Ambry Genetics' CARE Program Validated as Accurate Tool for Hereditary Cancer Risk Assessment

Strategic Insights -

A newly published peer-reviewed study in the Journal of the National Comprehensive Cancer Network (NCCN) validates the Ambry CARE Program's utility as a digital risk assessment tool with 99.5% accuracy in identifying individuals at risk for hereditary cancer. The study assessed the program's ability to accurately interpret NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for breast, ovarian, pancreatic, and prostate cancer, as well as Lynch syndrome and familial adenomatous polyposis. The Ambry CARE Program leverages digital health solutions to enable health systems to stratify patients by cancer risks, driving personalized, proactive care.

Key Takeaways:

  • The Ambry CARE Program is a digital risk assessment tool validated with real-world patient data, demonstrating 99.5% accuracy in interpreting NCCN Clinical Practice Guidelines.
  • The program leverages electronic health records and collects medical and family history from patients via a mobile-friendly assessment to identify those who qualify for hereditary cancer testing.
  • The program enables clinicians to make timely, evidenced-based medical decisions, while offering patients education and connection to third-party genetic counseling at no additional cost.
  • The Ambry CARE Program address the complexity and frequent updates of NCCN Guidelines, making them difficult for non-specialist clinicians and digital health tools to apply effectively.
  • Approximately 5% of individuals have a mutation in a cancer predisposition gene, yet most are unaware.
  • The Ambry CARE Program is a quality, end-to-end solution that transforms how healthcare systems identify and implement genetic testing, improving outcomes for more patients.

Statistics:

  • 99.5% accuracy in interpreting NCCN Clinical Practice Guidelines for hereditary cancer risk assessment.
  • 398 out of 400 real-world patient cases accurately identified by the Ambry CARE Program.
  • Approximately 5% of individuals have a mutation in a cancer predisposition gene.
  • NCCN Guidelines are a trusted source for hereditary cancer testing criteria, with 2.2025 and 3.2024 versions validated by the study.

Sources:

  • "Validation of a Digital Tool that Uses National Testing Guidelines to Identify Individuals at Risk for Hereditary Cancer." Journal of the National Comprehensive Cancer Network.
  • Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW. Cascade genetic testing of relatives for hereditary cancer risk: results of an online initiative. J Natl Cancer Inst. 2019;111(1):95-98. doi:10.1093/jnci/djy147
  • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate. V2.2025.
  • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric. V3.2024.