Personalized Screening and Prevention Based on Genetic Risk of Breast Cancer

Purpose of Review This paper discusses personalized risk assessment and screening, incorporating genetic and radiomic breast cancer risk information. The paper further explores opportunities to incorporate genomic information into traditional risk assessment tools, to improve the discriminatory accuracy of these tools, and integrate the information into clinical decision-making. Recent Findings We summarize screening guidelines, strategies for identifying high risk women and discuss clinical validation studies of polygenic risk scores (PRSs). We describe the options for supplemental imaging. Both sensitivity and specificity are improving in this area, and testing is more available. Summary Personalized screening and chemoprevention will only be possible with improved risk estimates (including breast density and PRS), meaningful, consistent shared-decision making conversations, and widespread availability of modalities for supplemental imaging. Future directions include earlier genetic testing and further validation of the PRS, particularly in non-European populations, a focus on breast density and texture in risk estimation and management and education efforts around risk communication.