We are pleased to announce a new IRDiRC publication, “Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews”, produced by the IRDiRC’s Enabling and Enhancing Telehealth for Rare Diseases Across the Globe Task Force, which explores how telehealth (TH) can transform diagnosis, care, research, and education for rare diseases (RDs) worldwide.
Through interviews with 23 key opinion leaders (KOLs) across Europe, the United States, Sub-Saharan Africa, and Asia, we gathered diverse perspectives spanning clinicians, researchers, patient advocates, regulatory experts, and families.
Highlights:
• Telehealth has strong potential to improve access to timely and accurate diagnosis for rare disease patients;
• Remote care models can enhance treatment and long-term management, especially for underserved populations;
• Telehealth enables more inclusive and efficient rare disease research through remote assessments;
• Innovative virtual education and mentoring models can expand expertise among healthcare providers globally.
While barriers to large-scale implementation remain, there is strong consensus: telehealth is a powerful tool to bridge gaps in access, expertise, and equity in rare disease care. This paper synthesizes these insights and highlights critical evidence and knowledge gaps that future research must address to fully unlock telehealth’s potential.
Read the full paper, available open access: https://journals.sagepub.com/doi/10.1177/26330040261427023
More information about Telehealth Task Force: htthttps://irdirc.org/telehealth-task-force/
