A new article has been published in the Orphanet Journal of Rare Diseases which reviews the global landscape of Undiagnosed Diseases Programs (UDPs). By identifying commonalities in the diagnostic and research processes of UDPs, the authors were able to assess the strengths, limitations, and potentials of UDPs.
The first formal UDP was established in the United States by the National Institutes of Health (NIH) in 2008. Its goal was to facilitate diagnosis for patients with rare genetic disorders. Following its success, the Undiagnosed Diseases Network International (UDNI) was founded in 2015, and UDPs have been established in many countries around the world.
Researchers identified a total of 13 UDPs located in Australia, Belgium, Canada, Europe, Italy, Japan, Korea, Singapore, South Africa, Spain, Sweden, UK, and US. They defined six steps common to these programmes: enrolment, comprehensive clinical phenotyping, research diagnostics, data sharing and matchmaking, results, and follow-up. Approaches to each of these steps are heterogeneous, and overall diagnostic yield ranged from 3-53%.
