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J Pers Med. 2014 Apr 4;4(2):176-99. doi: 10.3390/jpm4020176.

A proposed clinical decision support architecture capable of supporting whole genome sequence information.

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Program in Personalized Health Care, University of Utah, 15 North 2030 East, EIHG Room 2110, Salt Lake City, UT 84112, USA ; Department of Biomedical Informatics, University of Utah, 26 South 2000 East, Room 5775 HSEB, Salt Lake City, UT 84112, USA.
School of Engineering and Informatics, University of Sussex, Shawcross Building, Room Gc4, Falmer, Brighton, East Sussex, BN1 9QT, UK.
Department of Biomedical Informatics, University of Utah, 26 South 2000 East, Room 5775 HSEB, Salt Lake City, UT 84112, USA.


Whole genome sequence (WGS) information may soon be widely available to help clinicians personalize the care and treatment of patients. However, considerable barriers exist, which may hinder the effective utilization of WGS information in a routine clinical care setting. Clinical decision support (CDS) offers a potential solution to overcome such barriers and to facilitate the effective use of WGS information in the clinic. However, genomic information is complex and will require significant considerations when developing CDS capabilities. As such, this manuscript lays out a conceptual framework for a CDS architecture designed to deliver WGS-guided CDS within the clinical workflow. To handle the complexity and breadth of WGS information, the proposed CDS framework leverages service-oriented capabilities and orchestrates the interaction of several independently-managed components. These independently-managed components include the genome variant knowledge base, the genome database, the CDS knowledge base, a CDS controller and the electronic health record (EHR). A key design feature is that genome data can be stored separately from the EHR. This paper describes in detail: (1) each component of the architecture; (2) the interaction of the components; and (3) how the architecture attempts to overcome the challenges associated with WGS information. We believe that service-oriented CDS capabilities will be essential to using WGS information for personalized medicine.


clinical decision support systems; electronic health records; genetic testing; genomics; health information technology; medical genetics; personalized medicine; service-oriented architecture

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