Genetic tests can help with predicting some cancers, treating others

In In The News by Barbara Jacoby

By: Stacey Federoff


Rosemary Wargula of Hopewell Township has folders’ worth of papers with information about her last 12 years battling cancer, beginning in 2004.

A nurse for more than 40 years before she retired, Wargula, 72, put on red reading glasses held around her neck with a string of beads to read from a small notebook, where she keeps details, including notes about a diagnostic genetic test.

“I’m always questioning; I question, question — my head’s a big question mark,” she said.

She has needed those notes to pass on information about the genetic test to a support group of breast cancer survivors, doctors in Beaver County and her native Luzerne County, and to speak in Washington, D.C.

At an appointment after a lumpectomy in 2005, her oncologist pushed for chemotherapy treatments to start right away.

Armed with her folders of information, Wargula knew instead that she was a candidate for the test that could determine whether she had a low chance of her cancer recurring — and that could keep her from suffering through chemo.

“A week later, I get a phone call,” she said, and the doctor told her, “‘The test came back, and your recurrence is a 7 percent; you do not need chemo.’

“And I went, ‘Hallelujah!'”

Genetic testing — like the Oncotype DX test that benefitted Wargula — can either better predict a cancer risk or, once someone is already diagnosed, find better treatment, said Dr. Yuri E. Nikiforov, pathology professor at the University of Pittsburgh School of Medicine.

Several factors determine whether a patient is a good candidate for predictive genetic testing, that which examines inherited mutations prior to any diagnosis, said Dr. Beant Gill, radiation oncologist at UPMC/Heritage Valley Cancer Centers in Beaver and Moon Township.

If someone has a number of first-degree family members who have had cancer at an early age, then predictive testing may help detect an inherited genetic mutation, he said.

“If they know about that up front, they can be properly counseled for the risks,” Gill said.

Breast, ovarian and pancreatic cancers are most detectable by inherited genetic mutations, but others like Lynch syndrome, associated with a genetic abnormality that can cause colon and endometrial cancer, may also be detected, Gill said.

BRCA1 and BRCA2 are the most common genes that can carry mutations indicating a cancer risk, made famous by Angelina Jolie’s 2013 column in the New York Times about her choice to have a preventative double mastectomy to decrease her risk of developing cancer.

Gill called this high-profile visibility of predictive genetic testing a “double-edged sword,” since it alerted many readers to appropriate screening, but undergoing surgery after testing positive is highly invasive.

Only between 5 and 10 percent of all cancers are thought to be related to an inherited genetic mutation, according to the American Cancer Society.

He said he treats about one patient per month that has benefited from predictive genetic testing.

These kinds of tests should not be viewed as a silver bullet to stop cancer, however, like a vaccination for a virus, he said.

“I don’t think we should be testing everyone, because the cost of that would be astronomical” both for patients and the health-care system, Gill said.

Wargula has continued in the last 12 years to advocate for the Oncotype DX test, which is best for women with Stage 1 or 2 breast cancer who are lymph-node negative and estrogen-receptor positive.

“I just want to get the message out,” she said. “I want to save women from suffering, from pain.”

With the help of San Francsico Bay area-based Genomic Health Inc. that makes the test, Wargula traveled twice to Washington, D.C.: once to speak before the Society for Women’s Health Research and once to encourage lawmakers to pass a bill to cover diagnostic genetic testing through Medicare.

The test costs about $3,500, but chemotherapy can cost insurance companies tens of thousands of dollars, Wargula said. Now, about 10 years later, medicare and most major insurance companies cover the test.

“That was a big hurdle for them to get over for that to happen, so I was glad to be a part of it,” she said.

While more than 1,000 genetic tests exist today, according to the American Cancer Society, Gill said researchers have for the past several decades been attempting to determine common genetic abnormalities within tumors.

“Over time, we’ve realized how complex cancer mutations can be,” he said, and developments like using genetic markers to predict how a brain tumor will respond to treatment have improved.

If someone has already developed cancer, their families can be tested in certain cases.

“The idea being … it may impact the rest of the family in a way we can appropriately prevent cancer from occurring or properly manage that risk,” Gill said.

Supporting cancer research, especially in the realm of genetic testing, can help advance progress more quickly, both Gill and Nikiforov agreed.

“There’s always a need for more funding and more support,” Gill said. “If we can better identify those types of abnormalities … then the idea is that we could screen more patients at high risk.”

Nikiforov said the way of thinking about precision medicine still has a long way to go, including studying cancer and the way the mutated cells can be better interpreted through genetics. By way of example, he cited how the human genome sequence was only completed in 2000.

“The more and more we learn about cancer, the better we can treat it,” he said. “Progress is very far from being over. … We’re finding better ways to diagnose it and better ways to treat it, but, of course, it takes time.”

For now, Wargula still gets emails from women she met more than 10 years ago about the diagnostic test for breast cancer, and she knows more oncologists at the cancer center in Beaver recommend it.

“You need to have your doctor send in a tissue sample,” she said. “I thought, ‘If I could save just one woman … ’ then, I thought, ‘Why one? Why not more?’”

In 2014, however, Wargula was diagnosed with colon cancer.

“Mother Theresa said that God’s a jokester. I fought so hard not to do chemo for my breast cancer, and now I’m getting chemo for my colon cancer. So she also said he won’t give you more than you can handle, but I don’t know why he trusts me,” Wargula said. “I guess I’ll get though it. I am getting through it.”