Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting

Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for u...

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Bibliographic Details
Main Authors: Crockett, David K, Ridge, Perry G, Wilson, Andrew R, Lyon, Elaine, Williams, Marc S, Narus, Scott P, Facelli, Julio C, Mitchell, Joyce A
Format: Online
Language:English
Published: BioMed Central 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506914/
Description
Summary:Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for uncertain or novel gene variants in an objective manner. Here, complementary predictors for missense gene variants were incorporated into a weighted Consensus framework that includes calculated reference intervals from known disease outcomes. Data visualization for clinical reporting is also discussed.

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