In an article published in the Journal of Clinical Oncology, researchers from the University of Michigan described gaps in incorporating genetic testing results into treatment decision-Making for early-stage breast cancer. Specifically, the authors related to the chance of finding a variant of uncertain significance, (VUS), which can be as high as 30% in panel gene testing and VUS impact on clinical outcomes.
In the survey, out of six hundred sixty-six patients patients with pathogenic mutations in BRCA1/2 or another gene had the highest rates of bilateral mastectomy (higher risk, 80%; average risk, 85%); however, bilateral mastectomy was also common among patients with genetic variants of uncertain significance (higher risk, 43%; average risk, 51%).
The authors finding, that half of average-risk patients with VUS undergo bilateral mastectomy, suggest a limited understanding of genomic test results and underscore the need for improved tools for understanding genomic data in clinical practice.
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