MyOme Announces Publication of a Validated Cross-Ancestry Polygenic Risk Score for Breast Cancer

Data demonstrates improved breast cancer risk prediction across multiple ancestries over standard of care

MENLO PARK, Calif., Feb. 22, 2023 /PRNewswire/ -- Myome, Inc., a clinical whole genome platform analysis company and a leader in the development of polygenic risk scores with relevance across multiple ancestries, today announced the publication in JCO Precision Oncology of a validation study for its cross-ancestry, integrated risk score. In the study, data from over 130,000 women demonstrated that MyOme's cross-ancestry, integrated risk score (caIRS) significantly improved breast cancer risk prediction over the common clinical measurement, Tyrer-Cuzick (T-C) alone.

Thousands of women receive low-risk results on standard hereditary cancer genetic panels, even when their personal or family history indicates that they may be at high risk.^1,2 While a polygenic risk score (PRS) is a powerful risk predictor, research on integrated risk models across ancestries has been lacking. To address this issue, MyOme has developed a cross-ancestry, integrated polygenic risk score (caIRS) for breast cancer. The caIRS integrates hundreds of thousands of genetic markers across the genome to support sophisticated disease and ancestral models and combines a cross-ancestry polygenic risk score with a clinical estimator for breast cancer risk (T-C) to provide a more comprehensive risk assessment.

The authors of the study assessed the association between the caIRS and breast cancer risk in two validation cohorts of more than 130,000 women. The results were then compared with 5-year and lifetime breast cancer risk prediction by T-C alone.

Key findings include:

• The caIRS outperformed T-C alone for all populations tested in both validation cohorts and contributed significantly to risk prediction beyond T-C.
• The caIRS correctly identified twice as many high risk Black/African American women when compared to T-C alone.
• The largest improvement in remaining lifetime risk was observed in Hispanic women, where odds ratio (OR) per standard deviation (SD) increased from 1.31 (95% CI, 1.10 to 1.54) to 1.88 (95% CI, 1.62 to 2.19).
• When pooling both validation cohorts, 8.8% and 6.7% of women were classified differently using the cross-ancestry risk score compared with T-C alone for 5-year and remaining lifetime risk, respectively. If guidelines had included the use of caIRS, these women may have qualified for risk-lowering medication and/or enhanced surveillance.

"Improving healthcare equity starts with developing tools inclusive of all ancestries," said Akash Kumar, MD, PhD, chief medical and scientific officer of MyOme and co-author of the study. "Implementing a more comprehensive risk assessment with MyOme's integrated cross-ancestry integrated risk score may enable personalized screening and risk reduction strategies for women who are at high risk for developing breast cancer, regardless of ancestry, and who may have been missed otherwise."

Breast cancer is the most common cancer among women and a leading cause of cancer mortality. The American Cancer Society estimates that there will be 297,790 new cases of breast cancer diagnosed in the U.S. and around 43,700 deaths in 2023. Genetic screening plays a vital role in early identification of at-risk patients, which can help enable proactive steps to reduce risk or detect cancer at an early stage.

"The talented team at MyOme has addressed important limitations with first generation polygenic risk models," said Ramesh Hariharan, general manager for women's health at Natera. Two of the publication's authors have Natera affiliations. "This study supports the advantages of MyOme's approach, which leverages genome-wide markers and incorporates genetic ancestry classification."

About MyOme 

MyOme is a clinical whole genome analysis platform company helping families understand their risk for inherited diseases. As a leader in polygenic modeling, MyOme leverages the power of the whole genome for a lifetime of actionable insights. Certified under the Clinical Laboratory Improvement Amendments (CLIA), MyOme is based in Menlo Park, California. For more information, please visit myome.com.

References:

1. Mavaddat N, Antoniou AC, Easton DF, et al: Genetic susceptibility to breast cancer. Mol Oncol 4:174-191, 2010
2. Breast Cancer Association Consortium, Dorling L, Carvalho S, et al: Breast cancer risk genes - association analysis in more than 113,000 women. N Engl J Med 384:428-439, 2021

SOURCE MyOme, Inc