Considerations of Disease Specific Criteria for Variant Classification on Cardiogenetic Panels

Thursday, September 7, 2023

4:00am PDT

1 hour

C.E.U.: 1 Category 1 Contact Hour

P.A.C.E.: 1 Unit

This webinar will review published clinical recommendations for a variety of cardiac genetic conditions. We will also review the relationship between gene classification and gene disease validity scoring and how disease specific variant curation standards can impact the reclassification of cardiogenetic variants over time.

Level of Instruction: Intermediate

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Meghan Towne

Genetic Counselor, Reporting – Clinical Genomics

After obtaining her B.S. in biology with a minor in chemistry from Boston College in 2007, Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital developing the institutional infrastructure for gene discovery, enhancing research collaborations, and evaluating the utility of genomic sequencing in newborns. In 2016, Meghan joined Ambry as a reporting genetic counselor on the clinical genomics team. She maintains her research connections to the Boston community by serving as a voting member of the Massachusetts General Hospital IRB and as a course coordinator for research seminar series at Boston University.