Patient and Family Perspectives on Generative AI Tools in Rare Diseases: Exploratory Mixed Methods Online Survey.
Rare disease patients widely use AI chatbots for support and information but worry about accuracy, signaling demand for clinician-vetted AI tools designed for these communities.
This exploratory mixed-methods survey documents widespread use of generative AI tools among patients and families living with rare diseases for information gathering, emotional support, and healthcare system navigation. Significant concerns about AI accuracy and privacy were reported, with a strong desire for clinician-provided guidance on AI use — informing development of patient-facing AI tools specifically designed for rare disease contexts.
What the study was
- Study design
- Exploratory mixed-methods online survey
- Population
- Patients and family members living with rare diseases (online survey sample)
- Category
- Other
- Maturity
- Exploratory
- Journal
- Journal of participatory medicine
Why it surfaced
Exploratory survey (Mandl KD / Blease C groups) on generative AI use in rare disease patient communities. Limited by survey methodology and small inferential scope, but provides patient-perspective framing for AI deployment in rare disease settings. J Particip Med.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.