Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed...

Area of Science:

• Translational research
• Medical informatics
• Genomic medicine

Background:

• The National Institutes of Health Undiagnosed Diseases Program (NIH UDP) faces challenges in implementing scalable information systems for diagnosing undiagnosed diseases.
• Translational research requires efficient data management and collaboration across disciplines.

Purpose of the Study:

• To develop an integrated information system to support scalable translational research for diagnosing undiagnosed diseases.
• To address the complex research and logistical problems within the NIH UDP.

Main Methods:

• Development of the NIH UDP Integrated Collaboration System (UDPICS).
• UDPICS integrates process management, ontology-based phenotyping, biospecimen management, cloud-based genomic analysis, and an electronic laboratory notebook.
• Formation of virtual collaborative multidisciplinary research networks (communities) supported by UDPICS.

Main Results:

• UDPICS facilitates efficient, transparent, and scalable translational research.
• The system addresses diverse research and logistical challenges faced by the NIH UDP.
• UDPICS supports the formation and operation of multidisciplinary research communities.

Conclusions:

• The developed information system, UDPICS, provides a mechanism for efficient and scalable translational research.
• Further evaluation through formal usability and process improvement measurements is needed to fully define UDPICS's strengths and deficiencies.
• UDPICS demonstrates a viable approach to managing complex problems in undiagnosed diseases research through process management and collaborative networks.