CGI presented its work on how pathogenic variant classifications are not always well-supported by evidence. Working together with genetic counselors from Rocky Mountain Cancer Centers and Texas Oncology, CGI collected de-identified patient reports and examined the variant classification evidence claims compared to the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. CGI found that several variant reports did not actually have enough evidence reported to support the pathogenic or likely pathogenic classification given by the testing laboratories. Although this study represents a single case study, the findings raise questions about classification accuracy among genetic testing laboratories. CGI plans to follow up with the laboratories that issued the reports to request whether additional unlisted information helped determine the initial classifications. View the submitted poster here.
Many Positive Variant Classifications May Be Unsupported by Evidence: CGI Presentation at NSGC Conference
