Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.

Area of Science:

• Oncology
• Genetics
• Medical Informatics

Background:

• Breast cancer (BC) risk prediction is enhanced by combining clinical and polygenic factors into a combined risk score (CRS).
• The impact of CRS results on real-world patient management strategies remains largely uncharacterized.

Purpose of the Study:

• To evaluate how combined risk score (CRS) results influence clinical management of breast cancer (BC) risk.
• To assess the uptake of enhanced BC screening and genetic counseling based on CRS and Tyrer-Cuzick (TC) risk stratification.

Main Methods:

• Linked deidentified medical/pharmacy claims data with TC and CRS results for BC risk management evaluation.
• Stratified patients into subcohorts based on lifetime risk (≥20% vs. <20%) predicted by CRS and TC.
• Compared rates of screening mammography (SM) in patients <40 years, breast MRI, and genetic counseling (GC) 360 days pre- and post-CRS testing using McNemar tests and logistic regression.

Main Results:

• Subcohorts with ≥20% risk (CRS+ TC+, CRS+ TC-, CRS- TC+) showed significant increases in SM (<40 yrs) and breast MRI post-CRS testing.
• The CRS+ TC+ and CRS+ TC- subcohorts experienced increased rates of genetic counseling.
• The CRS- TC- subcohort showed no significant increase in these management strategies, while other groups demonstrated significantly higher odds of receiving enhanced care.

Conclusions:

• Patients identified with ≥20% lifetime BC risk by either CRS or TC were more likely to receive enhanced management.
• Findings suggest that clinicians actively incorporate CRS results into breast cancer risk management decisions.
• The study highlights the clinical utility of combined risk scores in guiding personalized cancer screening and prevention strategies.