Myriad Genetics, Inc. announced on May 7, 2025, that JCO Precision Oncology has published a real-world study demonstrating how their RiskScore® breast cancer risk assessment tool is influencing clinical practice. The study suggests that RiskScore results are leading healthcare providers to recommend breast cancer screening protocols that align with patients' individual risk profiles.
RiskScore, which is integrated into Myriad's MyRisk® Hereditary Cancer Test, combines a polygenic risk score (PRS) validated across all ancestries with the widely-used Tyrer-Cuzick model to predict both five-year and lifetime breast cancer risk.
Key Study Findings
The research, titled "Association of Polygenic-based Breast Cancer Risk Prediction with Patient Management," revealed several significant findings:
- RiskScore predicted different risk levels than the Tyrer-Cuzick model alone for nearly 20% of patients
- Patients identified with ≥20% lifetime risk of breast cancer through RiskScore were significantly more likely to receive guidelines-aligned screening interventions
- These higher-risk patients more frequently underwent mammography (for those under 40), breast MRI, and genetic counseling compared to patients with <20% lifetime risk
- The data strongly suggests that clinicians are incorporating RiskScore results into their patient management decisions
Dr. Allison Kurian, Professor of Medicine and of Epidemiology and Population Health at Stanford University School of Medicine and senior author of the study, noted the importance of these findings: "Polygenic-based risk predictors are relatively new, and few data have been gathered about how they are being used in clinical practice. This study offered reassurance that patients undergo appropriate breast screening after RiskScore testing and suggests that clinicians are considering RiskScore results to make recommendations about risk-based screening for their patients."
Study Methodology and Impact
The researchers linked de-identified RiskScore results with insurance claims data to analyze what types of breast cancer screening were performed in the year following genetic testing. They specifically examined recommended screening interventions for high-risk individuals, including mammography in women under 40, breast MRI, and genetic counseling.
The results demonstrated a clear pattern: patients with a 20% or greater lifetime risk of breast cancer (as predicted by either RiskScore or Tyrer-Cuzick) were more likely to undergo enhanced screening protocols. Conversely, patients with less than 20% lifetime risk typically did not receive such intensive screening.
"This real-world, large-scale study represents important progress in understanding how polygenic-based risk scores influence medical management tailored to a patient's individual risk level," said Katie Johansen Taber, PhD, VP Clinical Product Research & Partnerships at Myriad Genetics. "With MyRisk with RiskScore, patients may gain insights into their genetically driven risk of developing breast cancer, and clinicians and patients can work together to make informed, proactive decisions on how to best manage that risk."
Clinical Implications for Breast Cancer Screening
The study's findings have significant implications for breast cancer screening practices. Current guidelines from organizations like the American Cancer Society and the National Comprehensive Cancer Network recommend enhanced surveillance for women at elevated risk, including earlier and more frequent mammography, supplemental imaging with MRI, and consideration of risk-reducing strategies.
By more accurately stratifying patients' risk levels, RiskScore appears to be helping clinicians implement these guidelines more precisely. This approach could potentially improve early detection rates in high-risk women while avoiding unnecessary screening interventions in those at lower risk.
Breast cancer remains the most common cancer diagnosed in women in the United States, with approximately 300,000 new cases expected this year. Early detection significantly improves survival rates, making accurate risk assessment tools increasingly valuable in clinical practice.
About MyRisk with RiskScore
The MyRisk Hereditary Cancer Test with RiskScore evaluates 48 genes associated with hereditary cancer risk to identify genetic changes linked to increased cancer risk across 11 different cancer types. When combined with family history and clinical factors such as breast density, the test provides eligible patients of all ancestries with personalized five-year and lifetime breast cancer risk assessments.
This comprehensive approach to risk assessment represents an evolution beyond traditional models that relied primarily on family history and limited genetic markers. By incorporating a polygenic risk score validated across diverse populations, MyRisk with RiskScore aims to provide more equitable and accurate risk prediction for all patients.
As precision medicine continues to advance, tools like RiskScore demonstrate how genetic insights can be translated into practical clinical applications that potentially improve patient outcomes through more personalized care approaches.
