Genetics in Medicine Publishes Myriad Genetics Patient-Outcomes Study Validating RiskScore® as a Clinical Breast Cancer Risk Assessment Tool
SALT LAKE CITY, June 03, 2024 (GLOBE NEWSWIRE) -- , (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced that Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics (ACMG), validating RiskScore®, Myriad’s breast cancer risk assessment tool integrated into its MyRisk® Hereditary Cancer Test. RiskScore combines a polygenic risk score (PRS) validated for all ancestries with the Tyrer-Cuzick model, a widely used breast cancer risk assessment calculator.
The study – first shared as a at the 2022 San Antonio Breast Cancer Symposium – examined real-world patient outcomes from more than 130,000 women who have taken Myriad’s MyRisk Hereditary Cancer Test with RiskScore. The study demonstrated that RiskScore was more accurate at stratifying women at high- or low-risk of developing breast cancer than the Tyrer-Cuzick risk calculator alone. In fact, the integration of RiskScore with Tyrer-Cuzick improved predictive accuracy by roughly two-fold over Tyrer-Cuzick alone.
“This study makes substantial progress in validating the performance of a PRS to assess breast cancer risk among women of diverse ancestries,” said Allison Kurian, M.D., professor of medicine and of epidemiology and population health, Stanford University School of Medicine. “Key findings include the superior calibration and discrimination of the PRS, out-performing standard breast cancer risk models, in a large, real-world medical claims dataset. These results are an important next step in defining the role of PRS in clinical practice.”
Guidelines recommend that women at increased risk of breast cancer undergo additional surveillance measures, such as an annual breast MRI. In clinical practice, approximately 1 in 5 women are reclassified by RiskScore compared to their risk classification by Tyrer-Cuzick.1 The clinical use of RiskScore may therefore lead to more accurate identification of women who may benefit from enhanced breast cancer surveillance strategies.
“Comprehensive and equitable personalized breast cancer risk assessment integrates known traditional risk factors, germline-mutation testing, and an all-ancestry PRS. The recently published results from a large, real-world cohort demonstrate the value of this combination, particularly its ability to better elucidate risk for the large majority of women who do not have a pathogenic germline mutation,” said Dale Muzzey, chief scientific officer, Myriad Genetics. “Incorporation of a PRS for all ancestries into a precision medicine tool like MyRisk with RiskScore means more women may be able to benefit from getting finer quantitative resolution of their genetically driven risk of developing breast cancer, and they can then work with their physicians on how to best manage that risk.
About the Study
This included women tested with MyRisk between 2017-2019 who did not carry a pathogenic variant known to be associated with breast cancer risk (e.g., a variant in BRCA1 or BRCA2), and without a prior diagnosis of breast cancer. Clinical information, such as a woman’s family history of cancer, was obtained from test request forms submitted by providers. Patient outcomes after testing were obtained by tokenizing and linking medical claims to clinical and genetic testing data from Myriad to create a deidentified dataset. Patients’ remaining lifetime risk of developing breast cancer was calculated using Tyrer-Cuzick and RiskScore.
About Myriad Genetics
Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and offers genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit .
Safe Harbor Statement
This press release contains “forward-looking statements” within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to how the incorporation of a PRS for all ancestries into a precision medicine tool like MyRisk with RiskScore may lead to more women being able to benefit from getting finer quantitative resolution of their genetically driven risk of developing breast cancer. These “forward-looking statements” are management’s expectations of future events as of the date hereof and are subject to known and unknown risks and uncertainties that could cause actual results, conditions, and events to differ materially and adversely from those anticipated. Such factors include those risks described in the company’s filings with the U.S. Securities and Exchange Commission, including the company’s Annual Report on Form 10-K filed on February 28, 2024, as well as any updates to those risk factors filed from time to time in the company’s Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. Myriad is not under any obligation, and it expressly disclaims any obligation, to update or alter any forward-looking statements, whether as a result of new information, future events or otherwise except as required by law.
- Hughes, Elisha, et al. "Integrating clinical and polygenic factors to predict breast cancer risk in women undergoing genetic testing." JCO Precision Oncology 5 (2021): 307-316.
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