Anupam Pathak

Daniel McDuff, Mike Schaekermann, Tao Tu et al.

An accurate differential diagnosis (DDx) is a cornerstone of medical care, often reached through an iterative process of interpretation that combines clinical history, physical examination, investigations and procedures. Interactive interfaces powered by Large Language Models (LLMs) present new opportunities to both assist and automate aspects of this process. In this study, we introduce an LLM optimized for diagnostic reasoning, and evaluate its ability to generate a DDx alone or as an aid to clinicians. 20 clinicians evaluated 302 challenging, real-world medical cases sourced from the New England Journal of Medicine (NEJM) case reports. Each case report was read by two clinicians, who were randomized to one of two assistive conditions: either assistance from search engines and standard medical resources, or LLM assistance in addition to these tools. All clinicians provided a baseline, unassisted DDx prior to using the respective assistive tools. Our LLM for DDx exhibited standalone performance that exceeded that of unassisted clinicians (top-10 accuracy 59.1% vs 33.6%, [p = 0.04]). Comparing the two assisted study arms, the DDx quality score was higher for clinicians assisted by our LLM (top-10 accuracy 51.7%) compared to clinicians without its assistance (36.1%) (McNemar's Test: 45.7, p < 0.01) and clinicians with search (44.4%) (4.75, p = 0.03). Further, clinicians assisted by our LLM arrived at more comprehensive differential lists than those without its assistance. Our study suggests that our LLM for DDx has potential to improve clinicians' diagnostic reasoning and accuracy in challenging cases, meriting further real-world evaluation for its ability to empower physicians and widen patients' access to specialist-level expertise.

Girish Narayanswamy, Maxwell A. Xu, A. Ali Heydari et al.

While ubiquitous wearable sensors capture a wealth of behavioral and physiological information, effectively transforming these signals into personalized health insights is challenging. Specifically, converting low-level sensor data into representations capable of characterizing higher-level states is difficult due to high phenotypic diversity and variation in individual baseline health, physiology, and lifestyle factors. Moreover, collecting wearable data paired with health outcome annotations is laborious and expensive, and retrospective annotation remains practically unfeasible, contributing to a scarcity of data with high-quality labels. To overcome these limitations, we propose a foundation model for wearable health that is pretrained on more than one trillion minutes of unlabeled sensor signals drawn from a large cohort of five million participants. We demonstrate that the joint scaling of model capacity and pretraining data volume leads to systematic improvements in performance, as evaluated on a diverse set of 35 health prediction tasks, spanning cardiovascular, metabolic, sleep, and mental health, as well as lifestyle choices and demographic factors. We find that this population scale representation unlocks label-efficient few-shot learning and generative capabilities for robust daily metric estimation. To further leverage this learned representation, we deploy a classroom of LLM agents to autonomously search the space of downstream predictive heads built on the model embeddings, showing broad performance improvements that increase with LLM model capacity. Finally, we show how integrating these downstream predictors into a Personal Health Agent can support model responses that are more relevant, contextually aware, and safe, and we validate this via 1,860 ratings from a cohort of clinicians.

Peng Cao, Zhijian Yang, Tennison Liu et al.

Wearable sensors enable the continuous acquisition of high-resolution physiological waveforms, such as photoplethysmography and accelerometry, under free-living conditions. However, inferring health-related phenotypes from these signals presents significant challenges due to high sampling frequencies, multimodal dependencies, and extreme sequence lengths (e.g., weeks of recordings), compounded by a scarcity of ground-truth labels. To address these challenges, existing self-supervised learning (SSL) methodologies typically follow two paradigms: (1) learning rich morphological representations from short waveform segments while collapsing longitudinal dynamics through simple aggregation, or (2) modeling behavioral patterns from coarse, hand-crafted features (e.g. heart rate, step counts) spanning longer horizons but foregoing subtle, predictive signatures in raw waveforms. To bridge this gap, we propose WavesFM, a foundation model utilizing a two-stage SSL framework for longitudinal physiological data. Specifically, we decompose the learning problem into two stages: first, a segment-level encoder is pretrained to extract local embeddings from short waveforms; subsequently, a temporal encoder is trained to model the sequence of these embeddings across a multi-day horizon. This hierarchical approach overcomes the computational complexity of high-resolution, long-sequence data, allowing the overall model to capture both local signal semantics and the complex circadian and inter-day variations governing physiological dynamics. Pretrained on over 6.8M hours (N=324k individuals) of recordings for the first stage and 5.3M hours (N=10k) for the second stage, WavesFM demonstrates superior performance across 58 diverse tasks spanning demographics, lifestyle, health conditions, and medications.

