Associate Professor Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA Newport Beach, California, United States
In this presentation I will review the ACMG points to consider on acquired variants in germline genetic testing. We will focus on factors which influence a priori risk for acquired variants as well as additional variant data which can be integrated in the risk assessment such as gene, variant classification, allelic fraction, etc. for the presence of acquired variants. And finally, I will review case examples and considerations for counseling and management.
Recognize risk factors for acquired variant identification Apply ACMG Points to Consider in laboratory and clinical assessments Manage and counsel patients most appropriately based on risk for acquired variants vs genetic diagnosis
