O38: Patient-centered, multidisciplinary, centralized, longitudinal clinical and genomic follow-up: Development and evaluation in the Undiagnosed Diseases Network (UDN)

Participants with undiagnosed rare diseases often face prolonged diagnostic odysseys and uncertainty about if or when their cases will be re-evaluated. Systematic reinterpretation of genomic and clinical data is known to improve diagnostic rates. We aimed to develop a scalable and replicable process for longitudinal clinical and genomic follow-up in ongoing research, specifically investigating how to prioritize cases, optimize workflow for case review, and assess diagnostic outcomes for participants.