A new peer-reviewed study published in the Journal of the National Comprehensive Cancer Network has validated the accuracy of Ambry CARE Program to identify individuals at risk of hereditary cancer.
The study, titled “Validation of a Digital Tool that Uses National Testing Guidelines to Identify Individuals at Risk for Hereditary Cancer” found that the CARE platform matched clinical guidelines with 99.5% accuracy. Researchers compared the tool’s risk assessments against evaluations made by certified genetic counselors across 400 real-world cases. In 398 of those cases, the tool correctly identified whether the patients met testing criteria based on the National Comprehensive Cancer Network (NCCN) guidelines.
Hereditary mutations are known to contribute to approximately 5% of all cancers. However, identifying individuals who might benefit from genetic testing can be challenging. The NCCN guidelines offer a framework for doing so, but their complexity and frequent updates can limit their practical use by general practitioners and healthcare systems.
CARE attempts to address this issue by using a digital interface that integrates with electronic health records, gathering patient medical and family history through a mobile-friendly platform. It then applies the NCCN guidelines to stratify patients by hereditary cancer risk. According to the study, this process can help ensure that more patients who meet testing criteria are appropriately identified for follow-up care.
Dr. Dax Kurbegov, Vice President and Physician-in-Chief of Clinical Programs at HCA Healthcare’s Sarah Cannon Cancer Network, noted that the tool has been effective in identifying patients in need of genetic services across their hospitals.
The tool also provides patients with educational resources and access to third-party genetic counseling services, which may support broader adoption in healthcare settings with limited in-house genetics expertise.
Researchers assessed CARE’s performance in identifying patients who met hereditary testing guidelines for a range of conditions, including breast, ovarian, pancreatic, and prostate cancers, as well as Lynch syndrome and familial adenomatous polyposis.