Key Finding: Most participants with pathogenic variants in breast cancer genes would not have been flagged for high-risk screening by clinical risk factors alone or even when combined with polygenic risk scores.
A cohort study has revealed a significant gap between standard clinical risk assessment and genetic testing for identifying women at high risk of breast cancer. The research shows that traditional methods—relying on clinical risk factors or their combination with polygenic risk scores—miss a substantial portion of women who carry pathogenic variants (PVs) in known breast cancer genes.
The study indicates that PV testing identifies a different subset of high-risk women compared to the group identified by conventional clinical risk assessment tools. This means that many women who could benefit from intensive screening and preventive interventions are currently overlooked.
Population-based PV testing may play a critical role in improving risk-based screening programs. The findings highlight that relying solely on clinical risk factors to determine eligibility for genetic testing could leave many at-risk individuals undetected, suggesting a need to consider broader, more inclusive testing strategies.