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.
Highlights
The use of whole genome sequence (WGS) information for routine clinical care will greatly enhance the possibilities of personalized medicine, which include: (1) improving diagnostic accuracy and disease characterization; (2) targeting therapies to individuals; (3) identifying and preventing disease among high-risk individuals; (4) improving healthcare efficiency; and (5) reducing unnecessary costs [1,2]
While this is an intriguing prospect for patients, clinicians and researchers, significant barriers exist, which may hinder the effective use of WGS information in a routine clinical care setting
An objective of the proposed clinical decision support (CDS) architecture for WGS information is to satisfy the requirements in the technical desiderata [19,20]
Summary
The use of whole genome sequence (WGS) information for routine clinical care will greatly enhance the possibilities of personalized medicine, which include: (1) improving diagnostic accuracy and disease characterization; (2) targeting therapies to individuals; (3) identifying and preventing disease among high-risk individuals; (4) improving healthcare efficiency; and (5) reducing unnecessary costs [1,2]. It is anticipated that WGS information will soon be available for routine clinical care, enabling personalized medicine on a widespread scale [8] While this is an intriguing prospect for patients, clinicians and researchers, significant barriers exist, which may hinder the effective use of WGS information in a routine clinical care setting. These barriers include: (1) static laboratory reports intended for human consumption; (2) the complexity of genetic analysis; (3) limited physician proficiency in genetics; and (4) the lack of genetics professionals in the clinical workforce [9]. There may be several approaches to overcome these barriers, we believe clinical decision support (CDS) provided within the clinical workflow provides the greatest opportunity to enable the effective use of WGS information in a routine clinical setting [9,10]
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