Genetic test helps predict breast cancer recurrence

Baltimore Sun

When Tracie Hoyt found a lump in her breast last summer, doctors confirmed it was cancer. After surgery to remove the lump, she expected radiation treatments and months of chemotherapy.

A self-described workaholic, Hoyt worried she would be too ill to deliver mail. "You hear how terrible chemo can be on your body and that people are really sick," she said.

But to her surprise, Hoyt, 46, was spared the chemotherapy.

A genetic test known as Oncotype DX provided a look at the inner workings of the tumor, helping her doctor predict that chances were low her particular type of cancer would return. The test's manufacturer says Oncotype DX has been performed on about 17,000 women.

It is among the tools making their way into doctors' hands and patients' lives as technology emerges from genetics research. The tools, which include screening tests and targeted drugs, help doctors tailor treatments for breast and other cancers.

"This is just the tip of the iceberg," said Jonathan Weiner, a professor of health policy and management at the Johns Hopkins Bloomberg School of Public Health. "There are only a dozen or so examples now, but one day there are going to be thousands."

Even now, patients, doctors and insurance companies are struggling to keep pace.

Much of the genetics research is focused on treating breast cancer, a disease expected to strike more than 210,000 American women this year and kill more than 41,000.

Breast cancer, like other types of cancer, begins when abnormalities in the genetic machinery of a cell cause it to spin out of control. "Cancers start as one cell -- one little nasty cell that goes awry," said Dr. Michael J. Schultz, who is Hoyt's physician and the medical director of a new breast center at St. Joseph Medical Center.

As that cell divides, it produces an army of similarly rebellious cells -- a tumor.

In the past, doctors were limited to such factors as a patient's age, family history and tumor size in assessing the danger and deciding how to combat it. That has changed as researchers identify genes that, when mutated, alter the normal behavior of cells.

Oncotype DX, a test that was approved in a peer-reviewed process, profiles the DNA of a woman's tumor cells by looking for mutations in 16 genes linked to breast cancer. If the analysis shows the genes are not flawed, chemotherapy is not expected to improve the woman's chances for survival.

Women who scored favorably on an Oncotype DX test gained "minimal, if any, benefit from chemotherapy treatment," according to a study published in August. The test is valid only for women with early-stage breast cancers that respond to estrogen and have not spread to the lymph nodes.

Although chemotherapy is recommended for most women with breast cancer, those who benefit substantially make up a "fairly small" proportion of cases, according to the National Cancer Institute.

In Hoyt's case, the test showed she had a good prognosis. She avoided chemotherapy and has returned to work.

She credits Schultz for recognizing her eligibility for the test. "He pushed for that," she said, "and that's what saved me from chemo." Her insurance covered most of the $3,600 cost of the test.

For another of Schultz's patients, Doreen M. Lecheler of Harrisburg, Pa., getting the test wasn't so easy, even though the doctor had recommended it.

Lecheler, 45, found out she had breast cancer after her annual mammogram in July. "The thing that everyone said to me was, 'If you're going to be diagnosed with breast cancer, you couldn't have picked a better time in history,' " she recalled. "I was so excited about the things that they're offering now."

Her insurance company, however, refused to pay for the Oncotype DX test or for a new, minimally invasive form of radiation therapy. Lecheler paid out of pocket for the test and, based on the results, she opted to skip chemotherapy.

She is now undergoing radiation -- the more invasive method -- and taking the estrogen-blocking drug, tamoxifen.

"I am really doing great," she said of her morale. "The hard part has been dealing with this anger and frustration with the insurance company."

Stories like Lecheler's will probably become more common as new gene-based tests and drugs flow onto the market.

"This industry is at the beginning stages of a disruptive innovation," said Randy Scott, chief executive of Genomic Health Inc., the California company that developed Oncotype DX.

Scott said about 60% of patients paid for the test themselves. He expects most insurers to cover it by the end of next year -- four years after its introduction in early 2004.

Government health agencies and insurance companies -- "payers" in medical industry lingo -- generally take a cautious approach to adopting new technologies, he said.

"It's certainly frustrating for us and consumers and physicians," Scott said. "But it also makes sense that payers aren't just going to jump on the latest technology."

Maryland's largest insurer, CareFirst, is bracing for the arrival of new tests, said Dr. Daniel Winn, associate vice president and senior medical director of CareFirst. "We're going to have to look at each one on an individual basis," he said. He said the insurer covered Oncotype DX and would probably cover other tools that prove effective.

Biotech companies also are working on new DNA tests they hope will show the likelihood of developing breast cancer. To predict who is at greatest risk, some new tests examine a woman's DNA for alterations called polymorphisms.

InterGenetics Inc., an Oklahoma biotech company, is seeking FDA approval for one such test, called OncoVue. A DNA analysis is performed on a woman's cheek cells, collected by having her swish and spit a special mouthwash.

Proponents say women found to be at high risk could take extra steps, such as more frequent mammograms.

But Dr. Kathy S. Albain, a professor at Loyola University Chicago Stritch School of Medicine, said the predictive power of such testing was scientifically unproven and its use premature: "We shouldn't let our enthusiasm and wish to be further along cause needless alarm in patients or give a false sense of security."

One genetic innovation that has had great effect is the BRCA blood test introduced in the mid-1990s. It looks for mutations in the BRCA 1 and BRCA 2 genes that make a woman's chances of developing breast cancer as high as 85% and also increase the risk of ovarian cancer.

Of all breast cancers, 5% to 10% run in families. Most of those cases are believed to be linked to the BRCA genes.

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