2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Q&A - Leading in Variant Assessment: The Future is Now

Video Transcription

Video Summary

In a video transcript, Jessica Profato, a genetic counselor and senior manager of product management at Ambre Genetics, moderates a discussion with two variant scientists, Tina Pessaron and Marcy Richardson. They discuss the importance of improving variant assessment in genetic testing and genetics. Tina explains recent improvements in variant assessment, such as better defining the framework for weighing certain variant types and understanding evidence types. Marcy discusses the impact of functional studies and the inclusion of RNA analysis on variant assessment. They also discuss the role of artificial intelligence (AI) in variant interpretation, emphasizing the need for caution and the importance of clinical correlation. Collaboration and partnerships across labs, academia, and clinical care sites are highlighted as crucial for driving better variant assessment approaches. The panel also discusses the challenges of variant assessment in underserved and under-tested populations and the efforts being made to improve access and increase data for more accurate variant classification. The video was moderated by Jessica Profato and features variant scientists Tina Pessaron and Marcy Richardson from Ambre Genetics.

Asset Subtitle

Ambry Genetics

Keywords

variant assessment

genetic testing

functional studies

artificial intelligence

clinical correlation

underserved populations