Myriad Genetics' RiskScore study, which enhances the MyRisk Hereditary Cancer Test, has been recognized by the American Journal of Human Genetics as one of the top 10 significant advances in genomic medicine. This distinction, awarded by the Genomic Medicine Working Group at the National Human Genome Research Institute, highlights the clinical significance and predictive accuracy of RiskScore in breast cancer risk assessment.
The study, led by Mabey et al., validated MyRisk with RiskScore using data from over 130,000 women referred for hereditary cancer genetic testing. The findings demonstrate that RiskScore, which integrates a polygenic risk score (PRS) for all ancestries with the widely used Tyrer-Cuzick model, is a more accurate predictor of breast cancer risk than the Tyrer-Cuzick model alone.
Enhanced Breast Cancer Risk Prediction
RiskScore delivered two times the ability to predict breast cancer risk compared to the Tyrer-Cuzick model. This improvement is attributed to the inclusion of a multi-ancestry PRS, which allows for more precise risk assessment across diverse populations. Myriad Genetics was among the first commercial laboratories to offer a multi-ancestry breast cancer PRS, reflecting its dedication to advancing health equity and delivering more inclusive genetic insights.
Expert Commentary
"We are honored by this recognition, which underscores the clinical significance of the validation research from the study and predictive accuracy of RiskScore," said Dale Muzzey, PhD, Chief Scientific Officer at Myriad Genetics. "MyRisk with RiskScore can assist both clinicians and patients in making informed, proactive medical management decisions to help prevent breast cancer or detect it early. The accuracy of RiskScore across all ancestries emphasizes Myriad’s commitment and contribution to health equity."
Muzzey added, "We hope that the selection of our paper as a major advance will continue to drive the adoption of RiskScore by providers and guideline societies."
About MyRisk Hereditary Cancer Test with RiskScore
The MyRisk Hereditary Cancer Test with RiskScore evaluates 48 genes associated with hereditary cancer risk, identifying genetic changes that increase the risk for 11 different cancers. When combined with family history and other clinical factors, such as breast density, MyRisk with RiskScore provides eligible patients with a five-year and remaining lifetime breast cancer risk assessment individualized to them.