Ms. Jolie did the right thing for her situation. Women need to know what their genetic history is and take appropriate measures. —Dr. Brett Parkinson
SALT LAKE CITY — A Hollywood star's recent announcement of a pre-emptive double mastectomy is working wonders to raise awareness of breast cancer screening, but local physicians say not everyone should run out and be tested for the mutated gene that might lead to such a dramatic decision.
"The whole point of doing the genetic testing is to stratify your risk level," said Megan Judkins, a certified genetic counselor at St. Mark's Hospital in Salt Lake City. "After you know the category of risk you face, it helps you determine the method of medical management to take."
Movie star and director Angelina Jolie made her decision to remove both breasts public Tuesday in a column for the New York Times. She said her reason for doing so was to help women realize they have options.
"Life comes with many challenges," Jolie wrote. "The ones that should not scare us are the ones we can take on and take control of."
To the same tune, Dr. Brett Parkinson said Jolie's proactive decision "empowers women. It lets women know they can make decisions for their own health."
As imaging director of breast services at Intermountain Medical Center, Parkinson said another option for Jolie would have been annual mammography screenings, supplemented with MRIs.
"It does not make sense for women of average risk to (have a double mastectomy)," he said. "Even women with breast cancer shouldn't necessarily have a mastectomy."
Lumpectomies, coupled with radiation and other treatments, he said, can sometimes be just as beneficial in delaying or removing additional cancer risks.
Parkinson said mastectomy is not a complicated surgical procedure, but it carries the risk of surgery and there is a recovery time.
Rebecca Castleton, 34, has no family history of breast cancer but was diagnosed with breast cancer and carries the mutated tumor suppressor gene, BRCA1, which increases the risk of it returning.
After trying various methods of treatment, Castleton decided to have one of her breasts removed earlier this year and said the procedure, although emotionally and physically taxing, has given her peace of mind.
“Always not knowing if it would come back was really hard for me,” she said, adding that much like Jolie, she had to do what was best for her individual situation.
“I’m a good person regardless of cancer, and this is my choice,” Castleton said. “I have to be confident in what I decide. There’s not just one way. There are so many options.”
Judkins said she's already received several emails portraying enhanced concern among patients following Tuesday’s high-profile announcement. Jolie, she said, did the right thing being tested for BRCA1 and BRCA2, as her own mother died at a relatively young age (56) from ovarian cancer, according to the Times column.
A family history of breast or ovarian cancer, Judkins said, is a big indicator of whether it is likely to strike in future generations. Testing for the gene mutation that can lead to cancer is relatively simple, requiring only a saliva or blood sample.
The only such commercially available genetic test is provided by Salt Lake City-based Myriad Genetics at a cost of about $4,000.
Judkins said if breast cancer is evident in a family history, the test is typically covered by insurance and turnaround time for the highly scientific results is generally about two weeks.
Because of her mother's plight and being found to be BRCA1-positive, Jolie's risk of breast cancer turned out to be 87 percent, and it was determined to be 50 percent for ovarian cancer. Jolie wrote that having the elective double mastectomy lowered her breast cancer risk to less than 5 percent.
"Everyone has these genes in their body," Judkins said. "It is one of our body's lines of defense against cancer, and if those genes don't work properly, it increases the risk of getting this type of cancer."
Regardless, 70 percent of all breast cancer is sporadic and not linked to any genetic factor. One in eight women, of average risk, Parkinson said, can expect a breast cancer diagnosis in their lifetime. About 5 percent to 10 percent of cases result from existence of the mutated BRCA genes.
“Yes it is rare, but if you have it, it is a very important piece of information to have,” he said, adding that just 0.25 percent of women in the general population carry the gene mutation. “Most breast cancers are diagnosed in women who do not have the gene.”
Women who carry the gene mutation, Parkinson said, also have to decide what to do with their ovaries, which can prove to be deadly in the case of ovarian cancer, since it is most often diagnosed too late. He recommends that all women be screened annually after age 40.
"Ms. Jolie did the right thing for her situation," he said. "Women need to know what their genetic history is and take appropriate measures."
Genetic testing isn't recommended to curb the curiosity of the general population, Judkins said.
"The chances of someone with no family history of breast cancer coming back positive on the testing is incredibly low," she said, adding that anyone can visit a genetic counselor or talk to their doctor for more information. "Realistically, we need clues in the family history to tell whether genetic testing is appropriate."
A carefully plotted pedigree can help with managing a person's risk of cancer, however.
"I want to encourage every woman, especially if you have a family history of breast or ovarian cancer, to seek out the information and medical experts who can help you through this aspect of your life, and to make your own informed choices," Jolie wrote.
She said making breast cancer a priority can help ensure more women have access to screening and treatment, helping them get out from under the "shadow of cancer," her column states.