Early-Stage Breast Cancer: Timing of Genomic Testing

Dr. Allison DiPasquale and Dr. Sonya Reid discuss the advantages and limitations of performing genomic testing on biopsy specimens versus final surgical pathology in early-stage HR-positive, HER2-negative breast cancer. Dr. DiPasquale explains how obtaining genomic information before surgery can help initiate treatment planning, facilitate patient education, and establish expectations regarding adjuvant therapy. Dr. Reid shares her preference for ordering genomic testing on the final surgical specimen, emphasizing that it provides a more comprehensive assessment of tumor biology and reduces the risk of underestimating disease characteristics if higher-grade components are not captured on the initial biopsy. The discussion also highlights situations in which repeat testing may be considered when biopsy findings are discordant with final pathology. Both faculty emphasize the importance of individualizing the timing of genomic testing based on the clinical scenario while maintaining clear communication with patients regarding the purpose, limitations, and role of genomic assay results in guiding early-stage breast cancer treatment decisions.