DNA Dilemma

The Q’s and A’s of Genetic Testing for Breast Cancer



In October, this statistic will be heard often: One in eight American women will get breast cancer in her lifetime. And there will be other numbers, too, including: This year alone some 230,000 women will get breast cancer; nearly 40,000 are expected to die from it.

But consider this: The numbers have actually declined since 1990, according to the nonprofit Breastcancer.org, particularly in women over 50. At the same time, however, public awareness of the disease has grown significantly.

Breast cancer’s greatest re-boot back into public consciousness may have come last May. That’s when actress Angelina Jolie, in a New York Times op-ed piece, informed the public of her intent to undergo a pre-emptive bilateral mastectomy (surgical removal of both breasts). That decision came after she tested positive for a gene mutation that increased her chances of getting breast cancer to more than four in five.

The move took the media and medical world by storm. Gail Martino, a genetic counselor at Banner MD Anderson Cancer Center in Gilbert, Ariz., was working at the University of Arizona Medical Center at the time.

“When the news broke, we had a huge uptick. It got a little crazy,” Martino recalls.

Genetic testing on the mind

But delving deeper into breast cancer statistics and linking them to the BRCA1 and BRCA2 mutations — the ones Jolie had — shows that only about 10 percent of women with breast cancer will get it as a result of genetics.

The BRCA1 and BRCA2 genes are considered tumor suppressors when healthy. But with mutation, the genes lose their ability to suppress tumors in cells. At that point, the possibility of contracting breast cancer skyrockets.

A BRCA1 mutation is most often associated with breast cancer, as well as ovarian cancer. BRCA2 mutations also can be tied to prostate cancer, according to Dr. Josette Spotts, a breast surgeon with Comprehensive Cancer Centers of Nevada. BRCA1 and BRCA2 mutations also are tied to melanoma, pancreatic and other cancers. There are numerous other mutations that scientists are trying to better pinpoint today, even BRCAs 3, 4 and 5, which could be a genetic link to many other cancers.

Dr. Mary Ann Allison, a medical oncologist with CCCN, said genetic testing has been on her radar for about the past five years, largely due to better technology. But while the Jolie situation created a spike in the number of questions and requests, she says getting a test that is covered by insurance requires solid proof of necessity.

“You don’t want to inappropriately do a test if someone doesn’t have a chance of being positive,” she said.

Allison said it’s important for those considering the testing to understand what doctors like her look for when they do a family history and medical evaluation. According to the National Comprehensive Cancer Network, some of the genetic testing referral criteria includes early-age onset of breast cancer, triple negative breast cancer, having breast cancer along with a blood relative who had it younger than age 50. Combinations of breast cancer with other tumors, including thyroid, sarcoma, endometrial, pancreatic and others, also could trigger a genetic test referral.

For those who don’t have cancer, doctors look for evidence of two or more breast cancers on the same side of the family, one or more ovarian cancers on the same side of the family or a known mutation of a cancer susceptibility gene. Also, those who are descendants of Ashkenazi Jews with a breast or ovarian cancer in their family line can be considered for testing.

“In some cases, some patients just absolutely want it, regardless. In that case, they need to understand that their insurance may not pay for it,” Martino says. Average costs for a genetic test are around $4,000.

Do we really want to know?

Martino evaluates about six new patients a week for genetic testing; half are usually self-referred. She spends a lot of time explaining the benefits and limitations of testing, and the gray areas that can surface from either getting more or less information than expected. There is an obvious benefit to simply knowing if one has the mutation, she says.

“Patients can get pretty clear answers,” she adds. “Other family members can also be tested. The cost usually drops for other tests.”

And sometimes the bad news from one test can bring good news for others in the family. Martino has seen situations where a mother had the mutation, but learned her daughter didn’t. At that point, the mutation stops.

“It doesn’t jump generations. So the daughter can’t pass it on,” Martino explains.

Figuring out who gets tested in the family also can be tricky. Someone who doesn’t have cancer but is adamant about getting tested may not be the ideal family tree candidate.

“There could be a case of a patient at 50 who hasn’t had cancer, but a niece who is 30 and has. I’d rather test the niece,” Martino says.

If, in the above example, the niece has the mutation while the person who came for the initial consultation doesn’t, there can be tremendous guilt, Martino says.

