At 7 months pregnant, Wendy McAuley, 33, is anticipating the arrival of her first child. The newlywed and her husband, Eamond, sped up the pace of their family planning when they learned she was at risk for developing breast cancer.
In 2012, she tested positive for the BRCA2 gene — one of the two gene mutations that increases risk for breast cancer by 45 percent and ovarian cancer by 11 percent. Several doctors’ appointments followed as well as a visit to a genetic counselor and regular mammograms.
“We just keep a watchful eye,” Mrs. McAuley said. “Eventually I will have a double mastectomy and reconstruction. Me and my husband are both on board with that.”
She was 32 at the time and without children. Her doctor suggested she get pregnant before surgical intervention. Three months after her wedding, she did.
“We had talked about getting pregnant within a year or two simply because of my age,” Mrs. McAuley said. “She just kind of encouraged it along.”
Alarm bells went off after her doctor learned of her family’s cancer history. A great uncle died from breast cancer, and another uncle was diagnosed but beat it. Her doctor was adamant that she get a genetic test.
“Apparently that was significant to have two men have breast cancer in the family on one side,” Mrs. McAuley said.
Before, she didn’t know anything about gene mutations.
“At that time, it wasn’t significant or important to me because I honestly just figured it didn’t have anything to do with me,” she said. “I didn’t figure I had it.”
Six people in Mrs. McAuley’s family have had the genetic test, and so far, three have tested positive.
A cousin, Carrie Brantley, 36, took the test, but it was negative. When her relatives tested positive for the BRCA gene, she knew she needed to get tested.
“Until that happened, I didn’t even know that men could get breast cancer,” she said.
Mrs. Brantley also will consider another genetic test that identifies markers for other cancers, as her mother has been diagnosed with thyroid cancer and her aunt was diagnosed with pancreatic cancer.
In addition, her father’s side of the family has a history of colon cancer.
The mother of two young children, she didn’t think she’d be dealing with these issues in her 30s.
“I guess I think of cancer as something you start thinking about in your 40s and 50s,” Mrs. Brantley said. “I didn’t think I’d have to start having mammograms as soon as I did.”
In addition to mammograms, she must get MRIs for a more thorough examination of dense breast tissue.
Doctors and patients said, with the publicity that followed actress Angelina Jolie’s announcement last year that she’d received a double mastectomy because she had a BRCA gene, a national conversation began.
“I’m not her biggest fan, but I was very proud of her for coming out,” Mrs. McAuley said. “I was very proud of her trying to make people aware of this situation and becoming educated on genetic mutation.”
Finding cancer risks by examining genes is still relatively new and doctors expect more discoveries in the fight against cancer.
“There will be many more genes coming up in the future,” said Dr. Svetislava Vukelja, an oncologist at Texas Oncology-Tyler. “Ten years ago, we weren’t testing for this.”
THERE ARE OPTIONS
When a patient learns they have a BRCA mutation, they have a few options. They can wait and watch. This may mean regular mammograms and MRIs. Tamoxifen, the medication given to cancer patients after treatment, may be prescribed. However, it provides only a 56 percent reduction in cancer risk. Patients also may choose surgical intervention, which doctors said gives patients a 96 percent reduction in breast cancer risk.
Men who are at risk also should be tested because they could develop prostate or head and neck cancers if they have one of the BRCA genes, Dr. Vukelja said.
Nurse practitioner Alicia Lowery, who works with genetic testing at Texas Oncology-Tyler, said at least seven people come through the center for testing each week, about a 50 percent increase from the previous year. Dr. Vukelja noted that if positive, about 90 percent of patients opt for surgery.
Ms. Lowery said with a healthy lifestyle, it’s possible to further reduce chances of developing cancer. Getting educated about the signs is helpful, too.
“Knowledge is power,” Ms. Lowery said. “So if you know you’re at higher risk, you can know the signs of cancer. You can do more aggressive screening management, and you’ll be able to catch it at a smaller size so it’s not progressed to a stage four by the time it’s found.”
Mrs. McAuley’s and Mrs. Brantley’s experiences have made them mindful about their health. Mrs. Brantley said she and her mother are contemplating going vegan, or at least eating a heavily plant-based diet.
LEGAL RIGHTS, ACCESS
Dr. Vukelja said people used to be afraid to get genetic testing for fear that an insurance company would deem a positive mutation as a pre-existing condition.
“Insurance companies cannot discriminate because you have the gene,” she said. “In the past, that was the case.”
It is illegal for insurance companies and employers to ask about genetic information to make decisions on eligibility or pricing. A 2008 law, the Genetic Information Nondiscrimination Act, or GINA, was enacted to help strengthen federal laws already in place.
Furthermore, the Health Insurance Portability and Accountability Act (HIPAA) states that genetic information is protected health information.
Among the conversations about BRCA gene testing is the cost and access to it. The test is expensive, costing up to $4,500. However, Ms. Lowery said insurance companies are more eager to cover it because it’s less expensive than cancer treatment.
Mrs. Brantley and Mrs. McAuley both said their out-of-pocket expense were about $300.
According to the Affordable Care Act, “genetic counseling and BRCA testing, if appropriate, must be made available as a preventive service without cost-sharing.”
But the keyword here is “appropriate.” A patient must be deemed at-risk and referred by a doctor to have the testing covered.
For the uninsured and low-income patients, there is usually financial assistance available, Ms. Lowery said.
The MRI also is very expensive and is typically not covered as a preventive measure.
But for some, the costs and vigilant surveillance are just a minor inconvenience as they look forward to planning their lives. For many, it’s a blessing.
“We basically got the biggest warning you can get that medical science allows right now,” Mrs. McAuley said. “God gave us the biggest heads up ever. I understand people don’t want to know. But for me, I think it’s great that we have this heads up — that we have this huge warning. To me, it’s been a huge blessing.