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The undiagnosed diseases program: Approach to diagnosis
Ellen F Macnamara1, Precilla D'Souza1,
1National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, MD, USA.
Translational Science of Rare Diseases
|June 2, 2020
Summary
The NIH Undiagnosed Diseases Program (UDP) aids patients with rare diseases by providing comprehensive diagnoses. This program utilizes advanced genomic testing and matchmaking to achieve a nearly 30% success rate in complex cases.
Area of Science:
- Genetics
- Rare Diseases
- Medical Diagnostics
Background:
- Undiagnosed and rare diseases affect millions globally.
- Accurate diagnosis is crucial for understanding disease mechanisms and patient care.
- The NIH Undiagnosed Diseases Program (UDP) addresses these challenges.
Purpose of the Study:
- To outline the diagnostic process and success of the NIH UDP.
- To demonstrate strategies for diagnosing challenging rare disease cases.
- To improve understanding of rare disease mechanisms.
Main Methods:
- Comprehensive medical record review.
- Inpatient evaluations.
- Genomic sequencing and advanced testing.
- Patient matchmaking programs.
Main Results:
- The UDP achieves a diagnostic success rate of nearly 30% for highly selective cases.
- Case examples illustrate successful diagnostic pathways.
- The program contributes to a better understanding of disease mechanisms.
Conclusions:
- The NIH UDP offers a successful model for diagnosing rare and undiagnosed conditions.
- Genetic professionals can adapt UDP strategies in clinical and research settings.
- Continued innovation is key to improving diagnosis for challenging cases.
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