View a related story: Angelina Jolie admired for bravery in revelation about double mastectomy
The factors doctors and insurance companies typically look for before recommending or approving genetic testing are:
• People with more than two close relatives -- who have had cancer post-menopause
• People with a relative who had cancer at a young age.
• People who have had a case of male breast cancer in their families.
Source: Dr. Betsy Washburn, breast oncology surgeon with the MaryEllen Locher Breast Center at Memorial Health Care System
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Doctors told her to take her time, to weigh the significance of her decision. Her body would never be the same.
But for April Riddle, the time was now. There was no decision. Life was more important than looks.
Riddle, of Trenton, Ga., had already lost her husband to cancer. She had lost two friends to breast cancer before they reached 40, and two great aunts later in life. She had just found out that she had a gene defect that gave her an 84 percent risk of developing breast cancer herself.
So she opted for a preventive double mastectomy and a hysterectomy.
That was five years ago. And she has never once felt regret. When the procedures and reconstructive surgery were all finished, doctors said that Riddle's risk of getting cancer had plunged to 2 percent.
"Yes, my breasts were removed, but it was on my terms -- cancer didn't get to take them from me," said Riddle, now 45. "I'm a single mom of two teenage boys ... I'm getting to see my children grow up. Anything I went through is worth that."
But Riddle knows that the decision that was so simple for her also can be grueling and heartbreaking for many women.
So when she heard on Tuesday that Oscar-winning actress Angelina Jolie had announced her own bilateral mastectomy, she applauded the move.
"I'm not anybody that's a famous person, but with her -- it's going to get more attention," Riddle said. "If Angelina Jolie can go through with it, other women with self-esteem issues may think, 'Well, I can do this, too.'"
In an op-ed published in Tuesday's New York Times, Jolie, 37, explained in detail her decision to have a double mastectomy after she tested positive for BRCA-1 -- a defective gene that dramatically increased her chances of getting breast cancer.
Local cancer surgeons also commended Jolie's essay, saying that if a celebrity with sex-symbol status like hers can proudly recount her ordeal, it can remove the stigma for other women facing the same dilemma.
"I think it's a pretty courageous move on her part to disclose something that's very personal," said Dr. Laura Witherspoon, a breast surgeon with University Surgical Associates. "It's a devastating thing for a woman to undergo. I think it's a positive to hear about anybody who's well-known and to understand that they don't escape diseases and other ordinary problems that people have."
Local doctors also voiced a note of caution amid the celebrity buzz, noting the defect is not common and that testing may not always be necessary. The number of women who get cancer because of the genetic defect is small in comparison -- around 5 to 10 percent -- to the number of women battling breast cancer overall, Witherspoon said.
All women are at risk for breast cancer, she stressed, and not enough have regular screenings, like mammograms.
But for those with the gene defect, the risk for getting cancer multiplies five-fold, said Dr. Betsy Washburn, breast oncology surgeon with the MaryEllen Locher Breast Center at Memorial Health Care System.
"It is so high that you really must have a discussion with a breast oncologist," she said. "And really the best way of reducing your risk is removing that breast tissue."
BATTLING THE ODDS
Riddle's odyssey started when her mother's new doctor voiced concern about the family's medical history of cancer.
He recommended that her mother get a blood test to check for the genetic defect.
Insurance wouldn't cover the $3,000 test, but Riddle agreed to split the cost with her mother.
Riddle's mother tested positive for the defect -- BRCA-2. At that point, Riddle's insurance agreed to pay for her to take the test herself. She was positive, too.
Her oncologist at Erlanger then laid out her options: Regular doses of the cancer drug tamoxifen and MRI screenings. Or a mastectomy.
When she heard the last word, she didn't flinch.
"I think so many women would think 'I'm not going to look like a woman anymore,'" she said. "I get that. But I was ready to go. And I knew they had reconstructive surgery that could make it as good or better than it was."
Reconstructive techniques have come a long way, doctors say.
Jolie addressed the issue of her sexuality in her essay, saying she did "not feel any less of a woman."
"I feel empowered that I made a strong choice that in no way diminishes my femininity," she writes.
Counseling women through the entire psychological and physical aspects of the surgery is a large part of the entire treatment, Washburn said.
"It's definitely a hard time for the patient," she said. "It can take a couple of years for them to wrap their head around it."
All of the family dynamics surrounding the genetic trait can also complicate emotions, Washburn added. Parents may have guilt about what they've passed to their children. If a parent has this particular gene defect, each of their children has a 50/50 chance of having it -- both male and female.
But the knowledge of the risks can also be a release for women, Washburn said. They can begin to fight against their odds.
Some women choose not to go through with the mastectomy at all, for a variety of reasons. Riddle's mother decided not to have the surgery, saying she didn't want to have such a radical procedure at her age.
Such patients who cannot or do not want to go through with the procedure are still watched very closely, doctors say. They will typically have breast screenings -- mammograms and MRIs -- every six months.
Insurance coverage for both the tests and preventive mastectomy and reconstructive surgery can vary widely, doctors say. Riddle's full procedure was covered by her insurance.
Jolie addressed access and cost for cancer prevention in her essay, acknowledging that her movie-star level of care was not available for many.
"It has got to be a priority to ensure that more women can access gene testing and lifesaving preventive treatment, whatever their means and background, wherever they live," she said.
GENETIC TESTS ON THE RISE
Genetic tests for breast cancer have been available for more than two decades, but they have recently been growing in popularity and accessibility, local cancer surgeons say.
Memorial and Erlanger's cancer centers both have genetic counseling and evaluation specialists. Parkridge Medical Center will soon be implementing a program where patients can get genetic consults from their own homes.
Through the new program, doctor-referred programs can call a company called Informed DNA, which has genetic counselors who conduct an hour-long consult discussing family history and other factors. The evaluation of risk will then be returned to the physician, who can recommend the next step.
"What we've seen more recently, there's the genetic componant that's become a concern to patients," said Dr. Michael Howard, director of Sarah Cannon Cancer Center at Parkridge. "It's been an increased concern partially driven by media, but also by education. People have an understanding that you need to be more proactive in your approach."
Physician interest in genetic counseling has been "tremendous," said Howard. As genetic research moves forward, physicians say they hope that they can one day do away with mastectomies all together.
"What we're doing now is primitive and brutal. We're removing body organs instead of correcting the defect," Witherspoon said. "We hope that down the road -- say if one of Angelina's young children were to have a gene defect -- we will have a way to correct it."