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Patient and Family Perspectives on Generative AI Tools in Rare Diseases: Exploratory Mixed Methods Online Survey
Charlotte Blease1,2, James Jones3, Catherine E Blease
1Department of Women's and Children's Health, Uppsala University, MTC-huset, Dag Hammarskjölds väg 14B, 1 tr, Uppsala, Uppsala, 752 37, Sweden, 46 734697471.
Journal of Participatory Medicine
|July 24, 2026
Summary
Patients and families with rare diseases use generative artificial intelligence (GenAI) tools for information and advocacy, but express concerns about accuracy and safety. Cautious experimentation with GenAI highlights a need for further research into its judicious use in rare disease care.
Area of Science:
- Health Informatics
- Artificial Intelligence in Healthcare
- Patient Advocacy
Background:
- Generative artificial intelligence (GenAI) tools are increasingly accessible for health applications, yet research primarily focuses on clinician adoption.
- Little is known about patient and family use of GenAI, especially in rare disease contexts with common diagnostic delays and informational needs.
Purpose of the Study:
- To investigate the experiences and opinions of adult rare disease patients and caregivers regarding GenAI tool usage.
- To understand how GenAI influences medical decisions, diagnoses, and patient/caregiver interactions within the rare disease community.
Main Methods:
- An exploratory mixed-methods web-based survey was conducted with rare disease patients and caregivers in the US.
- The survey assessed GenAI use, purposes, perceived influence, trust, concerns, and harm, complemented by qualitative open-text responses.
Main Results:
- Over half of respondents (54.8%) used GenAI for rare disease information, exploring treatments, interpreting medical data, and seeking diagnoses.
- GenAI influenced medical decisions for 32% and contributed to diagnoses for nearly 10% of users.
- Widespread concerns about GenAI accuracy (61.8%) were noted, with most users not discussing AI information with clinicians.
Conclusions:
- Patients and families actively use GenAI for information and advocacy in rare diseases, balancing its utility with significant concerns about reliability and safety.
- Findings suggest patients can use GenAI judiciously, challenging clinician assumptions, though the sample's high education level warrants further investigation with broader populations.
