Scoping Review of Models and Successful Implementation Experiences of HealthTech Solutions in rare diseases

Rare diseases (RDs) pose significant challenges to healthcare systems due to their low prevalence, which hampers timely diagnosis and the generation of robust clinical evidence. In Colombia, underreporting and fragmented data further complicate the management and comprehensive care of individuals with RDs. Advances in health technologies, Big Data, and omics approaches have shown promise in enhancing the early detection, remote care, and personalized treatment of genetically based RDs. Mobile applications, telemedicine, and genetic sequencing are increasingly used to reduce diagnostic delays and improve equity in access to care. However, the implementation of these technologies in rural areas remains difficult due to infrastructure and connectivity limitations. This study aims to conduct a scoping review to identify existing models and experiences in the implementation of digital health solutions focused on patients with rare genetic diseases. The review will map available evidence, evaluate methodological approaches, and identify key barriers, opportunities, and insights to inform future implementation strategies.