Many women read Tuesday's New York Times op-ed by Angelina Jolie, where the actress and filmmaker revealed her decision to have her fallopian tubes and ovaries removed due to her BRCA1 gene mutation, with something more than shock; we read it with fear. Jolie, who also underwent a preventative double mastectomy in 2013, has never had cancer (though results from a recent blood test caused Jolie to fear that she might have early stage ovarian cancer, prompting her most recent surgery). Rather, she has had two preventative surgeries because of her family history (Jolie's mother, grandmother, and aunt all died of cancer) and because she carries a mutation in the BRCA1 gene, which is known to increase a woman's risk of breast cancer to 85 percent and risk of ovarian cancer to 45 percent (the average American woman's risk for developing breast cancer is 12.4 percent).
Less than one percent of women have the BRCA1 or BRCA 2 gene mutation (though certain groups, like Ashkenazi Jews, have higher incidences of BRCA mutations than the population at large). And yet, the thought that you might have it and not know can be scary. Should all women be tested for the BRCA1 and BRCA 2 genetic mutation, to become more aware of their risk of breast and ovarian cancer? If not, how should a woman decide if BRCA1 testing is right for her? How do you get tested for BRCA1 and BRCA2 mutations? And if you test positive, does that mean you'll definitely get cancer? Read on, and learn the facts about when and if you should get tested, and what your test results mean for your future.
1. What Are The BRCA1 And BRCA 2 Gene Mutations?
Everyone has two BRCA1 and BRCA2 genes each. When healthy, these genes help protect us from developing cancer; however, mutations in the genes, which are passed along by our parents, can increase an individual's risk of developing cancer, especially breast and ovarian cancer. Men as well as women who have mutated BRCA1 and BRCA2 genes are at greater risk for developing cancer; men with the mutation may develop breast cancer, and are also at greater risk for developing prostate cancer.
However, BRCA1 and BRCA2 mutations are only responsible for around five percent of breast cancer cases and 10-15 percent of ovarian cancer cases, so they are far from the only cause of these cancers.
2. How Do I Know If I Should Get Tested For These Mutations?
Current guidelines from organizations like the American Cancer Society suggest that a woman should be tested for the BRCA1 and BRCA2 mutation only if she has a family history of breast or ovarian cancer, or if she currently has early signs of developing other cancers.
However, Mary-Claire King, the scientist who discovered the BRCA1 gene, believes that all American women over age 30 should be screened for BRCA1; she told New Scientist that "[m]ost cancer isn't inherited, but there is a straightforward genetic test; if a woman is concerned, she can find out. I would like to see women in their 30s offered genetic testing more routinely at a time when something can be done about it."
King's stance isn't common — a fellow scientist called her cancer screening proposal "provocative" — and many feel that testing all women will make many needlessly fearful, especially since our current health care infrastructure won't allow all women who are tested to also receive crucial long-term counseling. But King told the New York Times that she didn't understand “[w]hy should women be protected from information that will empower them and allow them to control their lives? We don’t need that kind of protection.”
3. How Do I Get Tested For BRCA1 And BRCA2 Mutations?
The National Cancer Institute recommends that anyone interested in testing for a BRCA1 or BRCA2 mutation first meet with a genetic counselor. A genetic counselor is a medical professional with a specialized Master's degree in genetic counseling, and training in science, counseling, and genetic risk assessment. Your family doctor can provide you with a referral to a genetic counselor who works with their practice; your health insurance may also be able to refer you to a counselor who is covered under your plan. You can also find a genetic counselor through the National Society of Genetic Counselors.
A genetic counselor can help you understand what a positive or negative result might mean in light of your specific family history, and what your personal health risks are. Sometimes, a genetic counselor will perform the BRCA test themselves; in other cases, they will talk you through the details of requesting the test from your general practitioner or other doctor.
4. What Happens During The Test?
The test itself is just a standard blood test, conducted at your doctor's office. After the blood is taken, it will be sent to a lab for analysis; the results will typically be available in two to four weeks.
Doctors at Johns Hopkins and many other medical institutions recommend that any woman who believes she might be at risk also have a relative who has had cancer test for the genetic mutation first. This will help doctors better understand and analyze your genetic material.
5. How Much Does Getting Tested Cost?
BRCA1 and BRCA2 testing can cost between $300 and $5,000; but your insurance may cover some or all of the cost.
6. Are There Any Risks In Getting Tested?
There are no health risks in the testing process; the blood test used is the same as the one you'd experience during an annual physical. 2009's Genetic Information Nondiscrimination Act legally prevents your employer or health insurance provider from treating you differently based on your genetic status, which means that you can't be fired from your job or denied health insurance based on your test results.
7. What Should I Do If I Test Positive?
Testing positive for a BRCA1 or BRCA2 mutation does not mean that you will absolutely develop breast or ovarian cancer, just as testing negative for them does not mean that you will never develop breast or ovarian cancer. Testing positive is the first step in a program that includes counseling, consulting with doctors, and learning about your options.
8. Does Testing Positive Mean That I Will Have To Have A Mastectomy Or Hysterectomy?
No; preventative surgery is just one of many options that women who test positive for the mutation can consider. You won't have to do anything based on your test results; the results are just a jumping off point for discussions with your doctors, counselors, oncologists, and others about what decisions are best for you.
Non-surgical options can include getting regular MRIs of your breast tissue to monitor for any growths or tumors; taking oral contraceptives to reduce odds of ovarian cancer; or taking selective estrogen receptor modulators, which can lower the risk of estrogen receptor–positive inherited breast cancer. Remember, Angelina Jolie herself didn't have to make the decision to have her surgery all alone; she had support and feedback from medical professionals to help her make her decision, and so will you.
9. Does Testing Positive Mean That I Have Lower Odds For Survival?
Not at all; testing positive just indicates that you are more likely to develop the cancers, but not that they will become more threatening if you do develop them. Testing positive for BRCA1 or BRCA2 mutations does not lower your odds for cancer survival; rather, having that knowledge will allow you to make smarter, better informed decisions about your health and future.
Don't think of positive BRCA1 and BRCA2 mutation results as a death sentence; think of them as a life raft.