and encounter setting, is essential for accurate interpretation of information captured in clinical documents. However, vast documentation heterogeneity and drift over time challenge harmonization of document metadata. Automated extraction methods have emerged to coalesce metadata from disparate practices into target schema. This scoping review aims to catalog research on clinical document metadata extraction, identify methodological trends and applications, and highlight gaps. We followed the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines to identify articles that perform clinical document metadata extraction. We initially found and screened 266 articles published between January 2011 and August 2025, then comprehensively reviewed 67 we deemed relevant to our study. Among the articles included, 45 were methodological, 17 used document metadata as features in a downstream application, and 5 analyzed document metadata composition. We observe myriad purposes for methodological study and application types. Available labelled public data remains sparse except for structural section datasets. Methods for extracting document metadata have progressed from largely rule-based and traditional machine learning with ample feature engineering to transformer-based architectures with minimal feature engineering. The emergence of large language models has enabled broader exploration of generalizability across tasks and datasets, allowing the possibility of advanced clinical text processing systems. We anticipate that research will continue to expand into richer document metadata representations and integrate further into clinical applications and workflows.

Sijia Liu, Andrew Wen, Liwei Wang et al.

While we pay attention to the latest advances in clinical natural language processing (NLP), we can notice some resistance in the clinical and translational research community to adopt NLP models due to limited transparency, interpretability, and usability. In this study, we proposed an open natural language processing development framework. We evaluated it through the implementation of NLP algorithms for the National COVID Cohort Collaborative (N3C). Based on the interests in information extraction from COVID-19 related clinical notes, our work includes 1) an open data annotation process using COVID-19 signs and symptoms as the use case, 2) a community-driven ruleset composing platform, and 3) a synthetic text data generation workflow to generate texts for information extraction tasks without involving human subjects. The corpora were derived from texts from three different institutions (Mayo Clinic, University of Kentucky, University of Minnesota). The gold standard annotations were tested with a single institution's (Mayo) ruleset. This resulted in performances of 0.876, 0.706, and 0.694 in F-scores for Mayo, Minnesota, and Kentucky test datasets, respectively. The study as a consortium effort of the N3C NLP subgroup demonstrates the feasibility of creating a federated NLP algorithm development and benchmarking platform to enhance multi-institution clinical NLP study and adoption. Although we use COVID-19 as a use case in this effort, our framework is general enough to be applied to other domains of interest in clinical NLP.

David Oniani, Chen Wang, Yiqing Zhao et al.

Cancer is responsible for millions of deaths worldwide every year. Although significant progress has been achieved in cancer medicine, many issues remain to be addressed for improving cancer therapy. Appropriate cancer patient stratification is the prerequisite for selecting appropriate treatment plan, as cancer patients are of known heterogeneous genetic make-ups and phenotypic differences. In this study, built upon deep phenotypic characterizations extractable from Mayo Clinic electronic health records (EHRs) and genetic test reports for a collection of cancer patients, we developed a system leveraging a joint of phenotypic and genetic features for cancer patient subgrouping. The workflow is roughly divided into three parts: feature preprocessing, cancer patient classification, and cancer patient clustering based. In feature preprocessing step, we performed filtering, retaining the most relevant features. In cancer patient classification, we utilized joint categorical features to build a patient-feature matrix and applied nine different machine learning models, Random Forests (RF), Decision Tree (DT), Support Vector Machine (SVM), Naive Bayes (NB), Logistic Regression (LR), Multilayer Perceptron (MLP), Gradient Boosting (GB), Convolutional Neural Network (CNN), and Feedforward Neural Network (FNN), for classification purposes. Finally, in the cancer patient clustering step, we leveraged joint embeddings features and patient-feature associations to build an undirected feature graph and then trained the cancer feature node embeddings.

David Oniani, Chen Wang, Yiqing Zhao et al.

