Using Genomics and AI to Improve Breast Cancer Risk Assessment and Early Detection

AdventHealth recently began piloting a new Genomics Risk Assessment for Cancer and Early Detection (GRACE) program that combines the use of digital mammography, artificial intelligence (AI) technology and embedded algorithms to assess a patient’s potential risk of developing breast cancer. The first program of its kind in Florida, GRACE also provides those identified as high-risk with a nurse navigator to help guide them through a clinical pathway that could include additional imaging or genetic testing.

“While it is critical that we identify those at high risk of developing breast cancer to enhance early detection and reduce mortality, this risk has historically been determined through a one-size-fits-all approach,” shares Wes Walker, MD, AdventHealth’s director of genomics and personalized health. “With the new GRACE program, we are providing patients a more comprehensive, accurate, individualized risk assessment based on their age, personal history, family history, hormonal history, reproductive history, breast density and genomics.”

Harnessing the Power of AI Technology

Launched August 1 with mammography patients at AdventHealth’s hospital-based imaging center in Winter Park and at its outpatient imaging center in Waterford Lakes, the GRACE program uses AI in two ways:

• To enhance image analysis and assist radiologists in determining correct breast density.
• To provide a risk assessment model/algorithm that uses the patient’s data, including family and medical history, along with their breast density to calculate lifetime breast cancer risk.

“This new technology overlays AI data from thousands of anonymous patient records to assess a patient’s potential risk of developing breast cancer, and every image analyzed improves the algorithms for early detection,” explains Dr. Walker. “We’ve already learned that roughly 20% of women who come in to get a mammogram are at high risk.”

The GRACE program incorporates Volpara Health’s Cancer Risk Assessment, an evidence-based platform with risk models embedded for breast cancer as well as licensed National Comprehensive Cancer Network (NCCN) guideline and Tyrer-Cuzick risk model content. The Tyrer-Cuzick model, also known as the International Breast Intervention Study (IBIS) risk prediction model or IBIS tool, provides a risk score that estimates the likelihood of a woman developing breast cancer over the course of her lifetime. It also measures a person's probability of BRCA1 or BRCA2 mutations.

“Tyrer-Cuzick lifetime risk is considered the gold standard and having a score of 20% or above allows patients the ability to receive breast MRIs/ultrasounds through their insurance policies,” explains Rebecca Essner, MS, PhD, AdventHealth’s director of strategic programs, genomics and personalized health. “Additionally, incorporating the NCCN guidelines ensures patients can use their insurance for subsequent genetic testing if they are determined to be at high risk.”

Providing Personal Care Navigation and Support

Patients identified as high-risk through the GRACE program are referred to a dedicated nurse navigator who can guide them along a high-risk clinical pathway based on their individual risk score. This can include additional imaging, like breast MRI/ultrasound, as well as genetic testing.

“The nurse navigator is a unique strength of this program and absolutely invaluable in providing support, information and guidance. Sometimes learning that you are high-risk can be very stress inducing, so that high-touch, human element has been incredibly important,” says Dr. Walker.

The nurse navigator also documents each patient’s care plan in the electronic medical record (EMR) and keeps the referring physician informed.

Identifying High-risk Patients Who Could Benefit from Genetic Testing

Dr. Essner shares that those with BRCA1 or BRCA2 mutations have historically been under-recognized or under-diagnosed due to a variety of reasons. Breast cancer gene panels also now cover many other genes in addition to BRCA1 and BRCA2.

“With both the advancements in risk stratification through risk assessment algorithms like those in our GRACE program as well as in genetic testing panels and integration with our electronic medical records, AdventHealth is well poised to bridge this care gap,” comments Dr. Essner.

Future Expansion of the GRACE Program

While the GRACE program is currently in the pilot project phase at only two imaging centers, AdventHealth plans to scale the program to all 16 of its hospital-based and outpatient Central Florida radiology centers in 2025. The goal is to provide risk assessment information and risk score calculations for approximately 100,000 mammography patients per year once the program is fully implemented.

“This program is a true advancement in medical care for all,” says Dr. Walker. “It provides additional data to our teams to catch breast cancer early or even potentially prevent it in certain situations.”