Multiple guidelines recommend ongoing breast cancer risk assessment for women, beginning by age 25, to identify individuals at increased risk who may need enhanced breast cancer screening.1,2. A risk-based approach to breast cancer screening has been shown to be both acceptable and preferred.3. Further, digital cancer risk assessment tools, such as Ambry Genetics’ validated CARE platform,4, have made breast cancer risk assessment more accessible than ever. Here, we share three important insights from our 5+ years of experience implementing digital cancer risk assessment at breast imaging centers across the U.S.
Insight #1: A comprehensive assessment that includes breast cancer risk modeling and evaluation of genetic testing criteria maximizes the identification of high-risk patients.
Women with a lifetime breast cancer risk exceeding 20% are typically recommended to undergo breast MRI in addition to mammogram and begin screening at a younger age.1,2. Breast cancer risk models (e.g., Tyrer-Cuzick) and hereditary cancer testing are guideline-based approaches for identifying women who fall into this increased risk group. Approximately one in ten women assessed through CARE are at elevated risk for breast cancer based on their Tyrer-Cuzick score and/or germline test results. Importantly, a subset of women with Tyrer-Cuzick scores below 20% are still at increased risk because of a germline pathogenic variant in a cancer predisposition gene.
Insight #2: Hereditary cancer risk assessment at the time of breast imaging closes gaps in breast survivorship care.
Many breast cancer survivors meet the national genetic testing guidelines for breast cancer susceptibility,5, yet testing remains underutilized. In some cases, patients are offered testing and make an informed decision to decline or wait for various reasons. In others, patients slip through the cracks and are never given the option. Follow-up breast imaging appointments present an opportunity to identify breast cancer survivors at increased risk for developing cancer.
Thousands of breast cancer survivors have completed genetic testing through the CARE program and ~10% are found to have a pathogenic variant in a cancer predisposition gene. These findings often have significant implications for early detection and prevention of additional cancer diagnoses. For example, if a breast cancer survivor is found to have a pathogenic variant in the BRCA1/2 genes, they should be offered the option of bilateral mastectomy (with continued high-risk breast cancer screening if they decline) and recommended to undergo prophylactic removal of the ovaries.5,6
Insight #3: One risk assessment is not enough.
A one-time assessment is merely a snapshot. Risk evolves. Medical guidelines update, family histories change, and a patient’s personal readiness to undergo genetic testing shifts over time.
Hundreds of thousands of patients have completed CARE assessments at multiple time points. We have seen first-hand how ongoing risk assessment has impacted these women through
changes in their Tyrer-Cuzick score over time, eventual readiness for genetic testing, or becoming eligible for testing due to changes in personal or family history.
Make Every Imaging Appointment Count
Every breast imaging appointment is an opportunity to comprehensively assess breast cancer risk and identify women who need more than an annual mammogram. Our experience implementing CARE has shown how annual risk assessment identifies those who could benefit from enhanced screening, who are at risk for hereditary cancer, while also providing a regular touchpoint to reassess risk and guide the patient through testing when they are ready.
Transform your screening approach. Learn how imaging centers and health systems nationwide use the CARE platform to systematically identify high-risk patients at:ambrygen.com/partners/care
References
- Monticciolo DL, Newell MS, Moy L, Lee CS, Destounis SV. Breast Cancer Screening for Women at Higher-Than-Average Risk: Updated Recommendations From the ACR. J Am Coll Radiol. 2023;20(9):902-914. doi:10.1016/j.jacr.2023.04.002
- Esserman LJ, Fiscalini AS, Naeim A, et al. Risk-Based vs Annual Breast Cancer Screening: The WISDOM Randomized Clinical Trial. JAMA. 2026;335(9):763-774. doi:10.1001/jama.2025.24784
- Fecteau H, Pfleger H, Nathan D, et al. Validation of a Digital Tool That Uses National Testing Guidelines to Identify Individuals at Risk for Hereditary Cancer. J Natl Compr Canc Netw. 2025;23(8):e257025. Published 2025 Jun 25. doi:10.6004/jnccn.2025.7025
- Bedrosian I, Somerfield MR, Achatz MI, et al. Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline. J Clin Oncol. 2024;42(5):584-604. doi:10.1200/JCO.23.02225
- Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. Obstet Gynecol. 2017[reaffirmed in 2024];130(3):e110-e126. doi:10.1097/AOG.0000000000002296
- Tung NM, Boughey JC, Pierce LJ, et al. Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline. J Clin Oncol. 2020;38(18):2080-2106. doi:10.1200/JCO.20.00299
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