Cancer is responsible for millions of deaths worldwide every year. Although significant progress hasbeen achieved in cancer medicine, many issues remain to be addressed for improving cancer therapy.Appropriate cancer patient stratification is the prerequisite for selecting appropriate treatment plan, ascancer patients are of known heterogeneous genetic make-ups and phenotypic differences. In thisstudy, built upon deep phenotypic characterizations extractable from Mayo Clinic electronic healthrecords (EHRs) and genetic test reports for a collection of cancer patients, we evaluated variousgraph neural networks (GNNs) leveraging a joint of phenotypic and genetic features for cancer typeclassification. Models were applied and fine-tuned on the Mayo Clinic cancer disease dataset. Theassessment was done through the reported accuracy, precision, recall, and F1 values as well as throughF1 scores based on the disease class. Per our evaluation results, GNNs on average outperformed thebaseline models with mean statistics always being higher that those of the baseline models (0.849 vs0.772 for accuracy, 0.858 vs 0.794 for precision, 0.843 vs 0.759 for recall, and 0.843 vs 0.855 for F1score). Among GNNs, ChebNet, GraphSAGE, and TAGCN showed the best performance, while GATshowed the worst. We applied and compared eight GNN models including AGNN, ChebNet, GAT,GCN, GIN, GraphSAGE, SGC, and TAGCN on the Mayo Clinic cancer disease dataset and assessedtheir performance as well as compared them with each other and with more conventional machinelearning models such as decision tree, gradient boosting, multi-layer perceptron, naive bayes, andrandom forest which we used as the baselines.

Sunyang Fu, David Chen, Huan He et al.

Background Concept extraction, a subdomain of natural language processing (NLP) with a focus on extracting concepts of interest, has been adopted to computationally extract clinical information from text for a wide range of applications ranging from clinical decision support to care quality improvement. Objectives In this literature review, we provide a methodology review of clinical concept extraction, aiming to catalog development processes, available methods and tools, and specific considerations when developing clinical concept extraction applications. Methods Based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, a literature search was conducted for retrieving EHR-based information extraction articles written in English and published from January 2009 through June 2019 from Ovid MEDLINE In-Process & Other Non-Indexed Citations, Ovid MEDLINE, Ovid EMBASE, Scopus, Web of Science, and the ACM Digital Library. Results A total of 6,686 publications were retrieved. After title and abstract screening, 228 publications were selected. The methods used for developing clinical concept extraction applications were discussed in this review.

Jun Jiang, Shumao Pang, Xia Zhao et al.

Text classification is a fundamental task for text data mining. In order to train a generalizable model, a large volume of text must be collected. To address data insufficiency, cross-lingual data may occasionally be necessary. Cross-lingual data sources may however suffer from data incompatibility, as text written in different languages can hold distinct word sequences and semantic patterns. Machine translation and word embedding alignment provide an effective way to transform and combine data for cross-lingual data training. To the best of our knowledge, there has been little work done on evaluating how the methodology used to conduct semantic space transformation and data combination affects the performance of classification models trained from cross-lingual resources. In this paper, we systematically evaluated the performance of two commonly used CNN (Convolutional Neural Network) and RNN (Recurrent Neural Network) text classifiers with differing data transformation and combination strategies. Monolingual models were trained from English and French alongside their translated and aligned embeddings. Our results suggested that semantic space transformation may conditionally promote the performance of monolingual models. Bilingual models were trained from a combination of both English and French. Our results indicate that a cross-lingual classification model can significantly benefit from cross-lingual data by learning from translated or aligned embedding spaces.

Sijia Liu, Yanshan Wang, Andrew Wen et al.

Background: Widespread adoption of electronic health records (EHRs) has enabled secondary use of EHR data for clinical research and healthcare delivery. Natural language processing (NLP) techniques have shown promise in their capability to extract the embedded information in unstructured clinical data, and information retrieval (IR) techniques provide flexible and scalable solutions that can augment the NLP systems for retrieving and ranking relevant records. Methods: In this paper, we present the implementation of Cohort Retrieval Enhanced by Analysis of Text from EHRs (CREATE), a cohort retrieval system that can execute textual cohort selection queries on both structured and unstructured EHR data. CREATE is a proof-of-concept system that leverages a combination of structured queries and IR techniques on NLP results to improve cohort retrieval performance while adopting the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM) to enhance model portability. The NLP component empowered by cTAKES is used to extract CDM concepts from textual queries. We design a hierarchical index in Elasticsearch to support CDM concept search utilizing IR techniques and frameworks. Results: Our case study on 5 cohort identification queries evaluated using the IR metric, P@5 (Precision at 5) at both the patient-level and document-level, demonstrates that CREATE achieves an average P@5 of 0.90, which outperforms systems using only structured data or only unstructured data with average P@5s of 0.54 and 0.74, respectively.