Cedar Park woman, fearing high cancer risk, chooses hysterectomy, double mastectomy (statesman.com)

Genetic test showed woman had gene mutation that is associated with high cases of inherited ovarian, breast cancers

By Mary Ann Roser

AMERICAN-STATESMAN STAFF

Friday, Jan. 8, 2010

Jodi Vargas of Cedar Park was 30 in 2000 when she started worrying about dying.

Two years earlier, her mother had been diagnosed with ovarian cancer, the same disease that killed her mom’s cousin. She wondered about her own risk of developing cancer. Then her husband died in 2000 of a brain hemorrhage and her fear that their 7-year-old son, Henry Sekimotto, could be left without parents suddenly became very real.

In November 2008, three years after her mother died of ovarian cancer, Vargas said she was in her doctor’s office when she saw a poster about a genetic test for a mutation that drastically heightens the risk of ovarian and breast cancer. She asked to be tested. When the test found the flaw, Vargas said, “I knew what I was going to do.”

Nearly a year ago, on Jan. 20, she had a hysterectomy, and in April, at age 39, she had both healthy breasts removed.

“Fear motivated me to take care of myself,” said Vargas, who remarried in 2007. “I couldn’t bear the thought of my son … losing the only parent he had left.”

While Vargas’ choices might shock some people, many doctors say what she did was sound. Not all of them agree, however, with every choice she made. As genetic testing becomes more widely known, there is confusion surrounding it and debate about what to do if a mutation is found.

“It’s a new area in medicine,” said Dr. Karen Lu, a professor of gynecologic oncology and co-medical director of clinical cancer genetics at the University of Texas M.D. Anderson Cancer Center. “We are working very hard to educate physicians in the community about what’s involved.”

Lu said Vargas’ decisions made good sense and are not controversial, given the high cancer risk she faced.

About 10 percent of ovarian cancers and 3 to 5 percent of breast cancers occur because of mutations in the BRCA1 and BRCA2 genes, according to the American College of Obstetricians and Gynecologists.

The genes protect against those cancers, but if flaws are encoded on either gene, the risk of cancer heightens dramatically. Vargas, who had a BRCA1 mutation, faced a 39 to 46 percent greater risk of developing ovarian cancer than women in the general population; her risk of breast cancer was 65 to 74 percent higher, according to the American College of Obstetricians and Gynecologists.

Twelve percent of women in the general population face a risk of developing breast cancer and 1.4 percent will be diagnosed with ovarian cancer, the National Cancer Institute says.

No one knows how many women who test positive for either BRCA mutation undergo a preventive mastectomy because the data isn’t kept, Lu said. But it “is not at all unusual for our patients who test positive” to do that, she said.

The American Society of Clinical Oncology will release a seven-page statement Monday to help doctors and patients sort through genetic testing issues. It will include recommendations on the use and regulation of genetic technologies.

In 2003, the organization called for stronger oversight of genetic testing labs, a theme underscored by a genetics advisory committee of the U.S. Secretary of Health and Human Services in 2008.

The American Medical Association says on its Web site that because monitoring is effective in catching “most early-stage breast cancer, and the overall good prognosis of women with breast cancer detected at an early stage, prophylactic mastectomy is chosen by only a minority of women” with such mutations.

Most doctors agree that women with the mutation who are above child-bearing age should have their ovaries and fallopian tubes removed. A total hysterectomy, which involves also removing the uterus and cervix, is often recommended for women who have additional problems. But not all doctors favor mastectomies.

“Ovarian cancer is incredibly hard to detect until it’s advanced, so … it’s very important to get the ovaries and tubes out,” said Dr. William C. Wood, professor of surgery and chairman of the ethics committee at Emory University School of Medicine in Atlanta.

However, he says monitoring the breasts of women who have a BRCA gene mutation by alternating mammograms with MRIs greatly reduces the risk of breast cancer “developing and being a problem.”

He encourages women who want a mastectomy to at least wait.

“I have many patients in this circumstance who are delighted not to jump to prophylactic mastectomy,” said Wood, also co-chairman of the breast cancer steering committee of the National Cancer Institute.

Some women with the mutated gene might decide five or 10 years later they want the surgery, he said, so they can stop worrying and quit the constant breast monitoring.

Wood says he can support that. What he doesn’t favor, he said, are “doctors who urge it and push it inappropriately.” No mastectomy or ovary removal can guarantee a person will never get cancer in those areas, but the surgeries reduce the risk to single-digit percentages, experts said.

The National Breast Cancer Coalition also says women should weigh the emotional and physical risks of the surgeries, but it points out problems with the other options, too.

