Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications

Circulation. Genomic and Precision Medicine
Lydia D HellwigWilliam Mp Klein

Abstract

Clinical genetic testing for heritable cardiovascular disease has become a widely used tool to aid in the management of patients and their families. A 5-category variant classification system is commonly used for genetic test results, but some laboratories further subclassify variants of uncertain significance. How and whether patients perceive differences among the variant categories or subclassifications of variants of uncertain significance is unknown. We tested whether participants perceived differences in genetic variant subclassifications on outcomes including risk comprehension, risk perception, worry, perceived uncertainty, and intentions. Order-randomized hypothetical cardiovascular genetic results were given to 289 participants enrolled in a genome sequencing study. Three categories of variants were presented to participants: variants of uncertain significance, possibly pathogenic, and likely pathogenic. Responses to the first variant presented were analyzed in a between-groups analysis, and responses to all 3 variants were analyzed in a within-groups analysis. When presented with all 3 results, participants distinguished among the subclassifications on all outcomes (P<0.001). When given only a possibly pathogenic res...Continue Reading

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Citations

Jun 1, 2018·Circulation. Genomic and Precision Medicine·Ana Morales, Ray E Hershberger
Sep 11, 2019·Translational Behavioral Medicine·Kendall L UmsteadBarbara B Biesecker
Oct 2, 2019·Cold Spring Harbor Perspectives in Medicine·Shannon RegoKelly E Ormond
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Jul 25, 2020·Journal of Genetic Counseling·Sara ChernyGregory Webster

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