As the volume of DNA sequencing increases, so does the need to accurately and efficiently interpret genetic variants identified using this technology. Variant interpretation remains a challenging aspect of genetic testing due to the significant amount of expertise and time required for this task. Studies have also demonstrated that although detailed guidelines for the interpretation of genetic variants exist, they are often inconsistently implemented between genetic testing labs.
This webinar will describe a points-based classification scheme based on the ACMG guidelines. By simplifying the variant interpretation process, our goal is to increase interpretation accuracy and consistency between geneticists. We will present new advances in software that increase the efficiency of variant interpretation. These advances provide geneticists with an easy to use interface for displaying variant information while also providing quick access to additional external interpretation resources, such as variant and population databases. Finally, this webinar will review the importance of transparent variant interpretation practices and will briefly discuss future directions of variant interpretation. The goals of this multifaceted approach are to reduce the time and effort required for variant interpretation and increase consistency between individuals performing this task.
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.