title: Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
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.
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: Amanda E
authors: AE
authors: Links
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: David
authors: D
authors: Draper
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: Elizabeth
authors: E
authors: Lee
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: Jessica
authors: J
authors: Guzman
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: Zaheer
authors: Z
authors: Valivullah
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: Valerie
authors: V
authors: Maduro
authors: RURO, Inc. , Frederick, MD , USA.
authors: Vlad
authors: V
authors: Lebedev
authors: RURO, Inc. , Frederick, MD , USA.
authors: Maxim
authors: M
authors: Didenko
authors: RURO, Inc. , Frederick, MD , USA.
authors: Garrick
authors: G
authors: Tomlin
authors: Centre for Computational Medicine Hospital for Sick Children, Toronto, ON, Canada; Department of Computer Science, University of Toronto, Toronto, ON, Canada.
authors: Michael
authors: M
authors: Brudno
authors: Centre for Computational Medicine Hospital for Sick Children, Toronto, ON, Canada; Department of Computer Science, University of Toronto, Toronto, ON, Canada.
authors: Marta
authors: M
authors: Girdea
authors: Centre for Computational Medicine Hospital for Sick Children , Toronto, ON , Canada.
authors: Sergiu
authors: S
authors: Dumitriu
authors: Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University , Portland, OR , USA.
authors: Melissa A
authors: MA
authors: Haendel
authors: Lawrence Berkeley National Laboratory, Division of Environmental Genomics and Systems Biology , Berkeley, CA , USA.
authors: Christopher J
authors: CJ
authors: Mungall
authors: Department of Clinical Pharmacology, Queen Mary University London , London , UK.
authors: Damian
authors: D
authors: Smedley
authors: Department of Biomedical Informatics and Intelligent Systems, University of Pittsburgh , Pittsburgh, PA , USA.
authors: Harry
authors: H
authors: Hochheiser
authors: Agilent Technologies, Inc. , Santa Clara, CA , USA.
authors: Andrew M
authors: AM
authors: Arnold
authors: Agilent Technologies, Inc. , Santa Clara, CA , USA.
authors: Bert
authors: B
authors: Coessens
authors: Agilent Technologies, Inc. , Santa Clara, CA , USA.
authors: Steven
authors: S
authors: Verhoeven
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: William
authors: W
authors: Bone
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: David
authors: D
authors: Adams
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: Cornelius F
authors: CF
authors: Boerkoel
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: William A
authors: WA
authors: Gahl
authors: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
authors: Murat
authors: M
authors: Sincan
keywords: information system; ontology-based phenotyping; precision medicine; process management system; translational research