Abstract:Background: Recent advancements in large language models (LLMs) offer potential benefits in healthcare, particularly in processing extensive patient records. However, existing benchmarks do not fully assess LLMs' capability in handling real-world, lengthy clinical data. Methods: We present the LongHealth benchmark, comprising 20 detailed fictional patient cases across various diseases, with each case containing 5,090 to 6,754 words. The benchmark challenges LLMs with 400 multiple-choice questions in three categories: information extraction, negation, and sorting, challenging LLMs to extract and interpret information from large clinical documents. Results: We evaluated nine open-source LLMs with a minimum of 16,000 tokens and also included OpenAI's proprietary and cost-efficient GPT-3.5 Turbo for comparison. The highest accuracy was observed for Mixtral-8x7B-Instruct-v0.1, particularly in tasks focused on information retrieval from single and multiple patient documents. However, all models struggled significantly in tasks requiring the identification of missing information, highlighting a critical area for improvement in clinical data interpretation. Conclusion: While LLMs show considerable potential for processing long clinical documents, their current accuracy levels are insufficient for reliable clinical use, especially in scenarios requiring the identification of missing information. The LongHealth benchmark provides a more realistic assessment of LLMs in a healthcare setting and highlights the need for further model refinement for safe and effective clinical application. We make the benchmark and evaluation code publicly available.
Abstract:As large language models (LLMs) like OpenAI's GPT series continue to make strides, we witness the emergence of artificial intelligence applications in an ever-expanding range of fields. In medicine, these LLMs hold considerable promise for improving medical workflows, diagnostics, patient care, and education. Yet, there is an urgent need for open-source models that can be deployed on-premises to safeguard patient privacy. In our work, we present an innovative dataset consisting of over 160,000 entries, specifically crafted to fine-tune LLMs for effective medical applications. We investigate the impact of fine-tuning these datasets on publicly accessible pre-trained LLMs, and subsequently, we juxtapose the performance of pre-trained-only models against the fine-tuned models concerning the examinations that future medical doctors must pass to achieve certification.
Abstract:This paper presents medBERTde, a pre-trained German BERT model specifically designed for the German medical domain. The model has been trained on a large corpus of 4.7 Million German medical documents and has been shown to achieve new state-of-the-art performance on eight different medical benchmarks covering a wide range of disciplines and medical document types. In addition to evaluating the overall performance of the model, this paper also conducts a more in-depth analysis of its capabilities. We investigate the impact of data deduplication on the model's performance, as well as the potential benefits of using more efficient tokenization methods. Our results indicate that domain-specific models such as medBERTde are particularly useful for longer texts, and that deduplication of training data does not necessarily lead to improved performance. Furthermore, we found that efficient tokenization plays only a minor role in improving model performance, and attribute most of the improved performance to the large amount of training data. To encourage further research, the pre-trained model weights and new benchmarks based on radiological data are made publicly available for use by the scientific community.
Abstract:The use of deep neural models for diagnosis prediction from clinical text has shown promising results. However, in clinical practice such models must not only be accurate, but provide doctors with interpretable and helpful results. We introduce ProtoPatient, a novel method based on prototypical networks and label-wise attention with both of these abilities. ProtoPatient makes predictions based on parts of the text that are similar to prototypical patients - providing justifications that doctors understand. We evaluate the model on two publicly available clinical datasets and show that it outperforms existing baselines. Quantitative and qualitative evaluations with medical doctors further demonstrate that the model provides valuable explanations for clinical decision support.
Abstract:Clinical phenotyping enables the automatic extraction of clinical conditions from patient records, which can be beneficial to doctors and clinics worldwide. However, current state-of-the-art models are mostly applicable to clinical notes written in English. We therefore investigate cross-lingual knowledge transfer strategies to execute this task for clinics that do not use the English language and have a small amount of in-domain data available. We evaluate these strategies for a Greek and a Spanish clinic leveraging clinical notes from different clinical domains such as cardiology, oncology and the ICU. Our results reveal two strategies that outperform the state-of-the-art: Translation-based methods in combination with domain-specific encoders and cross-lingual encoders plus adapters. We find that these strategies perform especially well for classifying rare phenotypes and we advise on which method to prefer in which situation. Our results show that using multilingual data overall improves clinical phenotyping models and can compensate for data sparseness.
