Next Avenue Logo
Advertisement

Should You Request the Genetic Test That Angelina Jolie Opted For?

The actress's decision highlights the importance of knowing your family medical history

By Gary Drevitch

Angelina Jolie's announcement that she recently had a preventive double mastectomy, after a genetic test indicated she had a high risk of developing breast cancer, has brought new attention to such testing. The actress is being praised for speaking up and many experts hope she can be a role model for other women in high-risk groups.

"Her decision to make her choice public is bold and brave and admirable," Rebecca Mead wrote in The New Yorker. "It is what celebrity is for."

(MORE: The Pros and Cons of Genetic Testing)

In an op-ed column in Tuesday's The New York Times, Jolie said she opted for the double mastectomy and reconstructive surgery after learning there was an 87 percent chance she would develop breast cancer and a 50 percent chance she'd develop ovarian cancer. "Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could," she wrote. "I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex."

"I hope that other women can benefit from my experience," Jolie wrote. "I wanted to write this to tell other women that the decision to have a mastectomy was not easy. But it is one I am very happy that I made. My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children that they don’t need to fear they will lose me to breast cancer."

Seeking Mutations

Jolie was found to have a mutation in the gene known as BRCA1. Mutations in that gene, and another known as BRCA2, are estimated to be the cause of 5 to 10 percent of breast cancers and 10 to 15 percent of ovarian cancers among white women in the United States. (Reliable statistics are not available for the mutations' prevalence in other groups.)
 
Various forms of the mutations carry differing risks of developing cancer. On average, affected women have about a 65 percent chance of developing breast cancer versus about 12 percent for those in the general population. The ovarian cancer risk for the general population is less than 2 percent.

"These are genes that every human being has, but not everyone has mutations in them," says Dr. David Fishman, a professor in the division of gynecologic oncology at the Mount Sinai Medical Center in New York. About 1 in 1,000 women carry a BRCA mutation.
 
The blood test for BRCA1 and BRCA2 mutations was introduced by Myriad Genetics in 1996. Since then, about 1 million women have been tested, but about 250,000 more women will have the screening this year alone, a number that may rise even higher in the wake of Jolie's announcement.

Prime candidates for testing are women who receive a diagnosis of breast cancer before age 50 or those who have a family history of breast and ovarian cancer. Other potentially high-risk groups are women with ovarian cancer and Jewish women of Ashkenazi, or Eastern European, descent.

(MORE: Cruising With Breast Cancer 'Thrivers')

The test can be expensive. For people whose insurance does not cover it, the cost could be as high as $3,000, although some states offer coverage to women who meet certain criteria, such as having two "first-degree" relatives (mother, sister or daughter) with breast cancer or two "second-degree" relatives (grandmother or aunt) with ovarian cancer. Federal law requires insurers to cover testing for women in certain high-risk groups.

BRCA1 and BRCA2 are not the only genes in which mutations appear to elevate a woman's risk of breast or ovarian cancer. As many as 21 have been identified so far, Fishman says.
 
The first critical step for anyone concerned about an elevated genetic risk, he says, is to have a formal family medical history evaluation by a board-certified geneticist. "The most important thing is to know your family history," Fishman says.
 
Far less costly than genetic testing, this assessment can help determine if you should consider BRCA1 and BRCA2 testing or other genetic evaluations for conditions like colon cancer. "You want to make sure you're being tested for appropriate mutations," Fishman says. Counseling can also help you determine whether other family members should look into testing as well.
 
"Everybody at risk should take advantage of genetic counseling," Fishman says, adding, "BRCA mutations are not unique to women. Men can develop breast cancer as well. Get an evaluation and then you'll go for the right testing. It's the best way I can think of to optimize health care."
 
Limited Options for Women at Risk

Once a woman is found to have a BRCA1 or BRCA2 mutation, her risk is calculated. Jolie appears to be in one of the highest-risk groups. For women like her facing an elevated breast and ovarian cancer risk, Fishman says, there are two major options: preventive surgery or intensive monitoring.

Advertisement

Jolie's choice illustrates the vexing decisions facing all patients in an age when our ability to determine our risk of disease has outpaced our ability to treat the conditions. For example, there is no drug to counteract the genetic mutation that increases one's risk of breast and ovarian cancer.

"If you want to prevent the development of cancer and can remove a non-life-threatening organ, that decision allows you to effectively eliminate 95 to 99 percent of the risk of developing the disease," Fishman says. But preventive surgery is still a drastic, invasive step.

Ovary removal in premenopausal women, Fishman says, brings on early menopause, which "affects everything to do with a woman's health, from the hair on your head to the skin on the bottom of your feet. But it is very effective in preventing death from ovarian cancer."

Some women with BRCA mutations opt to avoid surgery and instead choose close monitoring with mammograms and MRI scans once a year (typically, one or the other every six months), plus monthly self-examinations. Those tests do not prevent breast cancer, but do improve the odds that it will be found early.
 
However, there is presently no test or procedure that can reliably detect ovarian cancer in its earliest stage. "The most effective thing we can offer women today to prevent ovarian cancer is surgical removal of the ovaries," Fishman says.
 
Even in high-risk patients, breast cancer is most often detected in stage 1, in which about 90 percent of women are cured. Detection of ovarian cancer, however, most often occurs when the disease is at an advanced stage; survival rates are far lower.

(MORE: Why Predictive Health Should Be the Future of Medicine)

Jolie, 37, said she has delayed a decision regarding surgical removal of her ovaries, in part because ovarian cancer tends not to develop until a woman is in her late 40s or early 50s, even among those at high risk. Jolie’s mother, Marcheline Bertrand, died of the disease at age 56.

"I feel empowered that I made a strong choice that in no way diminishes my femininity," Jolie wrote. "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."

"I choose not to keep my story private," she wrote, "because there are many women who do not know that they might be living under the shadow of cancer. It is my hope that they, too, will be able to get gene tested, and that if they have a high risk they, too, will know that they have strong options."

Gary Drevitch was senior Web editor for Next Avenue's Caregiving and Health channels. Read More
Advertisement
Next Avenue LogoMeeting the needs and unleashing the potential of older Americans through media
©2024 Next AvenuePrivacy PolicyTerms of Use
A nonprofit journalism website produced by:
TPT Logo