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Isotta Landi

Publications and source records attributed to Isotta Landi.

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Fine-Tune, Don't Prompt, Your Language Model to Identify Biased Language in Clinical Notes

Clinical documentation can contain emotionally charged language with stigmatizing or privileging valences. We present a framework for detecting and classifying such language as stigmatizing, privileging, or neutral. We constructed a curated lexicon of biased terms scored for emotional valence. We then used lexicon-based matching to extract text chunks from OB-GYN delivery notes (Mount Sinai Hospital, NY) and MIMIC-IV discharge summaries across multiple specialties. Three clinicians annotated all chunks, enabling characterization of valence patterns across specialties and healthcare systems. We benchmarked multiple classification strategies (zero-shot prompting, in-context learning, and supervised fine-tuning) across encoder-only models (GatorTron) and generative large language models (Llama). Fine-tuning with lexically primed inputs consistently outperformed prompting approaches. GatorTron achieved an F1 score of 0.96 on the OB-GYN test set, outperforming larger generative models while requiring minimal prompt engineering and fewer computational resources. External validation on MIMIC-IV revealed limited cross-domain generalizability (F1 < 0.70, 44% drop). Training on the broader MIMIC-IV dataset improved generalizability when testing on OB-GYN (F1 = 0.71, 11% drop), but at the cost of reduced precision. Our findings demonstrate that fine-tuning outperforms prompting for emotional valence classification and that models must be adapted to specific medical specialties to achieve clinically appropriate performance. The same terms can carry different emotional valences across specialties: words with clinical meaning in one context may be stigmatizing in another. For bias detection, where misclassification risks undermining clinician trust or perpetuating patient harm, specialty-specific fine-tuning is essential to capture these semantic shifts. * Equal contribution.

cs.CL

Bias Detection in Emergency Psychiatry: Linking Negative Language to Diagnostic Disparities

The emergency department (ED) is a high stress environment with increased risk of clinician bias exposure. In the United States, Black patients are more likely than other racial/ethnic groups to obtain their first schizophrenia (SCZ) diagnosis in the ED, a highly stigmatizing disorder. Therefore, understanding the link between clinician bias exposure and psychiatric outcomes is critical for promoting nondiscriminatory decision-making in the ED. This study examines the association between clinician bias exposure and psychiatric diagnosis using a sample of patients with anxiety, bipolar, depression, trauma, and SCZ diagnoses (N=29,005) from a diverse, large medical center. Clinician bias exposure was quantified as the ratio of negative to total number of sentences in psychiatric notes, labeled using a large language model (Mistral). We utilized logistic regression to predict SCZ diagnosis when controlling for patient demographics, risk factors, and negative sentence ratio (NSR). A high NSR significantly increased one's odds of obtaining a SCZ diagnosis and attenuated the effects of patient race. Black male patients with high NSR had the highest odds of being diagnosed with SCZ. Our findings suggest sentiment-based metrics can operationalize clinician bias exposure with real world data and reveal disparities beyond race or ethnicity.

q-bio.OT

The Point of View of a Sentiment: Towards Clinician Bias Detection in Psychiatric Notes

Negative patient descriptions and stigmatizing language can contribute to generating healthcare disparities in two ways: (1) read by patients, they can harm their trust and engagement with the medical center; (2) read by physicians, they may negatively influence their perspective of a future patient. In psychiatry, the patient-clinician therapeutic alliance is a major determinant of clinical outcomes. Therefore, language usage in psychiatric clinical notes may not only create healthcare disparities, but also perpetuate them. Recent advances in NLP systems have facilitated the efforts to detect discriminatory language in healthcare. However, such attempts have only focused on the perspectives of the medical center and its physicians. Considering both physicians and non-physicians' point of view is a more translatable approach to identifying potentially harmful language in clinical notes. By leveraging pre-trained and large language models (PLMs and LLMs), this work aims to characterize potentially harmful language usage in psychiatric notes by identifying the sentiment expressed in sentences describing patients based on the reader's point of view. Extracting 39 sentences from the Mount Sinai Health System containing psychiatric lexicon, we fine-tuned three PLMs (RoBERTa, GatorTron, and GatorTron + Task Adaptation) and implemented zero-shot and few-shot ICL approaches for three LLMs (GPT-3.5, Llama-3.1, and Mistral) to classify the sentiment of the sentences according to the physician or non-physician point of view. Results showed that GPT-3.5 aligned best to physician point of view and Mistral aligned best to non-physician point of view. These results underline the importance of recognizing the reader's point of view, not only for improving the note writing process, but also for the quantification, identification, and reduction of bias in computational systems for downstream analyses.

cs.CL

Fair Machine Learning for Healthcare Requires Recognizing the Intersectionality of Sociodemographic Factors, a Case Study

