A Comprehensive Way to Estimate False Positive Rates in Genetic Testing: CGI Presentation at NSGC Conference

Nov 23, 2020 | News

At the National Society of Genetic Counselors Annual Education Conference, CGI presented a poster on “Calculating and Communicating Error Estimates for Pathogenic Variant Classifications in Germline Sequence Tests.” The poster focused on CGI’s creation of a Positive Predictive Value calculator to help clinicians understand the validity of rare variant classification, as well as the creation of patient discussion frameworks to communicate that uncertainty. The calculator is being further developed in a collaboration between CGI and Statistics without Borders. The annual NSGC conference focuses on presenting best practices for the genetic counseling industry as well as emerging research in clinical genetics. View the poster here.