The Utility of Clinical Validity with Bess Wayburn, PhD, CGC

  • In this presentation, we will explore the benefits and current efforts towards curating gene-disease associations. Specifically, how the standardized and continual assessment of clinical validity can aid in accurate variant assessment and designing and updating panels with defined clinical utility. We will describe the application of clinical validity databases for (1) creating curated gene lists based on phenotype for inclusion on multi-gene panels, (2) variant prioritization based on patient-specific clinical overlap, and (3) proactive variant reclassification for newly characterized genes for both exome and exome-based panel tests.  We will also discuss some of the current gaps in clinical validity assessment, particularly in terms of defining a gene-disease pair and how to evaluate mechanism of disease.

    Level of Instruction: Intermediate

Sr. Genetic Counselor, Reporting- Rare Disease: Exome and Microarray

Bess Wayburn is a Board Certified Genetic Counselor with a B.S. in Cellular and Molecular Biology from the University of Michigan and a Ph.D. in Molecular Genetics from the Weizmann Institute of Science.  Previously, Dr. Wayburn worked as a Biologist at an in silico modeling company helping to synthesize scientific data in the literature to inform the design of computer models of human immunological disease used primarily to simulate clinical trials.  Her love of genetics took her back to graduate school where she received an M.S. in Genetic Counseling from the University of Pittsburgh.  Bess then joined Ambry Genetics in 2016 as a Gene Characterization Analyst on the Launch Team where she helped to develop and update multi-gene panel tests through the assessment of gene-disease relationships using a clinical validity scoring system across a variety of disease areas, including oncology, cardiovascular, neurology, and general genetics.  Currently, she is a Senior Genetic Counselor focusing on curating Ambry’s internal clinical validity database as well as reporting SNP microarray and cardiovascular disease panels and performing Exome analysis. In addition, she is a member of the ClinGen Syndromic Disorders Gene Curation Expert Panel.

Genomic Science Liaison, Ambry Genetics

Susan Toomey joined Ambry Genetics in 2017 as the General Genetic Specialist for the Mountain and Pacific Northwest territories. Susan received her Masters of Science Degree in Biophysics and Genetics from the University of Colorado; and holds a BA in Sociology and Evolutionary Science from the University of Cincinnati. She has held previous genetic counseling positions at the Colorado Genetics Laboratory, Colorado Center for Reproductive Medicine, and the Children’s Hospital Colorado in the Neurocutaneous and Neuromuscular Clinics.

  • Thu, June 10, 2021
  • 11:00am PDT
  • Duration: 1 hour
  • C.E.U.
    1 Category 1 Contact Hour
  • P.A.C.E. 1 unit

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