As interest in implementing artificial intelligence (AI) in medical systems grows, discussion continues on how to evaluate the fairness of these systems, or the disparities they may perpetuate. Socioeconomic status (SES) is commonly included in machine learning models to control for health inequities, with the underlying assumption that increased SES is associated with better health. In this work, we considered a large cohort of patients from the Mount Sinai Health System in New York City to investigate the effect of patient SES, race, and sex on schizophrenia (SCZ) diagnosis rates via a logistic regression model. Within an intersectional framework, patient SES, race, and sex were found to have significant interactions. Our findings showed that increased SES is associated with a higher probability of obtaining a SCZ diagnosis in Black Americans ($\beta=4.1\times10^{-8}$, $SE=4.5\times10^{-9}$, $p < 0.001$). Whereas high SES acts as a protective factor for SCZ diagnosis in White Americans ($\beta=-4.1\times10^{-8}$, $SE=6.7\times10^{-9}$, $p < 0.001$). Further investigation is needed to reliably explain and quantify health disparities. Nevertheless, we advocate that building fair AI tools for the health care space requires recognizing the intersectionality of sociodemographic factors.

cs.CY

Extracting Social Support and Social Isolation Information from Clinical Psychiatry Notes: Comparing a Rule-based NLP System and a Large Language Model

Background: Social support (SS) and social isolation (SI) are social determinants of health (SDOH) associated with psychiatric outcomes. In electronic health records (EHRs), individual-level SS/SI is typically documented as narrative clinical notes rather than structured coded data. Natural language processing (NLP) algorithms can automate the otherwise labor-intensive process of data extraction. Data and Methods: Psychiatric encounter notes from Mount Sinai Health System (MSHS, n=300) and Weill Cornell Medicine (WCM, n=225) were annotated and established a gold standard corpus. A rule-based system (RBS) involving lexicons and a large language model (LLM) using FLAN-T5-XL were developed to identify mentions of SS and SI and their subcategories (e.g., social network, instrumental support, and loneliness). Results: For extracting SS/SI, the RBS obtained higher macro-averaged f-scores than the LLM at both MSHS (0.89 vs. 0.65) and WCM (0.85 vs. 0.82). For extracting subcategories, the RBS also outperformed the LLM at both MSHS (0.90 vs. 0.62) and WCM (0.82 vs. 0.81). Discussion and Conclusion: Unexpectedly, the RBS outperformed the LLMs across all metrics. Intensive review demonstrates that this finding is due to the divergent approach taken by the RBS and LLM. The RBS were designed and refined to follow the same specific rules as the gold standard annotations. Conversely, the LLM were more inclusive with categorization and conformed to common English-language understanding. Both approaches offer advantages and are made available open-source for future testing.

cs.CL

Natural Language Programming in Medicine: Administering Evidence Based Clinical Workflows with Autonomous Agents Powered by Generative Large Language Models

Generative Large Language Models (LLMs) hold significant promise in healthcare, demonstrating capabilities such as passing medical licensing exams and providing clinical knowledge. However, their current use as information retrieval tools is limited by challenges like data staleness, resource demands, and occasional generation of incorrect information. This study assessed the potential of LLMs to function as autonomous agents in a simulated tertiary care medical center, using real-world clinical cases across multiple specialties. Both proprietary and open-source LLMs were evaluated, with Retrieval Augmented Generation (RAG) enhancing contextual relevance. Proprietary models, particularly GPT-4, generally outperformed open-source models, showing improved guideline adherence and more accurate responses with RAG. The manual evaluation by expert clinicians was crucial in validating models' outputs, underscoring the importance of human oversight in LLM operation. Further, the study emphasizes Natural Language Programming (NLP) as the appropriate paradigm for modifying model behavior, allowing for precise adjustments through tailored prompts and real-world interactions. This approach highlights the potential of LLMs to significantly enhance and supplement clinical decision-making, while also emphasizing the value of continuous expert involvement and the flexibility of NLP to ensure their reliability and effectiveness in healthcare settings.

cs.AI

Keyword-optimized Template Insertion for Clinical Information Extraction via Prompt-based Learning

Clinical note classification is a common clinical NLP task. However, annotated data-sets are scarse. Prompt-based learning has recently emerged as an effective method to adapt pre-trained models for text classification using only few training examples. A critical component of prompt design is the definition of the template (i.e. prompt text). The effect of template position, however, has been insufficiently investigated. This seems particularly important in the clinical setting, where task-relevant information is usually sparse in clinical notes. In this study we develop a keyword-optimized template insertion method (KOTI) and show how optimizing position can improve performance on several clinical tasks in a zero-shot and few-shot training setting.

