Ambry Genetics, a wholly owned subsidiary of Tempus AI, Inc. (NASDAQ: TEM), has achieved a significant milestone in hereditary cancer risk assessment with the validation of its CARE Program® (CARE) digital tool. A peer-reviewed study published in the Journal of the National Comprehensive Cancer Network demonstrated that the CARE program accurately interprets NCCN Clinical Practice Guidelines in Oncology with 99.5% accuracy, establishing its effectiveness as a digital risk assessment tool for identifying patients who may benefit from hereditary cancer-focused genetic testing and personalized care.
Clinical Validation and Performance
The study, titled "Validation of a Digital Tool that Uses National Testing Guidelines to Identify Individuals at Risk for Hereditary Cancer," assessed CARE's accuracy by using the program to identify cases that met hereditary cancer testing criteria based on NCCN Guidelines for hereditary breast, ovarian, pancreatic, and prostate cancer, as well as for Lynch syndrome and familial adenomatous polyposis. Researchers compared CARE's results against those of certified genetic counselors reviewing the same cases, confirming its ability to accurately identify 398 out of 400 real-world patient cases.
The validation addresses a critical healthcare gap, as approximately 5% of individuals have a mutation in a cancer predisposition gene, yet most are unaware. NCCN Guidelines are a trusted source for hereditary cancer testing criteria, but their complexity and frequent updates may make them difficult for non-specialist clinicians and digital health tools to apply effectively.
Healthcare System Implementation
Dr. Dax Kurbegov, Vice President and Physician-In-Chief of Clinical Programs at HCA Healthcare's Sarah Cannon Cancer Network, emphasized the practical impact of the validation results. "The validation of CARE's accuracy reinforces what we've experienced at HCA Healthcare's Sarah Cannon Cancer Network – that, in addition to being well received by our patients, CARE's assessment can reliably identify patients who need genetic services," said Dr. Kurbegov. "With demonstrated 99.5% accuracy in applying clinical guidelines, we can confidently scale hereditary cancer risk assessment across our community hospitals, ensuring more patients have access to potentially life-saving genetic insights."
Technology and Integration Features
The Ambry CARE Program leverages digital health solutions to enable health systems to stratify patients by cancer risks, driving personalized, proactive care. The HIPAA-compliant application integrates with electronic health records and collects medical and family history directly from patients via a mobile-friendly assessment prior to in-person visits. The program weighs these data against guidelines to identify those who qualify for hereditary cancer testing and/or increased breast cancer screening based on estimated breast cancer risk.
This integration enables clinicians to make timely, evidence-based medical decisions, while offering patients education and connection to third-party genetic counseling at no additional cost. The comprehensive approach transforms how healthcare systems identify the need for, implement, and scale genetic testing.
Strategic Impact
Tom Schoenherr, CEO of Ambry Genetics, highlighted the broader implications of the validation. "CARE offers healthcare systems a quality, end-to-end solution that transforms how they identify the need for, implement, and scale genetic testing," said Schoenherr. "Because clinicians can trust CARE's comprehensive history collection and accurate risk assessment, they can feel confident expanding access to genetic services, improving outcomes for more patients, and making genetic testing a seamless part of their patient care and population health strategies."
The validation study reinforces CARE's role in addressing the complexity of NCCN Guidelines implementation across healthcare systems, particularly for non-specialist clinicians who may find the frequent updates and detailed criteria challenging to navigate effectively. By streamlining the hereditary cancer risk assessment process, CARE enables broader access to genetic services that could prove life-saving for patients with undiagnosed cancer predisposition mutations.
