Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network

Key Points

• Large language models can accurately identify diagnoses for rare diseases in patients referred to the Undiagnosed Diseases Network, improving diagnosis rates.
• The study assessed clinical information of patients from the Undiagnosed Diseases Network, revealing that LLMs can enhance diagnostic accuracy.
• Cohort study analyzing patient data demonstrates the ability of LLMs to assist in achieving diagnoses for complex cases.
• Results support the integration of LLMs in clinical settings, suggesting benefits for diagnosing rare diseases and reducing diagnostic odyssey.