Genomic Testing At PreventionGenetics
Thursday, November 5, 2021

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Speaker
Dr. Eric Bend

Brief description
The advent of next generation sequencing has changed the field of medical genetics forever. Recent years have seen a massive wave of new disease-gene discovery and increased awareness of phenotype expansion and genetic heterogeneity across disorders. Targeted single-gene testing is no longer the most efficient path to a diagnosis; clinical whole exome- and genome-based tests are the preferred routes.

This talk will explore three flagship testing products offered by PreventionGenetics:
1) Large Comprehensive Panels – Our inclusive Large Comprehensive Panels were created for disorders or phenotype clusters associated with >250 genes. These large gene panels include both well-established disease genes and genes of uncertain significance.
2) Whole Exome Sequencing (WES) – The coding sequence of all disease genes is sequenced with an average of 120x depth of cover. Also included are intronic, pre- and post-coding sequences that have been previously associated with disease.
3) Whole Genome Sequencing – PGnome™ is the ultimate germline DNA Test. It is superior to exome and other genetic tests because it provides sequence of the entire genome, including intronic regions (>35x averaged depth of cover). PGnome has high uniformity with fewer dropped regions than WES. It also improves sensitivity for detection of both single nucleotide variants (SNVs) and structural variants (SVs). Each of these testing strategies has unique strengths and weaknesses. Attendees will achieve a better understanding of which test is best suited to each of their patients.

Biographies
Eric Bend, PhD, FACMG, is an Associate Laboratory Director and the Director of Research and Development at PreventionGenetics. He specializes in epilepsy, obesity, and overgrowth disorders.

Dr. Bend received his undergraduate degree in Biology from Lewis and Clark College, in Portland, OR and his PhD in Neuroscience from the University of Utah. Dr. Bend completed a postdoctoral fellowship at the University of Utah and a clinical molecular genetics fellowship at the Greenwood Genetic Center in South Carolina. The most gratifying part of his work is "solving challenging cases and applying cutting-edge genomic technologies towards a goal of helping families affected by rare disease.

 

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