An agentic system for rare disease diagnosis with traceable reasoning.

Rare diseases affect over 300 million people but are hard to diagnose due to limited clinical team familiarity and diverse symptoms. This Chinese study tested an AI system designed to assist with rare disease diagnosis through its use of information and reasoning process. Across nearly 3,000 rare diseases representing 14 medical specialties, the system had superior performance compared to existing methods on several benchmarks and high expert agreement on its reasoning chains.