arXiv subjects

Isaac S. Kohane

Publications and source records attributed to Isaac S. Kohane.

12 recordsLinked to original sources

arXiv2026

Rare Diseases, Common Dilemmas: LLMs Prioritize Equal Resource Distribution over Patient Benefit in Decision-Making

Clinical decision-making often involves prioritizing ethical values, such as beneficence, non-maleficence, respecting a patient's autonomy, and justice. Recent work has begun to assess how large language models (LLMs) make such subjective, value-laden clinical judgments. However, evaluations of LLM decision-making in rare disease care contexts, where ethical tensions are ubiquitous and where scarce prior information likely impacts LLM behavior, are still lacking. Here, we present a benchmark of 208 clinically grounded rare disease vignettes, each of which presents genuine, high-stakes conflicts. When prompting 11 state-of-the-art LLMs to choose between clinically defensible yet ethically conflicting next steps embedded within these vignettes, we found that all evaluated models consistently prioritized justice over other core bioethical principles. Specifically, models overwhelmingly favor equal resource allocation over need-based considerations, indicating LLMs' limited responsiveness to differences in clinical severity or situational context. We also identify a strong authority-framing effect: models favor justice in committee-based contexts and shift toward beneficence and autonomy only when final decisions are framed as being made by clinicians or patients respectively. Our work suggests that institutional pressures surrounding rare disease resource utilization may be silently reflected in LLM-based decision support systems, with finer ethical considerations disregarded.

cs.CY↗

arXiv2026

A global log for medical AI

Modern computer systems rely on syslog, a universal protocol that records critical events across heterogeneous infrastructure. Medicine's rapidly growing AI stack has no equivalent. As medicine deploys AI tools at scale, there is no standard way to record how, when, by whom, and for whom these models are used. Without such records, it is difficult to measure real-world performance and outcomes, detect adverse events, or identify bias and dataset drift. Here we introduce MedLog, a protocol for event-level logging of medical AI. Each time an AI model interacts with a human, another algorithm, or an automated workflow, MedLog creates a record. Each record contains nine core fields: header, model, user, target, inputs, artifacts, outputs, outcomes, and feedback. We apply MedLog across four deployments in the US, Switzerland, and Vietnam: ICU deterioration prediction, tetanus progression monitoring from wearable signals, automated sepsis quality reporting, and patient attendance prediction. MedLog records capture model behavior, workflow interactions, and downstream outcomes, including AI performance degradation during severe weather events in patient attendance prediction and increased laboratory testing after ICU deterioration alerts. MedLog limits the data footprint through risk-based sampling, lifecycle-aware retention policies, and write-behind caching, enabling deployment in low-resource settings. It also supports detailed traces for complex, agentic, or multi-stage workflows, creating a foundation for continuous monitoring, auditing, and improvement of medical AI.

cs.AI↗

arXiv2026

What Does the AI Doctor Value? Auditing Pluralism in the Clinical Ethics of Language Models

Medicine is inherently pluralistic. Principles such as autonomy, beneficence, nonmaleficence, and justice routinely conflict, and such ethical dilemmas often sharply divide reasonable physicians. Good clinical practice navigates these tensions in concert with each patient's values rather than imposing a single ethical stance. The ethical values that large language models bring to medical advice, however, have not been systematically examined. We present a framework for auditing value pluralism in medical AI, comprising a benchmark of clinician-verified dilemmas and an attribution method that recovers value priorities directly from decisions. The ecosystem of frontier models spans physician-level value heterogeneity, and models discuss competing values in their reasoning (Overton pluralism) before committing to a decision. However, individual model decisions are near-deterministic across repeated sampling and semantic variations, failing to reproduce the distributional pluralism of the physician panel. Across benchmark cases, these consistent decisions reflect committed, systematic value preferences. While most model priorities fall within the natural range of inter-physician variation, some significantly underweight patient autonomy. A single LLM deployed without regard for its value priorities could amplify those priorities at scale to every patient it serves. Without explicit efforts to balance ethical perspectives with one or multiple models, these tools risk replacing clinical pluralism with a deployment monoculture.

