Aleseia Saunders was overjoyed when she learned that she was pregnant with her first child at age 33. But that joy was soon overshadowed when, at her first prenatal screening, her doctor expressed concern about a lump in her breast.
“He thought it was just a cyst, but he recommended I get a biopsy and an ultrasound just to be sure,” Saunders tells Health. Two weeks later, Saunders got a phone call while at work. “They told me it was cancer—invasive ductal carcinoma,” says Saunders. “It was pretty heart-wrenching, first to get a call like this while I’m at the office, and second to get it after I just found out I was pregnant. I thought, ‘Where do I go from here?’”
Saunders quickly made an appointment with an oncologist. At her first meeting with him, the doctor laid out a plan. “He said I should terminate the pregnancy, and then he started explaining about the different drugs they use in chemotherapy,” she recalls. “He told me and my family to go home and think about it, but he also said, ‘there’s absolutely no way she can carry this baby.’”
The oncologist explained that chemotherapy was recommended because Saunders was young, African-American, and had no family history of breast cancer. These can all be signs that her cancer could be aggressive, and she would need aggressive treatment. But Saunders knew that chemo would mean losing her baby—and also potentially damaging her fertility and the chance to have more children down the road.
She wanted a second opinion, so she went back to the doctor who’d performed her ultrasound for advice. That doctor recommended a nearby breast surgeon—David Weintritt, MD, at the National Breast Center outside Washington, D.C.—who was able to fit her in for an appointment the very next day.
Dr. Weintritt saw things differently: He was hopeful that she could deliver a healthy baby and still beat her cancer. To find out for sure, he wanted to run a test called the MammaPrint that would sequence the genes in her tumor and provide more information about what kind of treatment would work best.
MammaPrint is one of several genomic tests currently available that doctors can use to analyze breast cancer tumors. These tests help doctors make decisions about patients who fall into a gray area when it comes to whether they should receive chemotherapy.
“In the old days, we would just treat any patient who we thought had high-risk features with chemo,” says Maggie DiNome, MD, associate professor of surgery at the David Geffen School of Medicine and director of UCLA Breast Health. (Dr. DiNome did not treat Saunders, and she has no affiliation with the MammaPrint test.) “We’d give chemo because a patient was young, or because her tumor was bigger than a certain size, or because she has a positive lymph node.”
But then doctors started to understand that not all breast cancers are the same—and they shouldn’t be treated the same, either. That’s where these genomic tests come in.
The MammaPrint test looks at 70 different genes in a patient’s tumor, and uses that information to determine whether a patient is at low or high risk of the cancer returning within 10 years. Those who receive a high score are good candidates for chemotherapy (which can reduce that risk), while those with a low score likely won’t benefit from chemo on top of surgery and radiation.
While MammaPrint has been FDA approved for nearly a decade, doctors have only begun to use it widely in the last few years, says Dr. DiNome. Clinical trials—including a major study published this summer in the New England Journal of Medicine—have continued to show that many breast-cancer patients can be treated without chemotherapy (even if they have certain high-risk features), giving doctors more evidence to trust these types of tests.
The MammaPrint test is usually done on tissue from a breast tumor that’s already been surgically removed, so it doesn’t require an additional procedure from the patient’s perspective. In Saunders' case, however, because of her pregnancy, her doctor performed the test on a biopsied sample.
“Fast forward to when I got my test results, and my doctor told me that chemotherapy was not the answer,” says Saunders. “Based on the results, he felt confident that he could remove the tumor surgically—but it had to be immediately, at the beginning of my second trimester.” She would need radiation as well, but that would have to wait until after her daughter was born.
Saunders underwent a lumpectomy, in which her surgeon removed her tumor and a margin of tissue around it. During the procedure, an anesthesiology team monitored not only her own oxygen levels, but those of her unborn baby.
The surgery was a success, and a few months later, Saunders gave birth to her daughter, Julia. Soon after, she started radiation treatment and began taking tamoxifen, a drug that blocks estrogen receptors from feeding cancer cells.
“It was rough,” she says. “I was trying to juggle a newborn while taking this medication that basically makes you premenopausal, with hot flashes, night sweats, and mood swings.” The radiation, meanwhile, “burns your skin, makes you tired, robs you of appetite,” she remembers. “I was basically a zombie during that period.”
But things got better, and today, both Saunders and 3-year-old Julia have clean bills of health. “After Julia was born, I took her to an appointment with Dr. Weintritt,” says Saunders. “She must have recognized his voice from all the time I spent in his office while I was pregnant, because as soon as he started talking, she lit up and started giggling and cooing.”
Saunders knew she wanted more children some day, so she worked with her doctors on a plan to discontinue tamoxifen (which can cause pregnancy complications) after two and a half years. Today, she’s expecting again, and her second daughter is due in December.
“I’m so thankful, because if I had just taken the advice of that first oncologist and had chemo, I may not have been able to have any children afterward, let alone give up my first pregnancy,” she says. “That’s one reason I share my story, because I want other women to know that they may have other options.”
Not every breast-cancer patient is a candidate for genomic testing or can be treated without chemotherapy, says Dr. DiNome. In the United States, MammaPrint is approved for use on cancers that are stage I or stage II, invasive, and smaller than 5 centimeters.
“These tests are really only beneficial to the group where you’re thinking that you might give chemotherapy,” says Dr. DiNome. If patients already have a low-risk profile without the test, they don’t need it. Conversely, if their tumor is very large or has other features that make it clearly high-risk, a doctor will likely perform recommend chemotherapy no matter what.
MammaPrint also isn’t the only option for this type of test. Another test, called Oncotype DX, looks at 21 genes. While MammaPrint simply delivers a “low” or “high” score, the Oncotype DX results add an “intermediate risk” category. (The latest research suggests that even women in this intermediate category can go without chemo, says Dr. DiNome.)
Both MammaPrint and Oncotype DX can be used for women with hormone-positive cancers. MammaPrint can also be used for women with hormone-negative cancers, but Dr. DiNome says that most physicians won’t order it for these cases. “For hormone-negative tumors, we don’t have any other targeted therapies besides chemotherapy,” she says. “So if you don’t give chemo, you’re really putting those patients at risk.”
These tests are generally approved by insurance companies, although Dr. DiNome says that Oncotype DX is currently more readily approved because it’s been around longer. It’s also very difficult to get them both covered, she says, “so patients should really talk with their oncologists about which test they recommend and which test is best for them,” she says.
Dr. DiNome sys it’s not surprising that three years ago, Saunders' oncologist didn’t think to order a MammaPrint test. Some doctors have been slow to trust their results, she says, especially for young women. (Although younger women have been included in the studies on genomic testing for breast cancer, most participants have been post-menopausal.)
But experts are growing more confident in these tests, says Dr. DiNome. “We’re getting more and more data that supports the fact that we can’t just apply the same treatment to everyone who has a hormone-positive cancer,” she says. “We now know that molecular signature of the tumor is the most important predictive factor we should rely on when we’re making an assessment about treatment.”
The staging system for breast cancer also changed in early 2018, and it now takes into account genomic testing and the genetic makeup of the tumor. “The whole community now recognizes that this is an important part of diagnosis,” says Dr. DiNome. “Now it’s on everybody’s radar.”
The bottom line, says Dr. DiNome, is that more and more women—like Saunders—have been able to forego chemotherapy thanks to these tests. “This is definitely good news,” she says, “and it’s great that we’re moving in the direction of more personalized care.”