Many patients are anxious about their family history—more than providers realize. In some cases, they may feel like a ticking time bomb with no options. In Part One of this blog series, I talked about The Ambry CARE ProgramTM and how Lake Health has been able to use it to identify more high-risk patients, increase family history and cancer risk screening, and offer genetic testing and genetic counseling, as well as better preventative measures for our patients. Patient response has been tremendous, and the feedback is that they feel incredibly grateful that we are offering them options and being proactive and personalized about their risks.
The best way to illustrate the impact of CARE is with three patient cases.
Patient 1 has been a patient since she turned 18. She subsequently had four daughters with our practice. She had been seen in our practice through her adult life but never reported a suspicious family history for cancer. Years later, when she filled out the CARE family history assessment, she remembered that her paternal grandmother had cancer. She asked some questions of family members—something the CARE platform gives patients the time to do before an appointment, rather than trying to remember everything in the waiting room beforehand. Her memory was verified that, yes, her paternal grandmother had ovarian cancer. Before having the option to complete a digital family history assessment outside of a busy appointment, a possible hereditary risk of cancer wasn’t even on her radar. She met guidelines for hereditary cancer testing, and after testing with CancerNext® she received positive result for a BRCA1 mutation. If I had known this information sooner, I would have offered testing previous to this time period.
Her perspective was that she was young and healthy, but she wanted to know for the sake of her daughters. It was surprising to find a genetic mutation, but the clinical impact was being able to offer much more proactive treatment.
• The patient herself is eligible for a mammogram yearly, alternating every six months with a breast MRI. She can also choose to proceed with a risk-reducing mastectomy if/when the time is right.
• For this patient, I also recommend she consider a risk-reducing sapingo-oophorectomy at the age of 40-45, or when done having children, to reduce the risk of ovarian cancer.
The family impact doesn’t just affect the daughters—who can choose to undergo testing when they’re old enough. This patient had two sisters in the practice as well. First-degree relatives have a 50:50 chance of sharing the mutation and can undergo cascade genetic testing. They chose to do so. The second sister had a surgery scheduled; if she were a carrier, the surgery would have been dramatically different.
My second patient example is a 56-year-old woman we had seen for several years as an adult. She was aware of colon cancer in her family, but never thought to mention it during her OB-GYN appointments. When she filled out the CARE family history assessment, she reported her family history of colon cancer. She had a gastroenterologist and was having a colonoscopy every 3-5 years, as recommended for women her age with her family history. However, after meeting the criteria for genetic testing, CancerNext revealed a Lynch syndrome diagnosis. I contacted her gastroenterologist to discuss the results—patients with a PMS2 mutation should have routine colonoscopies every 1-3 years—and we evaluated her risk of uterine cancer, as well. One of her options was a risk-reducing hysterectomy, and family members were offered cascade testing as well.
Most patients don’t meet the guidelines for testing, or they test negative, so these are concrete examples of times that the patient was able to take additional preventative measures.
Ambry’s cancer screening report very clearly summarizes whether the guidelines are met for a patient to undergo hereditary cancer screening as well as their breast cancer risk. When genetic test results come back, they are clear and contain up-to-date guidelines for the provider, as well as copies of genetic counseling by third-party genetic counselors.
In a third example, a 51-year-old did not meet the criteria for testing, but her breast cancer risk score was still over 20%. This allowed us to offer personalized counseling and high-risk management, including breast MRI. And this is not a rare case—more than 2,000 women have qualified for increased breast cancer screening at Lake Health since we began assessing breast cancer risk via CARE.
CARE has offered our practice a better opportunity to assess and help patients respond to their risk for cancer. The ability to stratify patients according to risk and then focus on those who may have a significant risk enables proactive care and personalized recommendations.
