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A scientific approach to multi-gene panel testing design: an overview of hereditary cardiovascular testing

Session:

#8

Date:

Thursday, Jun 29, 2017 12:00pm – 6:00pm

Conference:

—

Authors:

Bess Wayburn, Brigette Tippin Davis, Devon Lamb Thrush, Erica Smith, Kelly Farwell Hagman, Melissa Para, Sourat Darabi, Tami Johnston, Tricia Zion

To design multi-gene panel testing, proper gene vetting process is required to support detection rates
13% of the genes in a combined 106 gene hereditary cardiology panel have limited clinical validity score
42% of the genes have definitive clinical validity with nearly 12 mutations/VLPs per gene
only one VLP was identified in the genes with limited clinical validity