New London - Forget Angelina Jolie. Southeastern Connecticut has its own home-grown heroine pre-empting breast cancer in 29-year-old city resident Rachel Barclay.

"It's not the end of the world," Barclay said this week, chatting over lunch in the middle of a typically busy day of running two restaurants and an online business selling body fitness wraps.

A month ago, after a genetic test in May confirmed that she, like the actress, had a BRCA gene mutation - breast cancer susceptibility gene - that gave her an 80 percent chance of developing breast cancer, Barclay decided she would have a preventive double mastectomy and reconstructive surgery. Not one to pay attention to celebrity news, Barclay made her decision unaware of Jolie's public testimonial about her double mastectomy, only learning about it after others brought it up when they learned of Barclay's decision.

"My mom had breast cancer at 43, and she had the genetic test and we knew she carried the gene, so I thought it was best to find out," she said. "It wasn't a shock to me. About 10 other people in my family have had cancer. I just wanted to know all the facts and make a decision."

Barclay met with local surgeons, is getting insurance coverage issues resolved and has settled on a tentative date in early December. The parts she's most unsettled about, she said, don't involve the surgery itself but the prospect of having to stay inactive for eight weeks afterwards, and dealing with people who either try to talk her out of it or offer unwanted, if well-meaning, sympathy.

"It is what it is," she said, as the lunch crowd began filling the booths at Goldy's, the Colman Street restaurant she owns with her mother, Anita Miller. "You can't change it. There's no point in being upset about it. I'd just rather do this now, while I'm young and will probably heal quickly and can enjoy my 30s without worrying about breast cancer."

Well-known in the community from Goldy's and Dickson's, the downtown tavern she manages, Barclay is comfortable letting others know her plans, reasoning that since the change in her figure will be obvious afterwards, it just makes sense to be forthcoming.

Barclay is among an increasing number of local residents who have sought out or have been referred by their doctors for genetic testing, as services have become available locally and knowledge about them grows. Certified Genetic Counselor Rosemarie Keefe began offering the service in November at Shoreline Obstetrics & Gynecology in New London and now sees five to 10 patients per month for screening and counseling for various types of hereditary cancers.

The majority of her patients, including Barclay, are being tested for the BRCA mutation.

Power of knowledge

For patients coming for the BRCA gene test, the procedure is relatively simple, requiring only a blood sample, even if dealing with the results may not be. The sample is sent to an outside company for analysis. Six weeks later, Keefe meets with patients when the results, which she said have a 99 percent accuracy rate, are positive. She then provides counseling on the implications and next steps.

For patients like Barclay, the knowledge gives them the power they want to take control of their futures. But others are reluctant, even when their doctor recommends it because of family history.

"It's like that crystal ball," Keefe said. "Do you want all that fog in the crystal ball to clear up? There can be guilt associated with it."

Dr. Mike Lavalee, obstetrician-gynecologist at Shoreline Obstetrics & Gynecology, said that since Jolie's disclosure, more patients are asking him about genetic testing.

"It did raise awareness," he said. "Now that a celebrity has come forward, more women are thinking about it and coming to the doctor. We are picking up people who have family histories."

The BRCA testing isn't for everyone, Keefe emphasized. It costs about $3,400. Most health insurers will provide coverage for patients who meet specific criteria such as a diagnosis of breast cancer, multiple family members with breast or ovarian cancer, a close relative with pre-menopausal breast or ovarian cancer, a close family member who has tested positive for the BRCA mutation, and Ashkenazi Jewish ancestry, among other factors. In the general population, about 1 in 800 women have the mutation.

Only 5 percent to 10 percent of all breast cancer cases occur in patients with one of the two mutation types, called BRCA-1 and BRCA-2. But for those with BRCA-1 or BRCA-2, the risk of developing breast cancer is 50 percent to 80 percent, with variations depending on other factors specific to individual patients. In the general population, about 12 percent of women will develop breast cancer sometime in their lives.

Preventive mastectomy is not the only option available to women who test positive for BRCA-1 or BRCA-2, Keefe said. Some opt for more frequent screenings with mammograms and MRIs and intensive breast self-exams, taking medications such as Tamoxifen to reduce estrogen levels or having preventive chemotherapy.

Ovarian cancer risk

Dr. Anca Bulgaru, a medical oncologist at Eastern Connecticut Hematology & Oncology Associates in Norwich, recently completed a training course in cancer genetics and now offers genetic testing and counseling. She applauded Jolie's courage in going public with her story and raising awareness about genetic testing and prevention. But for patients who learn they have one of the two mutations, she said, there is often an emotional toll that should not be minimized amid all the focus on Jolie.

"It comes with a responsibility to inform other family members that they may be at risk, and it can be stressful," she said. "But long-term, people feel happier because they're taking control of what's happening to them."

Having one of the BRCA mutations, Bulgaru noted, increases the risk not only of breast cancer, but also of ovarian cancer. Some of the publicity about Jolie overlooked that aspect of the issue, she said, which is as serious as the breast cancer risk. Women with either BRCA mutation have an up to 40 percent chance of developing ovarian cancer. But, unlike breast cancer, there are no good screening tests for ovarian cancer, and it is usually not diagnosed until it's fairly advanced and difficult to treat.

"Ovarian cancer is more deceitful," she said. "The symptoms are very vague until it's at a late stage."

For that reason, Bulgaru said, women with the BRCA-1 or BRCA-2 gene mutations are advised to have their fallopian tubes and ovaries removed once they've decided to have no more children.

Barclay, for her part, isn't ready to make a decision on that surgery. She doesn't know yet whether she'll eventually want children. One of her doctors is advising her to have some of her eggs removed and frozen, just in case. Right now, though, she's focused on more immediate challenges - quitting smoking and stocking up on reading material.

"Other than that, I'm not doing anything different," she said. "I'm buying a lot of books so I'm not bored (during her recovery)."

She's also drinking less alcohol and getting more exercise, taking 6-mile runs with her dog, Darwin, at Bluff Point State Park in Groton.

"I'm turning 30 at the end of August," she said, "and I decided I would be in the best shape I can be in for my surgery."

j.benson@theday.com