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Friday August 1st 2014

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Learning from Angelina

Actress Ignites Dialog on Genetic Cancer Testing
by Jeremy Morrison

This spring, actress Angelina Jolie underwent a double mastectomy. She didn’t have breast cancer. But there was a good chance she would one day.

“Life comes with many challenges,” Jolie wrote in a mid-May op-ed piece for The New York Times. “The ones that should not scare us are the ones we can take on and take  control of.”

Jolie made the decision to have her breasts removed because she tested positive for the BRCA1 gene. Doctors were estimating the actress had an 87-percent risk of breast cancer and a 50-percent risk of ovarian cancer.

“Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could,” Jolie wrote in the op-ed that announced her decision.

Genetic testing for harmful mutations in the BRCA genes isn’t exactly new. But it is getting increased exposure in the wake of Jolie’s revelation.

“It’s been here, it’s not new,” explained Pat Liebenguth, a registered nurse with the Baptist Cancer Institute. “She just kind of put it out in the spotlight.”

Liebenguth recalls Former First Lady Betty Ford’s impact on breast cancer awareness in the 1970s—“before that you didn’t talk about breast cancer at all”—and sees Jolie’s recent disclosure as having a similar effect when it comes to genetic testing for the BRCA1 and BRCA2 genes.

“With Angelina Jolie doing this, it will help let people know it’s available,” Liebenguth said, noting that she has seen a recent uptick in interest. “I’ve had about five or six so far, since she’s done it.”

What is BRCA?

The BRCA1 and BRCA2 genes were discovered in the mid-1990s. They belong to a class of genes known as tumor suppressors. The BRCA designation is derived from the words BReast CAncer.

In normal cells, the genes help prevent uncontrolled cell growth and ensure the stability of the cell’s genetic material. They help repair damaged DNA.

However, harmful mutations in the BRCA1 and BRCA2 genes have been linked to the development of hereditary breast and ovarian cancer. In addition, harmful BRCA1 mutations may also increase the chance of developing cervical, uterine, pancreatic and colon cancer, while harmful BRCA2 mutations may also increase the risk of pancreatic and stomach cancer, gallbladder and bile duct cancer, as well as melanoma. For men, harmful BRCA mutations indicate an increased risk of pancreatic, testicular and early-onset prostate cancer, as well as breast cancer.

According to estimates from the National Cancer Institute (NCI), about 12 percent of women in the general population will develop breast cancer at some point over the course of their life. That number goes up dramatically—to about 60 percent—for women who have inherited a harmful mutation in BRCA1 or BRCA2 genes.

The NCI estimates that 1.4 percent of women in the general population will be diagnosed with ovarian cancer. For women with harmful BRCA mutations, that number ranges from 15 to 40 percent.

“You can see there’s a big difference there,” noted Liebenguth.

The Maybe Test

To learn if they have the harmful BRCA1 and BRCA2 mutations—and thus a greater risk of certain kinds of cancers—individuals can elect to undergo genetic testing. Baptist has been offering the testing service since 2005, and has since been joined by a number of other health providers.

Offering a peek at the odds, the BRCA test allows for the option of proactive action. In Jolie’s case, she decided to better her odds with a double mastectomy.

“Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness,” the actress wrote in her op-ed. “But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.”

Taking such drastic action betters the odds significantly. Jolie’s doctors estimate that her surgery dropped her risk of breast cancer to less than 5 percent.

“If we can prevent someone from having cancer,” Liebenguth said, “that’s worth its weight in gold.”

But taking such action does not insulate an individual from developing cancer. While addressing such a revelation head-on betters the odds, there are some important points to note: not everyone with a harmful BRCA mutation will develop cancer and the absence of such a harmful mutation does not mean cancer will not develop.

The Test, and Then What

Primarily, women with a history of breast or ovarian cancer in their family should consider getting tested for the harmful BRCA1 and BRCA2 mutations.

The tests are conducted either by swabbing saliva from the mouth or through a blood test. They’re pricey—running in the thousands—but many insurance policies cover them.

If an individual tests positive for harmful BRCA mutations, they must then make a decision:  Address the odds, or simply choose to keep a closer watch over their health.

Liebenguth said not everyone chooses as radical a route as Jolie, but instead arm themselves with knowledge and remain vigilant. The nurse suggests more frequent tests for cancer if someone learns they are at an increased risk.

“They could do twice a year, instead of once a year,” Liebenguth said. “If you get those more frequently, you’re going to find something sooner.”

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Dangerous Information

The National Cancer Institute (NCI) outlines a number of risks associated with genetic testing for harmful mutations in the BRCA1 and BRCA2 genes.

In addition to leading to possibly ineffective surgery for individuals acting upon a positive test, or “survivor guilt” for those testing negative, the NCI sites possible social ramifications:  “Test results can also affect personal choices, such as marriage and childbearing.”

There are also concerns about the information revealed in genetic tests being placed in an individual’s medical records. While federal law prohibits discrimination based on a person’s genetic information in relation to health insurance and employment, it does not cover life insurance, disability insurance and long-term care insurance.

“The insurance company may take genetic test results into account when making decisions about coverage,” warns the NCI.