This educational webinar has reached an all time high in popularity, now we are coming back with the same topic with boosted content!
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
Dr. Jennifer Schleit grew up in Yarmouth, Nova Scotia. Her fascination with genetics began at an early age due to a classmate having a rare inherited neurodegenerative disorder. She received a Bachelor of Science with Honours in Biochemistry and Microbiology from Dalhousie University and a PhD in Pathology from the University of Washington in Seattle, Washington, USA. Following her graduate education, Dr. Schleit 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). She has performed research in multiple fields including aging, protein biochemistry, cancer, and connective tissue disorders. Dr. Schleit served as an Assistant Director at an academic genetic testing laboratory before accepting a position as Senior Geneticist at Blueprint Genetics. In May 2019 Dr. Schleit was named the laboratory director of the new Blueprint Genetics NGS laboratory located in Seattle, WA.