Comment from Anonymous

The Food and Drug Administration has an important opportunity to focus these workshops on the real-world challenges that make it difficult to bring rare disease innovation into everyday care. Two areas in particular deserve attention: (1) how rare diseases are identified and managed within normal clinical workflows, and (2) how access to expertise and advanced care can be expanded beyond major academic centers. Clinical and Operational Challenges In many rare diseases, patients remain difficult to identify within existing systems. Electronic health records (EHRs) are not consistently configured to flag or track these patients, and care is often spread across multiple specialties without clear coordination. This leads to delays in diagnosis and inconsistent management. At the same time, many newer diagnostics and therapies are complex to implement. They often require workflows and resources that do not fit easily into standard hospital operations, which can slow or limit adoption even when the science is strong. Workshops would be especially useful if they focus on: Practical ways to identify rare disease patients within EHR systems How to better integrate rare disease care into routine clinical workflows Approaches that support care coordination without adding unnecessary burden to providers Access and Scalability Access to rare disease expertise and advanced care still varies widely depending on where a patient receives care. Those outside large academic medical centers often face delays in diagnosis, referral, and treatment. Many health systems, especially in community-based settings, lack the infrastructure, specialized staff, or care models needed to effectively support patients with rare diseases. This limits the reach of new innovations and creates uneven access to care. Workshops should also focus on: Scalable ways to extend rare disease expertise into community and regional settings Practical models for multidisciplinary care and coordination What infrastructure is needed to support broader use of advanced diagnostics and therapies Conclusion Through the FDA Rare Disease Innovation Hub, the FDA is well-positioned to bring stakeholders together and focus on solutions that work in real-world settings. Keeping the focus on practical, scalable approaches will be key to making sure advances in rare disease science actually reach patients in a meaningful way. Thank you for the opportunity to provide input.