Patient and family perspectives on generative artificial intelligence tools in rare diseases: an exploratory mixed methods online survey. 

Generative AI (GenAI) tools are increasingly used by patients and families seeking diagnoses of rare diseases. This preprint study explores their active use of GenAI for information, preparation, and advocacy, despite their concerns about reliability and safety. The results reveal the concealed behaviors associated with patient-driven GenAI use outside the clinical environment. Improved patient-centered design, education, and governance are necessary to ensure GenAI helps reduce—not worsen—inequities in rare disease care.