Enhancing Patient Care: A Digital Approach via The Ambry CARE Program® Improves Universal Cancer Risk Stratification in Imaging Centers

Identifying individuals at increased cancer risk is crucial for prevention and early cancer diagnosis. Integrating a risk assessment tool into imaging centers supports proactive cancer risk management by combining risk evaluation with immediate diagnostic capabilities. A retrospective study was conducted across 15 Midstate Radiology Associates (MRA) Imaging Centers from 2018 to 2024 to assess the transition of a paper screening cancer risk assessment tool to a universally accessible tool on a digital platform.

Paper family history forms were used in 13 MRA centers from 2018 to 2021. These forms were given to screen all mammography patients for eligibility for hereditary cancer genetic testing, with Tyrer-Cuzick (TC) breast cancer risk scores included for those genetically tested. From 2021 onward, 12 MRA centers used the electronic Ambry CARE Program^® (CARE) to screen patients before mammogram appointments to assess lifetime breast cancer risk using the Tyrer-Cuzick (version 8.0) algorithm, and to determine eligibility for genetic testing based on national guidelines for hereditary cancer predisposition (hereditary breast, ovarian, pancreatic, prostate cancers; Lynch syndrome; and familial adenomatous polyposis [FAP]).

Figure 1: Paper Screening Process

Figure 2: Electronic-Based Screening Process

Outcomes between paper screening and the CARE digital tool were compared, including risk assessment completion, genetic testing criteria met, pursuit of germline testing, positive germline results, and Tyrer-Cuzick scores ≥20%.

Table 1: Comparison of Patient Genetic Testing Journey: Paper vs. Digital Screening

During the years paper screening forms were used, there were 168,323 mammogram appointments. Of those 24.6% (41,424) met criteria for genetic testing based on paper documentation. Among the 12.4% (5,133) who opted for testing, 6% (332) had positive results and 22% (1,133) had a ≥20% lifetime breast cancer risk.

Looking into the years a digital screening tool was utilized, 84,122 individuals were invited to complete an assessment, 75.8% (63,749) responded, with 98% (60,438) being females aged 18 or older. At the time of assessment, 26.3% (16,81a9) met the criteria for genetic testing, and 20.7% (3,489) of these opted for germline genetic testing. Additionally, 1,431 individuals who did not meet criteria chose to undergo testing. Among the 4,920 completed genetic tests, 9.6% (470) had positive results, with 46.8% (220/470) influencing breast cancer risk management options. Furthermore, 10.6% (5,984/56,245) of those females without personal history of cancer assessed using the Tyrer-Cuzick algorithm were identified as having a ≥20% lifetime risk of breast cancer, warranting modified medical management.

Table 2: Digital Screening Increased Opportunities to Identify Patients at Elevated Breast or Hereditary Cancer Risk

Poor documentation during the period when paper screening forms were used was observed. This suggests a possibility that the paper form was not distributed to all patients or was not adequately filled out by all patients. This resulted in inconsistent hereditary risk assessment in patients. Also, breast risk screening via TC score was only performed for those patients who underwent genetic testing.

Outcomes indicated that the digital tool increased hereditary cancer genetic testing uptake and expanded access to lifetime breast cancer risk assessment. These improvements may have been due in part to the assessment being electronically sent to patients prior to their screening mammogram, as well as the accessibility of the CARE assessment to be easily answered on a cell phone or iPad. While the factors that influenced patient decision-making about genetic testing were not directly assessed, the increase in patients electing to proceed with genetic testing when they met genetic testing criteria may have been supported by the patient education provided through CARE. Last, the improved breast risk screening is also due to the CARE assessment calculating a lifetime breast cancer risk score via TC algorithm for every patient, not just a TC score being calculated on individuals undergoing genetic testing (as was the protocol for the paper forms).

This study highlights the benefits of universally implementing a digital risk stratification tool in imaging centers, to include breast cancer risk scores for all patients versus only those who qualify for hereditary cancer testing. The digital tool supports efficient identification of patients eligible for genetic testing for hereditary cancer syndrome and/or modified medical management of increased breast cancer risk, thereby offering the opportunity for enhancing prevention and early treatment. Since the implementation of CARE, MRA achieved a 400% increase in identifying patients who would benefit from breast MRI and a 60% boost in patients pursuing genetic testing. This has impacted over 6,000 lives and shows the power of passionate healthcare teams paired with innovative digital solutions like CARE.