cs.CL

Clinical Text Deduplication Practices for Efficient Pretraining and Improved Clinical Tasks

Despite being a unique source of information on patients' status and disease progression, clinical notes are characterized by high levels of duplication and information redundancy. In general domain text, it has been shown that deduplication does not harm language model (LM) pretraining, thus helping reduce the training cost. Although large LMs have proven to learn medical knowledge, they still require specialized domain adaptation for improved downstream clinical tasks. By leveraging large real-world clinical corpora, we first provided a fine-grained characterization of duplicates stemming from common writing practices and clinical relevancy. Second, we demonstrated that deduplicating clinical text can help clinical LMs encode less redundant information in a more efficient manner and do not harm classification tasks via prompt-based learning.

cs.CL

reval: a Python package to determine best clustering solutions with stability-based relative clustering validation

Determining the best partition for a dataset can be a challenging task because of 1) the lack of a priori information within an unsupervised learning framework; and 2) the absence of a unique clustering validation approach to evaluate clustering solutions. Here we present reval: a Python package that leverages stability-based relative clustering validation methods to determine best clustering solutions as the ones that best generalize to unseen data. Statistical software, both in R and Python, usually rely on internal validation metrics, such as silhouette, to select the number of clusters that best fits the data. Meanwhile, open-source software solutions that easily implement relative clustering techniques are lacking. Internal validation methods exploit characteristics of the data itself to produce a result, whereas relative approaches attempt to leverage the unknown underlying distribution of data points looking for generalizable and replicable results. The implementation of relative validation methods can further the theory of clustering by enriching the already available methods that can be used to investigate clustering results in different situations and for different data distributions. This work aims at contributing to this effort by developing a stability-based method that selects the best clustering solution as the one that replicates, via supervised learning, on unseen subsets of data. The package works with multiple clustering and classification algorithms, hence allowing both the automatization of the labeling process and the assessment of the stability of different clustering mechanisms.

cs.LG

Deep Representation Learning of Electronic Health Records to Unlock Patient Stratification at Scale

Deriving disease subtypes from electronic health records (EHRs) can guide next-generation personalized medicine. However, challenges in summarizing and representing patient data prevent widespread practice of scalable EHR-based stratification analysis. Here we present an unsupervised framework based on deep learning to process heterogeneous EHRs and derive patient representations that can efficiently and effectively enable patient stratification at scale. We considered EHRs of 1,608,741 patients from a diverse hospital cohort comprising of a total of 57,464 clinical concepts. We introduce a representation learning model based on word embeddings, convolutional neural networks, and autoencoders (i.e., ConvAE) to transform patient trajectories into low-dimensional latent vectors. We evaluated these representations as broadly enabling patient stratification by applying hierarchical clustering to different multi-disease and disease-specific patient cohorts. ConvAE significantly outperformed several baselines in a clustering task to identify patients with different complex conditions, with 2.61 entropy and 0.31 purity average scores. When applied to stratify patients within a certain condition, ConvAE led to various clinically relevant subtypes for different disorders, including type 2 diabetes, Parkinson's disease and Alzheimer's disease, largely related to comorbidities, disease progression, and symptom severity. With these results, we demonstrate that ConvAE can generate patient representations that lead to clinically meaningful insights. This scalable framework can help better understand varying etiologies in heterogeneous sub-populations and unlock patterns for EHR-based research in the realm of personalized medicine.

q-bio.QM

Convolutional neural networks for structured omics: OmicsCNN and the OmicsConv layer

Convolutional Neural Networks (CNNs) are a popular deep learning architecture widely applied in different domains, in particular in classifying over images, for which the concept of convolution with a filter comes naturally. Unfortunately, the requirement of a distance (or, at least, of a neighbourhood function) in the input feature space has so far prevented its direct use on data types such as omics data. However, a number of omics data are metrizable, i.e., they can be endowed with a metric structure, enabling to adopt a convolutional based deep learning framework, e.g., for prediction. We propose a generalized solution for CNNs on omics data, implemented through a dedicated Keras layer. In particular, for metagenomics data, a metric can be derived from the patristic distance on the phylogenetic tree. For transcriptomics data, we combine Gene Ontology semantic similarity and gene co-expression to define a distance; the function is defined through a multilayer network where 3 layers are defined by the GO mutual semantic similarity while the fourth one by gene co-expression. As a general tool, feature distance on omics data is enabled by OmicsConv, a novel Keras layer, obtaining OmicsCNN, a dedicated deep learning framework. Here we demonstrate OmicsCNN on gut microbiota sequencing data, for Inflammatory Bowel Disease (IBD) 16S data, first on synthetic data and then a metagenomics collection of gut microbiota of 222 IBD patients.

q-bio.QM