Monitoring breasts with frequent mammograms, for example, can increase radiation exposure, which might be worse for women with mutations in the affected genes.

Also, giving the drug tamoxifen to reduce breast cancer risk might not help women with the BRCA1 mutation and can cause serious side effects, including strokes and uterine cancer, the coalition says.

Vargas, a bookkeeper, said the surgeries gave her the peace of mind she craved.

She feels so strongly about genetic testing that she speaks to women to promote the it. The only company that offers the BRCA testing, Myriad Genetics of Salt Lake City, recruited Vargas to speak to groups, pays her expenses and once paid her an honorarium for a two-night trip, Vargas said.

It’s part of the company’s public awareness campaign and gives people who were tested a chance to share their experiences, said Dr. Gregory Critchfield, president of Myriad Genetic Laboratories Inc.

More than 40,000 people have been tested for BRCA mutations since Myriad began offering the tests in 1996. Orders rise annually, and the company’s revenue grows about 40 percent a year, he said.

Myriad holds a patent on the BRCA genes , which means other companies can’t do the tests and researchers don’t have access to the data without Myriad’s permission. The company, along with the U.S. Patent and Trade Office, were sued in May in New York federal court by breast cancer patient Genea Girard of Lago Vista, other patients, the American Civil Liberties Union, and medical organizations such as the American College of Medical Genetics, challenging the company’s patent rights.

Girard, who just turned 40, wanted a second opinion when she tested positive for the BRCA2 gene mutation after being diagnosed with breast cancer at 36.

She said she was considering a double mastectomy and having her ovaries removed but as a single woman with no children she wanted a second opinion and found “I couldn’t get validation” because of the patent.

“It’s a monopoly that shouldn’t be allowed to exist in health care,” she said.

Girard eventually had both surgeries and decided to challenge the patents.

The suit, which is still pending, could have national implications for genetic testing if it goes to the U.S. Supreme Court, as Girard and others expect.

Only a doctor can order the test, and by now most professional groups have guidelines on which patients to test, Critchfield said.

They include someone who has cancer or a specific family history of it.

The patient typically gets genetic counseling from the doctor’s office before and after testing, Critchfield said. If a woman tests positive, meaning she has the genetic mutation, her options are monitoring, prevention or treatment.

With her family history, Vargas met the criteria for the test, doctors said. When she had it ordered by the family practice doctor — whom she declined to name — she got results later from a medical assistant who did not give her accurate information, Vargas said. The office referred her to a local group of cancer doctors, but the oncology group said it had too many patients to take on someone who did not have cancer, Vargas said. She didn’t know where to turn for help.

Her husband, Jason Vargas, a 35-year-old software development company consultant, called Myriad Genetics and reached a genetic counselor who referred her to an Austin group with women who had faced some of the same issues. Some had either a hysterectomy or a double mastectomy. At least one had both surgeries.

Vargas met with the group and said the women looked good and were doing well. “I thought, ‘That’s going to me,’” she told herself. “This is not the end of my world.”

The women told her about Dr. Jonathan Buten, a Cedar Park obstetrician-gynecologist, who talked to her for more than hour about her options, and performed the hysterectomy at Cedar Park Regional Medical Center.

“I think what she did was very smart,” Buten said of her surgeries. “These are life-preserving.”

Buten, who speaks to other doctors on behalf of Myriad, said if a patient has a family member younger than 50 with breast cancer, ovarian cancer at any age, or a family member with either cancer and is of Ashkenazi Jewish (Eastern European Jewish) ancestry, he recommends they have the genetic test.

It has a list price of $3,120, Critchfield said, and insurers generally cover most of the cost. The results cannot be used to discriminate against people for basic health insurance or employment, according to a 2008 federal law.

Buten said patients shown to have the mutation who still plan to have children often opt for monitoring through blood tests and ultrasound rather than having ovaries removed.

“However, this is unreliable at best,” he said. As soon as a woman with the mutation has children, he recommends she get her ovaries and fallopian tubes removed.

Vargas chose to have her breast surgery at the Community Hospital at Dobbs Ferry, N.Y., by doctors who specialize in a one-step procedure that involves removing the breasts and reconstructing them using the patient’s own skin and nipples.

Her husband was supportive of the surgeries. They had already decided not to have children together.

“Knowing I would have my wife a lot longer than her mother was around, makes it an easier decision,” he said.

Insurance covered most costs, but because she went to a New York doctor not in her insurance network, the charges were higher, and they had to pay for hotels, flights and meals, Jodi Vargas said.

She estimated her out-of-pocket costs were $10,000 to $11,000.

“It’s a long recovery … but it was a small price to pay,” Vargas said. “I could be someone with a deadly disease right now.”