Variants of uncertain significance (VUS) are an aspect of genetic testing that is often seen as a challenge. How do I explain this result to my patient? Does this result change how I manage a patient? Often, there is not enough information to determine if a particular variant is related to a given phenotype. The identification of a VUS can be challenging for both the clinician and patient.
This webinar describes how variants are classified and reviews current guidelines for different variant classifications. In certain cases, additional studies within the family may allow for reclassification of a variant. We review possible next steps to assist with variant reclassification. Finally, this webinar reviews the importance of transparent variant interpretation practices and briefly discusses future directions of variant interpretation.
Educational goals for this webinar:
- Participants will be able to describe how genetic variants are classified
- Understand what variants of uncertain significance mean for patients and providers
- Identify possible next steps for reclassifying variants of uncertain significance
- Discuss the importance of transparent variant interpretation practices
Blueprint Academy is an educational resource for healthcare professionals and organizations, patients and the scientific community. We publish informative and empowering content, webinars and white papers from the world of genetics. #geneticknowledge
Webinar video and content: Copyright © 2020 Blueprint Genetics. All trademarks are property of their respective owners.
Jennifer Schleit, PhD, FACMG, received a PhD in pathology from the University of Washington in Seattle. She completed a clinical fellowship at the University of Washington and received her certification in clinical molecular genetics from the American Board of Medical Genetics and Genomics (ABMGG). Dr Schleit served as an Assistant Director at the Center for Precision Diagnostics at the University of Washington before accepting a position as senior geneticist at Blueprint Genetics in 2017. Her last position at Blueprint Genetics was as Laboratory Director of the Seattle facility until September 2022.