Senior Director, Clinical Laboratory Institute for Genomic Medicine/Nationwide Children's Hospital Columbus, Ohio, United States
Description: Reporting of gene fusions has been challenged by inconsistencies in nomenclature and a lack of guidelines for necessary elements to include in gene fusion clinical reports. This session will discuss standardization of gene fusion nomenclature and reporting. Special attention will be given to the updated nomenclature and its role in improving communication across laboratories, clinicians, and data repositories.
Learning Objectives: - Recognize differences in gene fusion nomenclature based on specific detection methods. - Describe current consensus recommendations for standardized exon-level gene fusion nomenclature. - Discuss elements to consider for inclusion in gene fusion reports.
.jpg "Karen Tsuchiya, MD (she/her/hers) photo")