Genetic testing and counseling help guide a Northern Virginia wife and mother’s decisions about her breast cancer treatment
When Nicole Sharabi, 42, tested positive last year for stage 3, triple-negative breast cancer, she was ready to take action. But before beginning any medical treatment, Nicole underwent genetic testing. “I wanted as much information as I could get,” she recalls.
Ultimately, Nicole underwent six months of chemotherapy to shrink the cancer and destroy breast cancer cells that escaped into her body; she then had a bilateral mastectomy. Because her post-surgery pathology report revealed that a small percentage of the cancer remained, Nicole ended her treatment with radiation therapy. She is now considering trials for treatment (see “Exploring Clinical Trials and Personalized Cancer Treatment” below).
Genetic testing informed her cancer treatment
It turned out that the genetic testing was a critical component of the treatment process. Nicole’s comprehensive multigene panel test and pre- and post-test counseling with Kimberly Matthijssen, MS, licensed and board-certified genetic counselor at Inova Fair Oaks Hospital, brought to light some interesting information. While Nicole tested negative for gene mutations commonly linked to breast cancer, including the BRCA1 and BRCA2 genes, the test did identify a BRIP1 gene mutation. This mutation increases the risk of ovarian cancer, although it remains unclear as to whether or not it affects breast cancer risk.
Genetic testing can provide insights for future cancer risks
Why consider a genetic test after diagnosis? According to Kirsten Edmiston, MD, who was Nicole’s breast cancer surgeon: “Genetic testing helps us think about a patient today and for the rest of their life — because a gene mutation not only shows a predisposition for developing cancer, but it also suggests the patient’s risk for subsequent cancer.” Dr. Edmiston explains that although there were no genetic clues as to what caused Nicole’s cancer, “the overall results helped us see a reduced risk of the breast cancer returning. That information impacted surgical recommendations.”
Nicole’s oncologist, Kathleen K. Harnden, MD, Inova Medical Group, focuses on systemic treatments — treatments taken by mouth or infusion — that can best achieve a cure.
“At the same time, I’m always focused on the patient’s future, which is where genetic testing comes in,” she says. “This is how we learn about risk factors.”
The patient’s voice matters when choosing cancer treatments
While genetic testing provides clues, Dr. Edmiston is quick to add that no test offers definitive answers. Instead, genetic tests help point to various options. The testing adds an additional layer of understanding for patients who make their own medical decisions.
“When Kim and I studied my genetic test results, a double mastectomy was an option but not my only choice,” Nicole says. “I opted for a double mastectomy because it was the best decision for me. I didn’t want to worry about the breast cancer returning.”
As for the BRIP1 gene mutation that testing identified, Nicole plans to eventually remove her ovaries and reduce her risk for ovarian cancer.
“Nicole made the decision that felt best to her given what we learned,” Matthijssen says. “Our goal is to provide the most comprehensive genetic information possible and help patients understand their individual results. It’s then the patient’s role to use that information, along with their oncology team’s recommendations, and make choices that may help to reduce their cancer risks — as well as bring peace of mind.”
Exploring Clinical Trials and Personalized Cancer Treatment
Because cancer was still present in Nicole Sharabi after treatment, she will be working with the Inova Molecular Tumor Board to find solutions to eradicate it. The Tumor Board matches patients dealing with rare or recurring advanced cancers with personalized treatments for their specific cancers. Due to Nicole’s cancer type, the lingering cancer puts her at risk of recurrence. She could be eligible for a clinical trial involving immunotherapy or one evaluating a new vaccine that would specifically attack her breast cancer.
Nicole has met personally with the team of physicians, geneticists and other clinicians that make up the board and is considering several clinical trials. Patient participation in the treatment decision-making process is key to Inova Molecular Tumor Board’s goal of patient-focused care — and it’s a philosophy that sets Inova’s board apart from other tumor boards.
Prices getting lower for genetic testing
Not long ago, genetic tests were an expensive procedure. Recent improvements in genetic testing technology have streamlined the process, and today there are also more labs qualified to perform genetic tests. “From recent advancements, the cost for genetic testing has gone from around $4,000 to as low as $250,” says genetic counselor Kimberly Matthijssen, MS. “This price drop is so important, especially when we feel a patient is a candidate for genetic testing, but doesn’t meet their insurance criteria and may be responsible for out-of-pocket cost.”
Now, Matthijssen stresses, patients concerned about their risk of cancer, perhaps because of family history, can take steps to alleviate anxieties. “We have affordable options — so if a test is warranted, we don’t have to turn away patients,” she says.
Expert, compassionate breast care in Northern Virginia
Learn more about Inova’s approach to breast cancer care at inova.org/breastcancer.