Parents with the mutation often are conflicted over how and when to discuss the matter with their children, especially if the child is young.

“You don’t want to test (the child) until they’re old enough to understand what the results mean,” Martino says.

Dealing with parents and their children can be challenging for a genetic counselor.

“The toughest part is watching a parent who has something they are desperately scared of passing along to a child,” she says. “Then the child goes to testing to see if they have it. The guilt parents feel is tremendous. No matter what reassurance you try to provide, you can’t take that guilt away.”

Spotts, who does her share of counseling with patients, too, sees some women who are good candidates for testing but decide against it.

“Some will have the history and just look at me and say, ‘I’m not ready,’” the surgeon says.

Susan VanBeuge, a nurse practitioner and assistant professor in residence at UNLV’s School of Nursing, studies these many related issues to genetic testing.

“Science doesn’t always touch the heart. … We are people, and there are always aspects to this that make it tougher,” she says. “We’re smarter. Our machines are getting better. But we are going to continue to have these philosophical questions.”

‘Positive’ decisions

With a positive genetic mutation, a prophylactic bilateral mastectomy seems logical to many women, Spotts says.

“People can go crazy not knowing when or if the cancer will surface,” she says. “It’s amazing when people are in that position how logical they actually become.”

Test results can also influence the scope of the surgery. In some cases, a woman with breast cancer and expecting a lumpectomy can learn she has the gene and must suddenly face the prospect of a mastectomy.

“For some patients, it’s hard for them to comprehend why we need to be so aggressive,” Spotts says.

Jolie’s revelation may be causing too many unneeded bilateral mastectomies, some say. According to a recent study in the Annals of Internal Medicine, researchers highlighted a concern over women with cancer in one breast deciding to remove the second breast as well, in hopes of reducing chances of the cancer spreading. The report noted that the procedure, known as a contralateral prophylactic mastectomy, does little to boost survival rates among the breast cancer patients. Some 20 years ago, between 4 and 6 percent of women opted for CPM. Today, researchers believe that figure could quadruple.

Spotts also said insurance status still influences these decisions. She has seen plenty of cases where insurance will cover the one affected breast and not the healthy one. And many patients can only afford so much out-of-pocket expense.

While insurance coverage barriers still exist for breast cancer sufferers with or without the BRCA mutation, legislation passed in the late ‘90s and in 2008 has pressed insurers on the matter. Now, if a lumpectomy or mastectomy is performed, insurers must also cover the cost of reconstruction. In 2008, the Genetic Non-Discrimination Act eliminated insurance companies’ pre-existing condition clauses for patients who test positive for a genetic mutation.

“I’d seen in past years, especially in breast cancer patients, women who were afraid to have the test done,” VanBeuge adds.


Dr. Orna Fisher, a valley plastic surgeon with a large breast reconstruction practice, said that beyond insurance concerns the patient’s health also comes into play when it comes to reconstruction outcomes.

“Even though the reconstructive options are very good, not every option is there for every woman,” she says.

Whether a patient has cancer or has opted for a preventative surgery, as Jolie did, are strong factors that can influence the success of a reconstruction, Fisher said. For patients undergoing chemotherapy, it’s common for reconstruction surgeries to be delayed due to the patient’s overall health. While radiation technologies have advanced greatly through the years to more precisely target a cancerous region, radiation still damages tissue permanently, Fisher says. The damaged tissue often can cause difficulties when next to implants or tissue from other areas of the body used in reconstruction.

The greatest aesthetic successes come with a bilateral mastectomy, the surgeon says. Ideally, a skin and nipple-sparing procedure, where the breast tissue is removed through an incision, leaving what Fisher describes as a “breast skin bag” that can be filled with an implant or tissue from another area of the body, offers the best outcome.

Still, final outcomes also largely depend on how oncologists and surgeons work together. While some surgeons try to save as much of the breast as possible, by not doing a full mastectomy, they can create less favorable outcomes on the aesthetic side of the equation, Fisher says.

The surgeon says far too many women are unaware of all the options they have for their reconstruction, which only about three in 10 actually do. Fisher highlights the importance of Oct. 16th, which is Breast Reconstruction Awareness Day. BRA Day, she says, promotes and educates women about the options they have for breast reconstruction.

“Sometimes the surgeon just may not know. … Women aren’t being told, and they sometimes find out much later,” she says.