Exploring Needs and Priorities in Digital Health Management for Rare Disease Patients and their Caregivers: A Mixed-Methods Study

Rare diseases affect millions worldwide and are associated with long diagnostic delays, limited access to treatments, and substantial challenges in daily care and coordination. Digital health technologies, including mobile apps, telehealth, and data-sharing platforms, offer opportunities to improve care and quality of life for people living with rare diseases. As these tools rapidly expand, this study examines the needs, expectations, and conditions for successful adoption of patient-centered digital solutions among individuals living with rare diseases and their families. Using a mixed-methods design, we surveyed 149 patients and caregivers, and conducted follow-up focus groups with 15 participants. Our findings highlight the essential role of digital tools in supporting people with rare diseases and their families. Key priorities include centralized health data, support for patient-generated data, and improved communication and information exchange with clinicians. Participants strongly emphasized the value of telehealth to reduce travel and simplify daily life, as well as patient-centered tools for diagnosis and emergency situations. Future digital solutions should integrate system-wide data, incorporate AI, and provide support during stressful situations, ultimately reducing patient burden despite persistent structural challenges. Respondents expressed strong interest in technologies that place patients at the center of care and improve coordination across providers. Overall, our study identifies actionable targets for innovation and highlights technological, regulatory, and resource-related barriers that must be addressed to advance patient-centered digital solutions for rare diseases and guide future research and policy development. Author SummaryPeople living with rare diseases often wait years for a diagnosis and struggle with complex, fragmented care. Digital health technologies could help address these challenges, but only if they are designed around patients real needs. To better understand these needs, we surveyed 149 patients and caregivers in Quebec and held follow-up discussions with 15 participants. They emphasized the importance of centralized access to health information, better communication with clinicians, and tools that support patient-generated data. Telehealth was especially valued because it reduces travel and simplifies everyday life. Our findings show that people with rare diseases want digital solutions that reduce their daily burden, improve coordination across providers, and support them during stressful moments such as emergency visits or the diagnostic process. This work provides practical guidance for designing patient-centered digital tools and highlights system-level barriers that must be addressed to ensure these innovations truly benefit the rare disease community.