cs.AI↗

arXiv2025

One Patient, Many Contexts: Scaling Medical AI with Contextual Intelligence

Medical AI, including clinical language models, vision-language models, and multimodal health record models, already summarizes notes, answers questions, and supports decisions. Their adaptation to new populations, specialties, or care settings often relies on fine-tuning, prompting, or retrieval from external knowledge bases. These strategies can scale poorly and risk contextual errors: outputs that appear plausible but miss critical patient or situational information. We envision context switching as a solution. Context switching adjusts model reasoning at inference without retraining. Generative models can tailor outputs to patient biology, care setting, or disease. Multimodal models can reason on notes, laboratory results, imaging, and genomics, even when some data are missing or delayed. Agent models can coordinate tools and roles based on tasks and users. In each case, context switching enables medical AI to adapt across specialties, populations, and geographies. It requires advances in data design, model architectures, and evaluation frameworks, and establishes a foundation for medical AI that scales to infinitely many contexts while remaining reliable and suited to real-world care.

cs.AI↗

arXiv2024

Causal machine learning for predicting treatment outcomes

Causal machine learning (ML) offers flexible, data-driven methods for predicting treatment outcomes including efficacy and toxicity, thereby supporting the assessment and safety of drugs. A key benefit of causal ML is that it allows for estimating individualized treatment effects, so that clinical decision-making can be personalized to individual patient profiles. Causal ML can be used in combination with both clinical trial data and real-world data, such as clinical registries and electronic health records, but caution is needed to avoid biased or incorrect predictions. In this Perspective, we discuss the benefits of causal ML (relative to traditional statistical or ML approaches) and outline the key components and steps. Finally, we provide recommendations for the reliable use of causal ML and effective translation into the clinic.

cs.LG↗

arXiv2022

Identifying Heterogeneous Treatment Effects in Multiple Outcomes using Joint Confidence Intervals

Heterogeneous treatment effects (HTEs) are commonly identified during randomized controlled trials (RCTs). Identifying subgroups of patients with similar treatment effects is of high interest in clinical research to advance precision medicine. Often, multiple clinical outcomes are measured during an RCT, each having a potentially heterogeneous effect. Recently there has been high interest in identifying subgroups from HTEs, however, there has been less focus on developing tools in settings where there are multiple outcomes. In this work, we propose a framework for partitioning the covariate space to identify subgroups across multiple outcomes based on the joint CIs. We test our algorithm on synthetic and semi-synthetic data where there are two outcomes, and demonstrate that our algorithm is able to capture the HTE in both outcomes simultaneously.

cs.LG↗

arXiv2020

Cross-modal representation alignment of molecular structure and perturbation-induced transcriptional profiles

Modeling the relationship between chemical structure and molecular activity is a key goal in drug development. Many benchmark tasks have been proposed for molecular property prediction, but these tasks are generally aimed at specific, isolated biomedical properties. In this work, we propose a new cross-modal small molecule retrieval task, designed to force a model to learn to associate the structure of a small molecule with the transcriptional change it induces. We develop this task formally as multi-view alignment problem, and present a coordinated deep learning approach that jointly optimizes representations of both chemical structure and perturbational gene expression profiles. We benchmark our results against oracle models and principled baselines, and find that cell line variability markedly influences performance in this domain. Our work establishes the feasibility of this new task, elucidates the limitations of current data and systems, and may serve to catalyze future research in small molecule representation learning.

q-bio.QM↗

arXiv2019

Clinical Concept Embeddings Learned from Massive Sources of Multimodal Medical Data

