A Multi-Center Study on the Adaptability of a Shared Foundation Model for Electronic Health Records

Foundation models hold promise for transforming AI in healthcare by providing modular components that are easily adaptable to downstream healthcare tasks, making AI development more scalable and cost-effective. Structured EHR foundation models, trained on coded medical records from millions of patients, demonstrated benefits including increased performance with fewer training labels, and improved robustness to distribution shifts. However, questions remain on the feasibility of sharing these models across different hospitals and their performance for local task adaptation. This multi-center study examined the adaptability of a recently released structured EHR foundation model ($FM_{SM}$), trained on longitudinal medical record data from 2.57M Stanford Medicine patients. Experiments were conducted using EHR data at The Hospital for Sick Children and MIMIC-IV. We assessed both adaptability via continued pretraining on local data, and task adaptability compared to baselines of training models from scratch at each site, including a local foundation model. We evaluated the performance of these models on 8 clinical prediction tasks. In both datasets, adapting the off-the-shelf $FM_{SM}$ matched the performance of GBM models locally trained on all data while providing a 13% improvement in settings with few task-specific training labels. With continued pretraining on local data, label efficiency substantially improved, such that $FM_{SM}$ required fewer than 1% of training examples to match the fully trained GBM's performance. Continued pretraining was also 60 to 90% more sample-efficient than training local foundation models from scratch. Our findings show that adapting shared EHR foundation models across hospitals provides improved prediction performance at less cost, underscoring the utility of base foundation models as modular components to streamline the development of healthcare AI.

INSPECT: A Multimodal Dataset for Pulmonary Embolism Diagnosis and Prognosis

Synthesizing information from multiple data sources plays a crucial role in the practice of modern medicine. Current applications of artificial intelligence in medicine often focus on single-modality data due to a lack of publicly available, multimodal medical datasets. To address this limitation, we introduce INSPECT, which contains de-identified longitudinal records from a large cohort of patients at risk for pulmonary embolism (PE), along with ground truth labels for multiple outcomes. INSPECT contains data from 19,402 patients, including CT images, radiology report impression sections, and structured electronic health record (EHR) data (i.e. demographics, diagnoses, procedures, vitals, and medications). Using INSPECT, we develop and release a benchmark for evaluating several baseline modeling approaches on a variety of important PE related tasks. We evaluate image-only, EHR-only, and multimodal fusion models. Trained models and the de-identified dataset are made available for non-commercial use under a data use agreement. To the best of our knowledge, INSPECT is the largest multimodal dataset integrating 3D medical imaging and EHR for reproducible methods evaluation and research.

MedAlign: A Clinician-Generated Dataset for Instruction Following with Electronic Medical Records

The ability of large language models (LLMs) to follow natural language instructions with human-level fluency suggests many opportunities in healthcare to reduce administrative burden and improve quality of care. However, evaluating LLMs on realistic text generation tasks for healthcare remains challenging. Existing question answering datasets for electronic health record (EHR) data fail to capture the complexity of information needs and documentation burdens experienced by clinicians. To address these challenges, we introduce MedAlign, a benchmark dataset of 983 natural language instructions for EHR data. MedAlign is curated by 15 clinicians (7 specialities), includes clinician-written reference responses for 303 instructions, and provides 276 longitudinal EHRs for grounding instruction-response pairs. We used MedAlign to evaluate 6 general domain LLMs, having clinicians rank the accuracy and quality of each LLM response. We found high error rates, ranging from 35% (GPT-4) to 68% (MPT-7B-Instruct), and an 8.3% drop in accuracy moving from 32k to 2k context lengths for GPT-4. Finally, we report correlations between clinician rankings and automated natural language generation metrics as a way to rank LLMs without human review. We make MedAlign available under a research data use agreement to enable LLM evaluations on tasks aligned with clinician needs and preferences.

EHRSHOT: An EHR Benchmark for Few-Shot Evaluation of Foundation Models

While the general machine learning (ML) community has benefited from public datasets, tasks, and models, the progress of ML in healthcare has been hampered by a lack of such shared assets. The success of foundation models creates new challenges for healthcare ML by requiring access to shared pretrained models to validate performance benefits. We help address these challenges through three contributions. First, we publish a new dataset, EHRSHOT, containing de-identified structured data from the electronic health records (EHRs) of 6,712 patients from Stanford Medicine. Unlike MIMIC-III/IV and other popular EHR datasets, EHRSHOT is longitudinal and not restricted to ICU/ED patients. Second, we publish the weights of a 141M parameter clinical foundation model pretrained on the structured EHR data of 2.57M patients. We are one of the first to fully release such a model for coded EHR data; in contrast, most prior models released for clinical data (e.g. GatorTron, ClinicalBERT) only work with unstructured text and cannot process the rich, structured data within an EHR. We provide an end-to-end pipeline for the community to validate and build upon its performance. Third, we define 15 few-shot clinical prediction tasks, enabling evaluation of foundation models on benefits such as sample efficiency and task adaption. The code to reproduce our results, as well as the model and dataset (via a research data use agreement), are available at our Github repo here: https://github.com/som-shahlab/ehrshot-benchmark

The Shaky Foundations of Clinical Foundation Models: A Survey of Large Language Models and Foundation Models for EMRs

The successes of foundation models such as ChatGPT and AlphaFold have spurred significant interest in building similar models for electronic medical records (EMRs) to improve patient care and hospital operations. However, recent hype has obscured critical gaps in our understanding of these models' capabilities. We review over 80 foundation models trained on non-imaging EMR data (i.e. clinical text and/or structured data) and create a taxonomy delineating their architectures, training data, and potential use cases. We find that most models are trained on small, narrowly-scoped clinical datasets (e.g. MIMIC-III) or broad, public biomedical corpora (e.g. PubMed) and are evaluated on tasks that do not provide meaningful insights on their usefulness to health systems. In light of these findings, we propose an improved evaluation framework for measuring the benefits of clinical foundation models that is more closely grounded to metrics that matter in healthcare.

