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. 2011 May;32(5):532-6.
doi: 10.1002/humu.21470. Epub 2011 Mar 22.

The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing

Samuel J Aronson  1 , Eugene H Clark, Lawrence J Babb, Samantha Baxter, Lisa M Farwell, Birgit H Funke, Amy Lovelette Hernandez, Victoria A Joshi, Elaine Lyon, Andrew R Parthum, Franklin J Russell, Matthew Varugheese, Thomas C Venman, Heidi L Rehm
Affiliations

The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing

Samuel J Aronson et al. Hum Mutat. 2011 May.

Abstract

The future of personalized medicine will hinge on effective management of patient genetic profiles. Molecular diagnostic testing laboratories need to track knowledge surrounding an increasingly large number of genetic variants, incorporate this knowledge into interpretative reports, and keep ordering clinicians up to date as this knowledge evolves. Treating clinicians need to track which variants have been identified in each of their patients along with the significance of these variants. The GeneInsight(SM) Suite assists in these areas. The suite also provides a basis for interconnecting laboratories and clinicians in a manner that increases the scalability of personalized medicine processes.

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Figures

Figure 1
Figure 1
Specifying Selection Rules Associated with a Template. This functionality enables users to specify conditions that must be met for a template to be included in a report.
Figure 2
Figure 2
An example template. Dynamic variables within the text block appear as ${VariableName}. These are replaced with case specific information when a report is drafted. Colored text is only included if an associated rule is met. A means of underlining text associated with a rule is provided to enable color blind individuals to operate the system. ${IncludeTemplate…} is an example of a link to another template which generates text to support the variant interpretation.
Figure 3
Figure 3
Examples of conditional rules associated with template text. These rules are applied to specific text within a template. The text in the template is color coded to match the rule. The “Show” link can also be used to underline the associated text for color blind individuals. These rules are evaluated for each case and the associated text is only included in the report if the conditions are met.
Figure 4
Figure 4
The GeneInsight Clinic Patient Screen. Treating providers can use this screen to review genetic reports associated with a patient. The box highlights a knowledge change.
See this image and copyright information in PMC

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