AUTHOR=Links Amanda E. , Draper David , Lee Elizabeth , Guzman Jessica , Valivullah Zaheer , Maduro Valerie , Lebedev Vlad , Didenko Maxim , Tomlin Garrick , Brudno Michael , Girdea Marta , Dumitriu Sergiu , Haendel Melissa A. , Mungall Christopher J. , Smedley Damian , Hochheiser Harry , Arnold Andrew M. , Coessens Bert , Verhoeven Steven , Bone William , Adams David , Boerkoel Cornelius F. , Gahl William A. , Sincan Murat TITLE=Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience JOURNAL=Frontiers in Medicine VOLUME=3 YEAR=2016 URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2016.00039 DOI=10.3389/fmed.2016.00039 ISSN=2296-858X ABSTRACT=

The National Institutes of Health Undiagnosed Diseases Program (NIH UDP) applies translational research systematically to diagnose patients with undiagnosed diseases. The challenge is to implement an information system enabling scalable translational research. The authors hypothesized that similar complex problems are resolvable through process management and the distributed cognition of communities. The team, therefore, built the NIH UDP integrated collaboration system (UDPICS) to form virtual collaborative multidisciplinary research networks or communities. UDPICS supports these communities through integrated process management, ontology-based phenotyping, biospecimen management, cloud-based genomic analysis, and an electronic laboratory notebook. UDPICS provided a mechanism for efficient, transparent, and scalable translational research and thereby addressed many of the complex and diverse research and logistical problems of the NIH UDP. Full definition of the strengths and deficiencies of UDPICS will require formal qualitative and quantitative usability and process improvement measurement.