Joseph Breda, Fadi Yousif, Beszel Hawkins et al.

Language models excel at diagnostic assessments on currated medical case-studies and vignettes, performing on par with, or better than, clinical professionals. However, existing studies focus on complex scenarios with rich context making it difficult to draw conclusions about how these systems perform for patients reporting symptoms in everyday life. We deployed SymptomAI, a set of conversational AI agents for end-to-end patient interviewing and differential diagnosis (DDx), via the Fitbit app in a study that randomized participants (N=13,917) to interact with five AI agents. This corpus captures diverse communication and a realistic distribution of illnesses from a real world population. A subset of 1,228 participants reported a clinician-provided diagnosis, and 517 of these were further evaluated by a panel of clinicians during over 250 hours of annotation. SymptomAI DDx were significantly more accurate (OR = 2.47, p < 0.001) than those from independent clinicians given the same dialogue in a blinded randomized comparison. Moreover, agentic strategies which conduct a dedicated symptom interview that elicit additional symptom information before providing a diagnosis, perform substantially better than baseline, user-guided conversations (p < 0.001). An auxiliary analysis on 1,509 conversations from a general US population panel validated that these results generalize beyond wearable device users. We used SymptomAI diagnoses as labels for all 13,917 participants to analyze over 500,000 days of wearable metrics across nearly 400 unique conditions. We identified strong associations between acute infections and physiological shifts (e.g., OR > 7 for influenza). While limited by self-reported ground truth, these results demonstrate the benefits of a dedicated and complete symptom interview compared to a user-guided symptom discussion, which is the default of most consumer LLMs.

Shun Liao, Paolo Di Achille, Jiang Wu et al.

Resting heart rate (RHR) is an important biomarker of cardiovascular health and mortality, but tracking it longitudinally generally requires a wearable device, limiting its availability. We present PHRM, a deep learning system for passive heart rate (HR) and RHR measurements during everyday smartphone use, using facial video-based photoplethysmography. Our system was developed using 225,773 videos from 495 participants and validated on 185,970 videos from 205 participants in laboratory and free-living conditions, representing the largest validation study of its kind. Compared to reference electrocardiogram, PHRM achieved a mean absolute percentage error (MAPE) < 10% for HR measurements across three skin tone groups of light, medium and dark pigmentation; MAPE for each skin tone group was non-inferior versus the others. Daily RHR measured by PHRM had a mean absolute error < 5 bpm compared to a wearable HR tracker, and was associated with known risk factors. These results highlight the potential of smartphones to enable passive and equitable heart health monitoring.

Ming-Zher Poh, Jonathan Wang, Jonathan Hsu et al.

Smartphone-based heart rate (HR) monitoring apps using finger-over-camera photoplethysmography (PPG) face significant challenges in performance evaluation and device compatibility due to device variability and fragmentation. Manual testing is impractical, and standardized methods are lacking. This paper presents a novel, high-throughput bench-testing platform to address this critical need. We designed a system comprising a test rig capable of holding 12 smartphones for parallel testing, a method for generating synthetic PPG test videos with controllable HR and signal quality, and a host machine for coordinating video playback and data logging. The system achieved a mean absolute percentage error (MAPE) of 0.11% +/- 0.001% between input and measured HR, and a correlation coefficient of 0.92 +/- 0.008 between input and measured PPG signals using a clinically-validated smartphone-based HR app. Bench-testing results of 20 different smartphone models correctly classified all the devices as meeting the ANSI/CTA accuracy standards for HR monitors (MAPE <10%) when compared to a prospective clinical study with 80 participants, demonstrating high positive predictive value. This platform offers a scalable solution for pre-deployment testing of smartphone HR apps to improve app performance, ensure device compatibility, and advance the field of mobile health.