Abstract:Decision support systems based on clinical notes have the potential to improve patient care by pointing doctors towards overseen risks. Predicting a patient's outcome is an essential part of such systems, for which the use of deep neural networks has shown promising results. However, the patterns learned by these networks are mostly opaque and previous work revealed flaws regarding the reproduction of unintended biases. We thus introduce an extendable testing framework that evaluates the behavior of clinical outcome models regarding changes of the input. The framework helps to understand learned patterns and their influence on model decisions. In this work, we apply it to analyse the change in behavior with regard to the patient characteristics gender, age and ethnicity. Our evaluation of three current clinical NLP models demonstrates the concrete effects of these characteristics on the models' decisions. They show that model behavior varies drastically even when fine-tuned on the same data and that allegedly best-performing models have not always learned the most medically plausible patterns.
Abstract:Retrieving answer passages from long documents is a complex task requiring semantic understanding of both discourse and document context. We approach this challenge specifically in a clinical scenario, where doctors retrieve cohorts of patients based on diagnoses and other latent medical aspects. We introduce CAPR, a rule-based self-supervision objective for training Transformer language models for domain-specific passage matching. In addition, we contribute a novel retrieval dataset based on clinical notes to simulate this scenario on a large corpus of clinical notes. We apply our objective in four Transformer-based architectures: Contextual Document Vectors, Bi-, Poly- and Cross-encoders. From our extensive evaluation on MIMIC-III and three other healthcare datasets, we report that CAPR outperforms strong baselines in the retrieval of domain-specific passages and effectively generalizes across rule-based and human-labeled passages. This makes the model powerful especially in zero-shot scenarios where only limited training data is available.
Abstract:Outcome prediction from clinical text can prevent doctors from overlooking possible risks and help hospitals to plan capacities. We simulate patients at admission time, when decision support can be especially valuable, and contribute a novel admission to discharge task with four common outcome prediction targets: Diagnoses at discharge, procedures performed, in-hospital mortality and length-of-stay prediction. The ideal system should infer outcomes based on symptoms, pre-conditions and risk factors of a patient. We evaluate the effectiveness of language models to handle this scenario and propose clinical outcome pre-training to integrate knowledge about patient outcomes from multiple public sources. We further present a simple method to incorporate ICD code hierarchy into the models. We show that our approach improves performance on the outcome tasks against several baselines. A detailed analysis reveals further strengths of the model, including transferability, but also weaknesses such as handling of vital values and inconsistencies in the underlying data.
Abstract:Explainability and interpretability are two important concepts, the absence of which can and should impede the application of well-performing neural networks to real-world problems. At the same time, they are difficult to incorporate into the large, black-box models that achieve state-of-the-art results in a multitude of NLP tasks. Bidirectional Encoder Representations from Transformers (BERT) is one such black-box model. It has become a staple architecture to solve many different NLP tasks and has inspired a number of related Transformer models. Understanding how these models draw conclusions is crucial for both their improvement and application. We contribute to this challenge by presenting VisBERT, a tool for visualizing the contextual token representations within BERT for the task of (multi-hop) Question Answering. Instead of analyzing attention weights, we focus on the hidden states resulting from each encoder block within the BERT model. This way we can observe how the semantic representations are transformed throughout the layers of the model. VisBERT enables users to get insights about the model's internal state and to explore its inference steps or potential shortcomings. The tool allows us to identify distinct phases in BERT's transformations that are similar to a traditional NLP pipeline and offer insights during failed predictions.
Abstract:We present Contextual Discourse Vectors (CDV), a distributed document representation for efficient answer retrieval from long healthcare documents. Our approach is based on structured query tuples of entities and aspects from free text and medical taxonomies. Our model leverages a dual encoder architecture with hierarchical LSTM layers and multi-task training to encode the position of clinical entities and aspects alongside the document discourse. We use our continuous representations to resolve queries with short latency using approximate nearest neighbor search on sentence level. We apply the CDV model for retrieving coherent answer passages from nine English public health resources from the Web, addressing both patients and medical professionals. Because there is no end-to-end training data available for all application scenarios, we train our model with self-supervised data from Wikipedia. We show that our generalized model significantly outperforms several state-of-the-art baselines for healthcare passage ranking and is able to adapt to heterogeneous domains without additional fine-tuning.