Rare genetic disease diagnosis faces critical challenges: insufficient patient data, inaccessible full genome sequencing, and the immense number of possible causative genes. These limitations cause prolonged diagnostic journeys, inappropriate treatments, and critical delays, disproportionately affecting patients in resource-limited settings where diagnostic tools are scarce. We propose RareNet, a subgraph-based Graph Neural Network that requires only patient phenotypes to identify the most likely causal gene and retrieve focused patient subgraphs for targeted clinical investigation. RareNet can function as a standalone method or serve as a pre-processing or post-processing filter for other candidate gene prioritization methods, consistently enhancing their performance while potentially enabling explainable insights. Through comprehensive evaluation on two biomedical datasets, we demonstrate competitive and robust causal gene prediction and significant performance gains when integrated with other frameworks. By requiring only phenotypic data, which is readily available in any clinical setting, RareNet democratizes access to sophisticated genetic analysis, offering particular value for underserved populations lacking advanced genomic infrastructure.

However, patient outcomes with current technologies are limited.

Objective Structured Clinical Examinations (OSCEs) are essential for medical training, but they require significant resources, including professional actors and expert medical feedback. Although Large Language Models (LLMs) have introduced text-based virtual patients for communication practice, these simulations often lack the capability for richer, non-textual interactions. This paper presents a novel framework that significantly enhances LLM-based simulated patients by equipping them with action spaces, thereby enabling more realistic and dynamic patient behaviors that extend beyond text. Furthermore, our system incorporates virtual tutors that provide students with instant, personalized feedback on their performance at any time during these simulated encounters. We have conducted a rigorous evaluation of the framework's real-time performance, including system latency and component accuracy. Preliminary evaluations with medical experts assessed the naturalness and coherence of the simulated patients, as well as the usefulness and appropriateness of the virtual tutor's assessments. This innovative system provides medical students with a low-cost, accessible platform for personalized OSCE preparation at home.

The increasing demand for mental health services has outpaced the availability of real training data to develop clinical professionals, leading to limited support for the diagnosis of depression. This shortage has motivated the development of simulated or virtual patients to assist in training and evaluation, but existing approaches often fail to generate clinically valid, natural, and diverse symptom presentations. In this work, we embrace the recent advanced language models as the backbone and propose a novel clinician-in-the-loop patient simulation pipeline, TalkDep, with access to diversified patient profiles to develop simulated patients. By conditioning the model on psychiatric diagnostic criteria, symptom severity scales, and contextual factors, our goal is to create authentic patient responses that can better support diagnostic model training and evaluation. We verify the reliability of these simulated patients with thorough assessments conducted by clinical professionals. The availability of validated simulated patients offers a scalable and adaptable resource for improving the robustness and generalisability of automatic depression diagnosis systems.

Objective To develop an LLM based realtime compound diagnostic medical AI interface and performed a clinical trial comparing this interface and physicians for common internal medicine cases based on the United States Medical License Exam (USMLE) Step 2 Clinical Skill (CS) style exams. Methods A nonrandomized clinical trial was conducted on August 20, 2024. We recruited one general physician, two internal medicine residents (2nd and 3rd year), and five simulated patients. The clinical vignettes were adapted from the USMLE Step 2 CS style exams. We developed 10 representative internal medicine cases based on actual patients and included information available on initial diagnostic evaluation. Primary outcome was the accuracy of the first differential diagnosis. Repeatability was evaluated based on the proportion of agreement. Results The accuracy of the physicians' first differential diagnosis ranged from 50% to 70%, whereas the realtime compound diagnostic medical AI interface achieved an accuracy of 80%. The proportion of agreement for the first differential diagnosis was 0.7. The accuracy of the first and second differential diagnoses ranged from 70% to 90% for physicians, whereas the AI interface achieved an accuracy rate of 100%. The average time for the AI interface (557 sec) was 44.6% shorter than that of the physicians (1006 sec). The AI interface ($0.08) also reduced costs by 98.1% compared to the physicians' average ($4.2). Patient satisfaction scores ranged from 4.2 to 4.3 for care by physicians and were 3.9 for the AI interface Conclusion An LLM based realtime compound diagnostic medical AI interface demonstrated diagnostic accuracy and patient satisfaction comparable to those of a physician, while requiring less time and lower costs. These findings suggest that AI interfaces may have the potential to assist primary care consultations for common internal medicine cases.

The rise of LLM-driven AI characters raises safety concerns, particularly for vulnerable human users with psychological disorders. To address these risks, we propose EmoAgent, a multi-agent AI framework designed to evaluate and mitigate mental health hazards in human-AI interactions. EmoAgent comprises two components: EmoEval simulates virtual users, including those portraying mentally vulnerable individuals, to assess mental health changes before and after interactions with AI characters. It uses clinically proven psychological and psychiatric assessment tools (PHQ-9, PDI, PANSS) to evaluate mental risks induced by LLM. EmoGuard serves as an intermediary, monitoring users' mental status, predicting potential harm, and providing corrective feedback to mitigate risks. Experiments conducted in popular character-based chatbots show that emotionally engaging dialogues can lead to psychological deterioration in vulnerable users, with mental state deterioration in more than 34.4% of the simulations. EmoGuard significantly reduces these deterioration rates, underscoring its role in ensuring safer AI-human interactions. Our code is available at: https://github.com/1akaman/EmoAgent

Learning therapeutic counseling involves significant role-play experience with mock patients, with current manual training methods providing only intermittent granular feedback. We seek to accelerate and optimize counselor training by providing frequent, detailed feedback to trainees as they interact with a simulated patient. Our first application domain involves training motivational interviewing skills for counselors. Motivational interviewing is a collaborative counseling style in which patients are guided to talk about changing their behavior, with empathetic counseling an essential ingredient. We developed and evaluated an LLM-powered training system that features a simulated patient and visualizations of turn-by-turn performance feedback tailored to the needs of counselors learning motivational interviewing. We conducted an evaluation study with professional and student counselors, demonstrating high usability and satisfaction with the system. We present design implications for the development of automated systems that train users in counseling skills and their generalizability to other types of social skills training.