Self-Supervised Time-to-Event Modeling with Structured Medical Records

Time-to-event models (also known as survival models) are used in medicine and other fields for estimating the probability distribution of the time until a particular event occurs. While providing many advantages over traditional classification models, such as naturally handling censoring, time-to-event models require more parameters and are challenging to learn in settings with limited labeled training data. High censoring rates, common in events with long time horizons, further limit available training data and exacerbate the risk of overfitting. Existing methods, such as proportional hazard or accelerated failure time-based approaches, employ distributional assumptions to reduce parameter size, but they are vulnerable to model misspecification. In this work, we address these challenges with MOTOR, a self-supervised model that leverages temporal structure found in large-scale collections of timestamped, but largely unlabeled events, typical of electronic health record data. MOTOR defines a time-to-event pretraining task that naturally captures the probability distribution of event times, making it well-suited to applications in medicine. After pretraining on 8,192 tasks auto-generated from 2.7M patients (2.4B clinical events), we evaluate the performance of our pretrained model after fine-tuning to unseen time-to-event tasks. MOTOR-derived models improve upon current state-of-the-art C statistic performance by 6.6% and decrease training time (in wall time) by up to 8.2 times. We further improve sample efficiency, with adapted models matching current state-of-the-art performance using 95% less training data.

Instability in clinical risk stratification models using deep learning

While it has been well known in the ML community that deep learning models suffer from instability, the consequences for healthcare deployments are under characterised. We study the stability of different model architectures trained on electronic health records, using a set of outpatient prediction tasks as a case study. We show that repeated training runs of the same deep learning model on the same training data can result in significantly different outcomes at a patient level even though global performance metrics remain stable. We propose two stability metrics for measuring the effect of randomness of model training, as well as mitigation strategies for improving model stability.

Trove: Ontology-driven weak supervision for medical entity classification

Motivation: Recognizing named entities (NER) and their associated attributes like negation are core tasks in natural language processing. However, manually labeling data for entity tasks is time consuming and expensive, creating barriers to using machine learning in new medical applications. Weakly supervised learning, which automatically builds imperfect training sets from low cost, less accurate labeling rules, offers a potential solution. Medical ontologies are compelling sources for generating labels, however combining multiple ontologies without ground truth data creates challenges due to label noise introduced by conflicting entity definitions. Key questions remain on the extent to which weakly supervised entity classification can be automated using ontologies, or how much additional task-specific rule engineering is required for state-of-the-art performance. Also unclear is how pre-trained language models, such as BioBERT, improve the ability to generalize from imperfectly labeled data. Results: We present Trove, a framework for weakly supervised entity classification using medical ontologies. We report state-of-the-art, weakly supervised performance on two NER benchmark datasets and establish new baselines for two entity classification tasks in clinical text. We perform within an average of 3.5 F1 points (4.2%) of NER classifiers trained with hand-labeled data. Automatically learning label source accuracies to correct for label noise provided an average improvement of 3.9 F1 points. BioBERT provided an average improvement of 0.9 F1 points. We measure the impact of combining large numbers of ontologies and present a case study on rapidly building classifiers for COVID-19 clinical tasks. Our framework demonstrates how a wide range of medical entity classifiers can be quickly constructed using weak supervision and without requiring manually-labeled training data.

Language Models Are An Effective Patient Representation Learning Technique For Electronic Health Record Data

Widespread adoption of electronic health records (EHRs) has fueled development of clinical outcome models using machine learning. However, patient EHR data are complex, and how to optimally represent them is an open question. This complexity, along with often small training set sizes available to train these clinical outcome models, are two core challenges for training high quality models. In this paper, we demonstrate that learning generic representations from the data of all the patients in the EHR enables better performing prediction models for clinical outcomes, allowing for these challenges to be overcome. We adapt common representation learning techniques used in other domains and find that representations inspired by language models enable a 3.5% mean improvement in AUROC on five clinical outcomes compared to standard baselines, with the average improvement rising to 19% when only a small number of patients are available for training a prediction model for a given clinical outcome.

Using Ontologies To Improve Performance In Massively Multi-label Prediction Models

Massively multi-label prediction/classification problems arise in environments like health-care or biology where very precise predictions are useful. One challenge with massively multi-label problems is that there is often a long-tailed frequency distribution for the labels, which results in few positive examples for the rare labels. We propose a solution to this problem by modifying the output layer of a neural network to create a Bayesian network of sigmoids which takes advantage of ontology relationships between the labels to help share information between the rare and the more common labels. We apply this method to the two massively multi-label tasks of disease prediction (ICD-9 codes) and protein function prediction (Gene Ontology terms) and obtain significant improvements in per-label AUROC and average precision for less common labels.