title: Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype.
abstract: Whole genome sequence (WGS) information could soon be routinely available to clinicians to support the personalized care of their patients. At such time, clinical decision support (CDS) integrated into the clinical workflow will likely be necessary to support genome-guided clinical care. Nevertheless, developing CDS capabilities for WGS information presents many unique challenges that need to be overcome for such approaches to be effective. In this manuscript, we describe the development of a prototype CDS system that is capable of providing genome-guided CDS at the point of care and within the clinical workflow. To demonstrate the functionality of this prototype, we implemented a clinical scenario of a hypothetical patient at high risk for Lynch Syndrome based on his genomic information. We demonstrate that this system can effectively use service-oriented architecture principles and standards-based components to deliver point of care CDS for WGS information in real-time.
authors.affiliation: Medical University of South Carolina, Charleston, SC ; University of Utah, Salt Lake City, UT.
authors.forename: Brandon M
authors.initials: BM
authors.lastname: Welch
authors.affiliation: University of Sussex, East Sussex, United Kingdom.
authors.forename: Salvador
authors.initials: S
authors.lastname: Rodriguez-Loya
authors.affiliation: University of Utah, Salt Lake City, UT.
authors.forename: Karen
authors.initials: K
authors.lastname: Eilbeck
authors.affiliation: University of Utah, Salt Lake City, UT.
authors.forename: Kensaku
authors.initials: K
authors.lastname: Kawamoto
mesh_terms: D001483:Base Sequence; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D020000:Decision Support Systems, Clinical; D057286:Electronic Health Records / Q000592:standards; D016678:Genome; D057208:Health Level Seven; D006801:Humans; D051188:Knowledge Bases; D018511:Systems Integration