Genetic Variant Interpretation & Understanding genetic test reports

May 13, 2025
12:00 pm to 1:00 pm
Virtual

Event sponsored by:

Precision Genomics Collaboratory
Duke Clinical and Translational Science Institute (CTSI)
School of Medicine (SOM)

Contact:

Susanne Haga

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Speaker:

Ludmila Francescatto
This seminar will explore how genetic variants are classified and interpreted in clinical practice, with a focus on standards established by professional organizations such as the American College of Medical Genetics and Genomics (ACMG). Participants will learn about the different categories of variant pathogenicity (e.g., pathogenic, likely pathogenic, VUS, etc.), how variants are reported by clinical laboratories, and how to critically read and interpret sequencing-based genetic test reports.

Precision Health Academy