This last-resort test saved 2 women from cancer

Christine Bray was 30 years old in 2010 when she was first diagnosed with ovarian cancer.

“I was stage 1C”—meaning the cancer had not yet spread outside of her ovaries—“so my prognosis at the time was very hopeful,” she said.

But despite rounds of surgery and radiation and chemotherapy, the cancer kept coming back. Eventually, her prognosis shifted “from very hopeful to very dim,” Christine said. 

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“I had two young children and I was being told, basically, to get my affairs in order,” she said. “I was not given much hope.” In fact, Christine was told she had around a month of "good-quality life" left to live.

It was around this time, early 2014, that her doctor at Cancer Treatment Centers of America proposed genomic testing.

“I had never heard of this form of testing before,” she said. “It was completely new to me.”

Considering the bleakness of her prognosis, she was excited to hear she had a hopeful new option.

“Considering where I was, to be able to live a normal life and look forward to watching my kids grow up is amazing.”

Her doctors sent her tumor cells to the labs of Foundation Medicine. Their tests identified mutations within the DNA of Christine’s tumor cells that indicated she might respond well to a targeted drug therapy called everolimus (trade name Afinitor), which is normally used to treat renal (or kidney) cancer. She started on everolimus in 2014.

“It was a drug intervention—I take a pill every day with a glass of water,” she said.

After three years on the drug, her cancer has retreated: “I’ve had completely clear scans and my cancer is in remission."

“I never would have thought this was possible,” she adds of the seemingly miraculous outcome. “Considering where I was, to be able to live a normal life and look forward to watching my kids grow up is amazing.”

What Is Genomic Testing?

Every cell in your body contains 20,000 to 30,000 genes. By examining those genes for abnormalities or “mutations,” genetic testing can determine if the makeup of your DNA puts you at greater risk for certain types of cancer. 

The test offered by Foundation Medicine and other genomic testing companies is slightly different in that it also examines the genetic makeup of tumor cells.

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By “sequencing” the genes within a person’s tumor cells, the test can in some cases identify mutations that may respond to new and more-targeted treatment options, said Kojo Elenitoba-Johnson, MD, a professor of pathology and laboratory medicine and director of the Center for Personalized Diagnostics at the University of Pennsylvania Perelman School of Medicine.

Genomic testing can also eliminate treatment options—an outcome Elenitoba-Johnson said is also useful.

“This can prevent wasteful and counterproductive treatment courses, and it saves critical time that may be wasted in applying the wrong therapy,” he explained.

It's important to note that, while drug companies are developing new treatments all the time, “drugs do not exist for every genetic mutation,” he added. “There are many more mutations than there are therapies at this point.”

Whether insurance will pay for the test or treatments also depends on the specifics of your situation and coverage.

Another Success Story

Like Christine Bray, Colleen Farrell was young—just 33—when she was first diagnosed with cancer.

“In the summer of 2014, I’d started feeling run down,” she recalled. “I started napping every day, which was totally unlike me, and I had discomfort in my lower back.”

Doctors initially pegged her discomfort as a pulled muscle. But by that fall, they had identified a tumor. Colleen had advanced colorectal cancer. 

“I was Stage 4, so it was bad,” she recalled. “It wasn’t quite, ‘Go home and plan your funeral,’ but it was, ‘Be aware that you might have to soon.’ ”

Despite radiation and chemo, the cancer soon spread to her liver and both her lungs.

“I was blown away—just devastated,” she said. “Things were very grim.”

The images came back showing that not only had the tumors not grown, but they’d started to recede.

Her doctors told her about genomic testing, and that it could open doors to new treatment options.

“They told me some people were having success, but there were a lot of unknowns,” she recalled. “I asked what my odds were without it, and they told me ‘a couple of months,’ so I obviously wanted to try it.”

The results her doctors got back from Foundation Medicine indicated her cancer might respond to immunotherapy.

“I started it in March of 2016,” she said. “Eight weeks later, I had my first scan, and the images came back showing that not only had the tumors not grown, but they’d started to recede.”

She said her doctor was “floored.” Back when her rectal tumor had first been discovered, it had measured 12 centimeters. After just one course of the new treatment, it had shrunk to 7 cm.

“My doctor couldn’t believe how well it was working,” she said.

In fact, the new medication almost worked too well.

“I ended up having three massive hemorrhages and almost died because my tumor shrank so quickly that all the blood vessels and organs that were smushed up suddenly started pumping blood again,” she said. “So that tells you how quickly it worked.”

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Colleen said she’s not completely out of the woods.

“But I never thought I’d be where I am today,” she added. “I think all the time how lucky I was to have benefited from this—that I could try it—because not everybody can.”

Who’s A Candidate For Genomic Testing?

As recently as a few years ago, the type of gene sequencing performed during this test would have cost millions of dollars and taken years, not days, to complete, Elenitoba-Johnson said.

Because the genomic testing platform is so new—and many of the associated treatment options are still in clinical trials—genomic testing may only be appropriate when conventional approaches like chemotherapy have failed, he said. It really depends on the type of cancer a person has.

“For some forms of leukemia, the knowledge of the disease response is pretty mature, and so the first-line management is receiving this test and one of these new targeted therapies,” he explained. “In other cases, drugs [targeting the mutations] have only recently become available, and knowledge of their effectiveness and side effects is not as well-understood.”

He mentioned lung cancer, colorectal cancer, and melanoma as other forms of cancer for which genomic testing may be appropriate. But again, it depends on the individual patient and the specifics of their cancer.

Needless to say, the science of cancer diagnostics and treatment has entered a new and exciting phase. Genomic testing, coupled with newer, more-targeted therapies, is already saving lives.

The future is here, and it is bright. But there’s a lot more work to be done.

This article first appeared on Prevention Magazine.