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The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom
Jessica Guzman1, Elizabeth Lee2, David Draper3
1Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. jessica.guzman@nih.gov.
Children (Basel, Switzerland)
|July 16, 2016
Summary
The Undiagnosed Diseases Program (UDP) developed a collaborative system (UDPICS) to aid researchers, clinicians, and families in diagnosing complex medical cases, particularly in pediatrics. This system facilitates translational research for rare diseases.
Area of Science:
- Medical Informatics
- Rare Diseases
- Translational Research
Background:
- The Undiagnosed Diseases Program (UDP) was established in 2008 to diagnose complex medical cases and advance translational research.
- A significant portion (40%) of UDP cases involve pediatric patients with unique and challenging conditions.
Purpose of the Study:
- To describe the development progress of the Undiagnosed Diseases Program Integrated Collaboration System (UDPICS).
- To outline the design rationale, challenges, and common issues encountered in developing collaborative systems for rare disease research.
Main Methods:
- System development focused on creating a collaborative workspace for researchers, clinicians, and families.
- Progress tracking involved documenting design choices and implementation challenges.
Main Results:
- The UDPICS system aims to enhance collaboration among stakeholders involved in diagnosing and researching undiagnosed diseases.
- The development process identified key challenges and issues relevant to similar collaborative system initiatives.
Conclusions:
- The UDPICS represents a significant step in facilitating collaborative research and diagnosis for undiagnosed diseases.
- Lessons learned from UDPICS development can inform future projects building similar integrated systems for complex medical conditions.
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