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International Undiagnosed Diseases Programs (UDPs): components and outcomes
Ela Curic1, Lisa Ewans1,2,3, Ryan Pysar1,2,4
1Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.
Orphanet Journal of Rare Diseases
|November 10, 2023
Summary
Undiagnosed Diseases Programs (UDPs) integrate research and clinical care to diagnose rare genetic diseases. Reviewing global UDPs highlights common steps and their strengths, improving diagnostic yields for complex cases.
Area of Science:
- Genetics
- Rare Diseases
- Medical Diagnostics
Background:
- Undiagnosed Diseases Programs (UDPs) have emerged globally over 15 years.
- They address the unmet need for diagnosing rare genetic diseases.
- UDPs integrate research and clinical care to improve diagnostic outcomes.
Purpose of the Study:
- To review and summarize the published literature on Undiagnosed Diseases Programs worldwide.
- To explore commonalities in the diagnostic and research processes of UDPs.
- To assess the strengths and limitations of key steps within UDPs.
Main Methods:
- Narrative review of published literature on UDPs.
- Inclusion of thirteen outcome-evaluating studies and two commentary papers.
- Appraisal of six common UDP steps: enrollment, phenotyping, research diagnostics, data sharing, results, and follow-up.
Main Results:
- Current literature emphasizes the utility of UDPs in research diagnostics.
- Research pipelines enable advanced diagnostic approaches beyond standard sequencing (e.g., multi-omics).
- Diagnostic yield varies, reflecting UDP potential but challenging direct comparisons.
Conclusions:
- UDPs show significant potential for diagnosing rare genetic diseases.
- Further global outcome comparisons are needed to refine UDP processes.
- Improving UDPs enhances their value and utility in rare disease diagnosis and research.
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