Mean gene

Julie Auton is a breast cancer survivor. When she was first diagnosed seven years ago, doctors had no idea why she developed cancer at 42.

She exercised frequently, drank plenty of water and ate right. As her friends told her, “If Julie the health nut got cancer, there’s no hope for the rest of us.”

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BARRY WILLIAMS / Special

After surviving a bout with breast cancer, Julie Auton started a blog to share her experiences with the BRCA gene.

Now Auton knows that her cancer is hereditary. She’s quick to tell people that BRCA genes — the genetic mutation that makes some women more susceptible to breast and other cancers — is her four-letter word. She’s also tells them that more people need to be aware of BRCA genes and what they mean.

“My mother was diagnosed with Stage 0 breast cancer after 65, and my grandmother had breast cancer at 67, but since both were post-menopausal, my doctor, a national expert, didn’t think my cancer was hereditary eight years ago,” said Auton, executive director of apparel marketing at AmericasMart Atlanta.

During a followup visit in 2007, her doctor, who had read more research on heredity and breast cancer, suggested that Auton get tested for the BRCA gene. Worried about how the results might affect her insurance coverage and the cost — the test runs around $3,000 — Auton ignored the suggestion.

“But then I mentioned it to my gynecologist… and her immediate response was, ‘You need to do it,’ ” she said. “She told me that not only was I running the risk of another breast cancer, but that my risk of ovarian cancer was also high. She explained that there’s no early screening test for ovarian cancer, that it’s deadly and that I didn’t want it.”

Change of heart

Still Auton waited until a suspicious mammogram and other symptoms changed her mind about the test. Auton saw a genetics counselor, who took information about her family tree and health history, and determined that she was a candidate for testing.

Auton learned that most insurance companies will pay for the test — especially for breast cancer survivors — as well as prophylactic surgeries, because the cost is still less than that of cancer treatments.

“The lab doesn’t report the results to your insurance carrier unless you ask them to cover the cost,” she said. “It takes three to four weeks to get results, because my counselor told me that sifting through your DNA looking for a mutation was like sifting through a jigsaw puzzle with 16,000 pieces.”

Auton’s test came back positive for the BRCA gene, leaving her with some tough decisions to make. Auton encouraged her mother to get tested and the results were negative, meaning that the gene came from her father’s side of the family.

“If one family member has been tested, others can be tested for $300, because the lab knows where to look,” Auton said. “Just because a relative had it doesn’t mean you will, but for $300 wouldn’t you want the peace of mind of knowing?”

Auton decided to have surgery. In February, she had a double mastectomy and had her her ovaries and her fallopian tubes removed. A plastic surgeon also began breast reconstruction.

“They didn’t do a hysterectomy because it was simply too much surgery at one time,” Auton said.

‘A lucky woman’

After a slow and painful recovery, Auton thought she was through the worst, but tests revealed precancerous cells in her fallopian tubes.

“He told me he was taking me to [Las] Vegas, because I was a lucky woman,” Auton said.

She didn’t feel lucky.

“But he explained that if I had put the surgery off, this cancer would have been invasive in six months and the results would not have been good,” she said.

A hysterectomy and pelvic wash three months later showed no signs of cancer. With a reduced risk of breast and ovarian cancer, Auton is grateful to have recently turned 50 — and for the two doctors who saved her life by urging her to get tested.

“They’re finding out much more about the genetic link, and if you had breast cancer years ago, your doctors may have a different opinion now. Ask,” Auton said. “There just isn’t as much information out there about BRCA as there should be.”

Auton does her part to spread the word about the BRCA gene. While sequestered after her first surgery, e-mail was Auton’s lifeline but it became overwhelming to keep up with her friends individually. A friend suggested that she start a blog so friends could keep up with her progress.

“It started off as a personal journal, a way to vent about cancer and surgery, but then friends began sending it to people they knew who had cancer, because they said it was informative,” she said. “When I realized I could express my personal emotions, tell people what I’ve learned, and help educate them about BRCA — a blog was born.”

New law protects against genetic bias

Thanks to a new law, cancer patients and people who are high risks for cancer and other diseases no longer have to fear discrimination if they undergo genetic testing.

On May 21, President Bush signed into law the Genetic Information Nondiscrimination Act (GINA), which protects people from genetic discrimination by health insurers or employers.

Many patients, like Julie Auton, have wondered what would happen to their health insurance or to their jobs if they test positive for a genetic anomaly that could cause disease. GINA eliminates that worry and allows people to reap the benefits of genetic testing.

According to John D. Kemp, executive director and general counsel for the U.S. Business Leadership Network, genetic information is invaluable.

It can help doctors diagnose and treat illnesses. Researchers can create more-effective drugs, and patients can better manage their health.

But fear that the information would be misused has kept some patients out of genetic testing and clinical

trials.

GINA prohibits health insurance companies from basing eligibility determinations or adjusting premiums on the basis of an individual’s genetic information.

“Insurance companies cannot request, require or purchase the results of genetic tests, and they are prohibited from disclosing personal genetic information,” Kemp wrote.

Employers are prohibited from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment.

To learn more, visit Coalition for Genetic Fairness.