Word embeddings are a popular approach to unsupervised learning of word relationships that are widely used in natural language processing. In this article, we present a new set of embeddings for medical concepts learned using an extremely large collection of multimodal medical data. Leaning on recent theoretical insights, we demonstrate how an insurance claims database of 60 million members, a collection of 20 million clinical notes, and 1.7 million full text biomedical journal articles can be combined to embed concepts into a common space, resulting in the largest ever set of embeddings for 108,477 medical concepts. To evaluate our approach, we present a new benchmark methodology based on statistical power specifically designed to test embeddings of medical concepts. Our approach, called cui2vec, attains state-of-the-art performance relative to previous methods in most instances. Finally, we provide a downloadable set of pre-trained embeddings for other researchers to use, as well as an online tool for interactive exploration of the cui2vec embeddings

cs.CL↗

arXiv2019

Adversarial Attacks Against Medical Deep Learning Systems

The discovery of adversarial examples has raised concerns about the practical deployment of deep learning systems. In this paper, we demonstrate that adversarial examples are capable of manipulating deep learning systems across three clinical domains. For each of our representative medical deep learning classifiers, both white and black box attacks were highly successful. Our models are representative of the current state of the art in medical computer vision and, in some cases, directly reflect architectures already seeing deployment in real world clinical settings. In addition to the technical contribution of our paper, we synthesize a large body of knowledge about the healthcare system to argue that medicine may be uniquely susceptible to adversarial attacks, both in terms of monetary incentives and technical vulnerability. To this end, we outline the healthcare economy and the incentives it creates for fraud and provide concrete examples of how and why such attacks could be realistically carried out. We urge practitioners to be aware of current vulnerabilities when deploying deep learning systems in clinical settings, and encourage the machine learning community to further investigate the domain-specific characteristics of medical learning systems.

cs.CR↗

arXiv2018

Towards generative adversarial networks as a new paradigm for radiology education

Medical students and radiology trainees typically view thousands of images in order to "train their eye" to detect the subtle visual patterns necessary for diagnosis. Nevertheless, infrastructural and legal constraints often make it difficult to access and quickly query an abundance of images with a user-specified feature set. In this paper, we use a conditional generative adversarial network (GAN) to synthesize $1024\times1024$ pixel pelvic radiographs that can be queried with conditioning on fracture status. We demonstrate that the conditional GAN learns features that distinguish fractures from non-fractures by training a convolutional neural network exclusively on images sampled from the GAN and achieving an AUC of $>0.95$ on a held-out set of real images. We conduct additional analysis of the images sampled from the GAN and describe ongoing work to validate educational efficacy.

cs.CV↗

arXiv2018

Learning Contextual Hierarchical Structure of Medical Concepts with Poincairé Embeddings to Clarify Phenotypes

Biomedical association studies are increasingly done using clinical concepts, and in particular diagnostic codes from clinical data repositories as phenotypes. Clinical concepts can be represented in a meaningful, vector space using word embedding models. These embeddings allow for comparison between clinical concepts or for straightforward input to machine learning models. Using traditional approaches, good representations require high dimensionality, making downstream tasks such as visualization more difficult. We applied Poincaré embeddings in a 2-dimensional hyperbolic space to a large-scale administrative claims database and show performance comparable to 100-dimensional embeddings in a euclidean space. We then examine disease relationships under different disease contexts to better understand potential phenotypes.

q-bio.QM↗

arXiv2017

Auditory Brainstem Response in Infants and Children with Autism: A Meta-Analysis

Infants with autism were recently found to have prolonged Auditory Brainstem Response (ABR); however, at older ages, findings are contradictory. We compared ABR differences between participants with autism and controls with respect to age using a meta-analysis. Data sources included MEDLINE, EMBASE, Web of Science, Google Scholar, HOLLIS and ScienceDirect from their inception to June 2016. The 25 studies that were included had a total of 1349 participants (727 participants with autism and 622 controls) and an age range of 0-40 years. Prolongation of wave V in autism had a significant negative correlation with age (R2=0.23; P=.01). The 22 studies below age 18 years showed a significantly prolonged wave V in autism (Standard Mean Difference=0.6 [95% CI, 0.5 to 0.8]; P<.001). The 3 studies above 18 years of age showed a significantly shorter wave V in autism (SMD=-0.6 [95% CI, -1.0 to -0.2]; P=.004). Prolonged ABR was consistent in infants and children with autism, suggesting it can serve as an autism biomarker at infancy. As the ABR is routinely used to screen infants for hearing impairment, the opportunity for replication studies is extensive.

q-bio.NC↗