4.5 Review

International Undiagnosed Diseases Programs (UDPs): components and outcomes

Journal

ORPHANET JOURNAL OF RARE DISEASES
Volume 18, Issue 1, Pages -

Publisher

BMC
DOI: 10.1186/s13023-023-02966-1

Keywords

Undiagnosed Diseases Programs; Rare diseases; Genomics

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This article reviews the published literature on Undiagnosed Diseases Programs worldwide and evaluates the diagnostic and research process. The study finds that Undiagnosed Diseases Programs have potential in research diagnostics, allowing for more in-depth diagnostic approaches using research-grade bioinformatics tools and multi-omics technologies. However, due to different enrollment criteria and reporting processes, it is challenging to compare the diagnostic yield across studies. Further comparisons and exploration of Undiagnosed Diseases Programs worldwide are needed to improve their value and utility.
Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care to optimize diagnostic outcomes. This narrative review summarizes the published literature surrounding Undiagnosed Diseases Programs worldwide, including thirteen studies that evaluate outcomes and two commentary papers. Commonalities in the diagnostic and research process of Undiagnosed Diseases Programs are explored through an appraisal of available literature. This exploration allowed for an assessment of the strengths and limitations of each of the six common steps, namely enrollment, comprehensive clinical phenotyping, research diagnostics, data sharing and matchmaking, results, and follow-up. Current literature highlights the potential utility of Undiagnosed Diseases Programs in research diagnostics. Since participants have often had extensive previous genetic studies, research pipelines allow for diagnostic approaches beyond exome or whole genome sequencing, through reanalysis using research-grade bioinformatics tools and multi-omics technologies. The overall diagnostic yield is presented by study, since different selection criteria at enrollment and reporting processes make comparisons challenging and not particularly informative. Nonetheless, diagnostic yield in an undiagnosed cohort reflects the potential of an Undiagnosed Diseases Program. Further comparisons and exploration of the outcomes of Undiagnosed Diseases Programs worldwide will allow for the development and improvement of the diagnostic and research process and in turn improve the value and utility of an Undiagnosed Diseases Program.

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