Variant Assessment for Reduced Penetrance Diseases with Elizabeth Chao, MD, FACMG

  • Heritable disorders can often be linked back to a specific gene or genetic variant which transmits the risk of disease across generations. In most cases, the penetrance, or risk of being affected by disease, for a pathogenic variant carrier is less than 100%. For an increasing number of disorders, the penetrance is even lower (20-50%), which begins to confound our ability to understand the relationship between disease risk and a specific genetic variant. At this level, classical tools, including family and functional studies, for assessment of variant pathogenicity loose power. This webinar will address the utility of the  different lines of evidence in the classification of variants in moderate penetrance disease, and recommended modifications  to multivariate analysis in this setting.  Increasing the sensitivity to such nuances in variant classification is critical if we are to improve the impact and utility of genetic testing across greater segment of the population.

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Elizabeth Chao, MD, FACMG - Headshot


Elizabeth Chao, MD, FACMG is a clinical and molecular geneticist and  an Assistant Professor of Genetics and Genomics at the University of California, Irvine, where her research program focuses on the development and implementation of genomic testing in to manage rare pediatric disease and hereditary cancer risk. Dr. Chao also works as a part-time Laboratory Director at Ambry Genetics focused on testing for hereditary cancer risk. She completed her specialty training in Clinical and Molecular Genetics at UC Irvine and the Children's Hospital of Philadelphia, and previously served as the  Associate  Director of the Genetic Diagnostic Laboratory at the University of Pennsylvania. She continues to be very active in the broader genetics community as a member of the ACMG’s Laboratory Quality Assurance Committee and a number of ClinGen expert panels and working groups on the classification genomic variants in hereditary cancer syndromes.


Ms. Pesaran was previously a clinical cancer genetic counselor for 8 years. She is currently the head of Ambry’s Variant Assessment Program, a multi-disciplinary team of scientists focused on complex variant assessment. She also leads our reclassification and family studies programs. Ms. Pesaran’s current research interests include gene and disease specific classification nuances and the improvement of variant classification using novel methods.

  • Fri, January 11, 2019
  • 12:00pm PST
  • Duration: 1 hour
  • C.E.U.
    1 Category 1 Contact Hour
  • P.A.C.E. 1 unit

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