We talk about the Ambry CARE Program^® (CARE) a lot – how it helps providers identify high-risk patients, offers genetic testing and genetic counseling at scale, and gives patients insights to help them better manage their health. All of that is very powerful, but people also often ask what CARE looks like from the patient’s perspective. 

Patricia Arribas is a 51-year-old patient from Asheville, North Carolina, who recently sat down with us to share her personal experience with CARE. Originally from Miami, she has two grown children and a busy and full life. She also has a family history of cancer on both sides of her family, including pancreatic cancer, colon cancer, and ovarian cancer. When her father passed away from pancreatic cancer at the age of 60, she had a conversation with her healthcare provider. He mentioned that pancreatic cancer can have a genetic component and told her, “We’ll just wait and see,” but did not offer any testing or screening options.   

Several years later, Patricia was offered participation in the CARE program in conjunction with her annual mammogram. She filled out the risk assessment prior to her appointment and was identified as a candidate for genetic testing based on her reported family history. At the appointment, she was given information on how the process would work, what insurance would cover, and next steps if the test came back positive for any pathogenic variants, also known as mutations, which are associated with a predisposition to cancer. “The whole process was very smooth,” she explains. “My experience in the diagnostic center was very comfortable. The nurse was wonderful and knowledgeable.” 

Patricia’s genetic test results revealed that she is BRCA2 positive, which means she has a pathogenic variant in the BRCA2 gene that causes her to be at an increased of risk of developing certain cancers, like breast cancer, ovarian cancer, melanoma, pancreatic cancer and others.  

Her response to the BRCA2 positive result has changed since the time she first received them. “Immediately I was not happy. It came with...a sense of sadness and fear, but after that it became a sense of empowerment that I will do as much as I can to be as cancer free for as long as possible,” Patricia says.  

She shared the results with both sides of her family. At first, they were also concerned about what being BRCA2 positive would mean for Patricia’s health, but they were reassured that while not having a hereditary mutation is a good thing, knowing you have one so you can be prepared and take proactive steps is also a good thing. This is why her children are planning to pursue their own genetic testing. “We’re taking better care of our health and being more proactive,” she explains.  

Now that she knows she is at increased risk for these specific types of cancer, Patricia has many options to reduce her risk and for screening in hopes of detecting cancer sooner, if it were to develop. Patricia chose to have a hysterectomy and removal of her ovaries and fallopian tubes. She is scheduled for a double mastectomy and will receive certain cancer screening imaging more frequently. These choices give her peace of mind that she’s doing everything she can for her health.  

What is Patricia’s advice for anyone who wonders if genetic testing might be right for them or for their practice?  “Don’t hesitate. It’s a blessing to have tests like this available. No one ever wants to have cancer, but it’s worse to look back and know you could have taken steps to prevent it or detect it sooner. The awareness the CARE program brings increases the likelihood of one more person out there being cancer free—and that person could be their mother, sister, father, or friend.”