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A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information

Overview
Journal J Pers Med
Date 2014 Nov 21
PMID 25411644
Citations 6
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Abstract

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.

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References
1.
Cook-Deegan R, Conley J, Evans J, Vorhaus D . The next controversy in genetic testing: clinical data as trade secrets?. Eur J Hum Genet. 2012; 21(6):585-8. PMC: 3658186. DOI: 10.1038/ejhg.2012.217. View

2.
Hu H, Huff C, Moore B, Flygare S, Reese M, Yandell M . VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Genet Epidemiol. 2013; 37(6):622-34. PMC: 3791556. DOI: 10.1002/gepi.21743. View

3.
Stenson P, Mort M, Ball E, Howells K, Phillips A, Thomas N . The Human Gene Mutation Database: 2008 update. Genome Med. 2009; 1(1):13. PMC: 2651586. DOI: 10.1186/gm13. View

4.
Talkowski M, Ordulu Z, Pillalamarri V, Benson C, Blumenthal I, Connolly S . Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012; 367(23):2226-32. PMC: 3579222. DOI: 10.1056/NEJMoa1208594. View

5.
Teich J, Osheroff J, Pifer E, Sittig D, Jenders R . Clinical decision support in electronic prescribing: recommendations and an action plan: report of the joint clinical decision support workgroup. J Am Med Inform Assoc. 2005; 12(4):365-76. PMC: 1174880. DOI: 10.1197/jamia.M1822. View