The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families

Jessica Guzman; Elizabeth Lee; David Draper; Zaheer Valivullah; Guoyun Yu; Murat Sincan; William A Gahl; David R Adams

doi:10.3390/children2030342

The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families

Children (Basel). 2015 Jul 31;2(3):342-57. doi: 10.3390/children2030342.

Authors

Jessica Guzman¹, Elizabeth Lee², David Draper³, Zaheer Valivullah⁴, Guoyun Yu⁵, Murat Sincan⁶, William A Gahl^{7

8}, David R Adams^{9

10}

Affiliations

¹ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. jessica.guzman@nih.gov.
² Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. elizabeth.lee3@nih.gov.
³ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. draperd@mail.nih.gov.
⁴ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. zaheer.valivullah@nih.gov.
⁵ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. guoyun.yu@nih.gov.
⁶ National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA. sincanm@mail.nih.gov.
⁷ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. gahlw@helix.nih.gov.
⁸ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. gahlw@helix.nih.gov.
⁹ Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA. david.adams@nih.gov.
¹⁰ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. david.adams@nih.gov.

Abstract

The Undiagnosed Diseases Program (UDP) was started in 2008 with the goals of making diagnoses and facilitating related translational research. The individuals and families seen by the UDP are often unique and medically complex. Approximately 40% of UDP cases are pediatric. The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS) was designed to create a collaborative workspace for researchers, clinicians and families. We describe our progress in developing the system to date, focusing on design rationale, challenges and issues that are likely to be common in the development of similar systems in the future.

Keywords: UDPICS; Undiagnosed Diseases Network; Undiagnosed Diseases Program; collaboration software; informatics; rare disease.