Genetic Testing for Breast Cancer

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If you have immediate relatives who've been diagnosed with breast or ovarian cancer, you may carry a genetic mutation that increases your risk of those diseases. Almost 10 percent of all breast cancers diagnosed in the U.S. are related to genetic mutations.

Some genetic mutations are not inherited but are somatic, meaning that your genes change during your lifetime and don't get repaired. People who are in these categories do have some choices about preventing and treating breast cancer, but they need to know for sure if they have those genetic mutations.

Genetic Testing

Women and men who have mutated versions of the BRCA1 and BRCA2 genes are at higher than average risk of developing breast cancer. These genes are also associated with a greater risk of ovarian, pancreatic, and prostate cancers.

As genetic research progresses, scientists are finding other genes that indicate risk for breast and other cancers, as well as benign conditions. The test is done on a blood sample, but since the results can be life-changing, genetic counseling is recommended as well.

Decision Making

People with a family history of breast cancer or ovarian cancer may carry the mutated BRCA gene. Men and women who are concerned about their risk of breast cancer may want to visit a genetic counselor to discuss their family health history, as well as other factors, to determine if a genetic test would be helpful.

If you've already been diagnosed with breast cancer, a blood sample can be tested, so your doctor can design the most effective, timely, and appropriate treatment to kill your cancer and prevent a recurrence. High-risk groups include people with:

  • Ashkenazi Jewish ancestry (Eastern and Central European)
  • One or more BRCA positive relatives, female or male
  • Breast cancer in two or more close relatives (immediate family)
  • Family members diagnosed with breast cancer before age 50
  • Immediate family member with cancer in both breasts
  • Several family cases of ovarian cancer

There are also certain reasons to have a genetic test, such as to:

  • Determine if you have the mutated BRCA genes
  • Evaluate choices for prevention
  • Customize treatment options
  • Avoid over- or under-treatment
  • Reduce side effects of treatment
  • Get proper treatment for preventing a recurrence

If you do develop breast cancer, knowing your genetic status may influence your treatment. For example, the BRCA1 mutation means you're more likely to develop triple-negative breast cancer, which is a type that doesn't respond to hormone therapy or certain types of cancer drugs. However, it's more likely than some types of cancer to respond well to chemotherapy.

Covering the Cost

Full sequencing of both BRCA genes, which checks for any mutation that could occur, will cost about $2,400. Testing for just the three most common BRCA mutations can cost about $650.

Medicaid does not cover the cost of the test. Depending on what company you are insured with, your health insurance might or might not cover it.

At-home genetic tests cost between $295 and $1,200.

Results and Follow-Up

If you decide to go ahead with a genetic test, your doctor can order it for you. You'll then give a blood or tissue sample which will be sent to a special lab for testing. Results will be returned in four or five weeks and you'll likely meet with a genetic counselor to review and discuss your results.

You will also get a written summary of your test results. Make sure you understand your results and options for prevention or treatment.

You may need no other follow-up than to remain vigilant and be sure to have regular mammograms and perform breast self-exams to increase the likelihood of early detection.

DIY Testing

You can order an at-home genetic test kit, but unlike a drugstore pregnancy test, you won't get results within minutes. Once the kit arrives, you will need to head to a clinic for a blood draw and then your sample will be sent to the lab, just as it would be with a test ordered by your doctor.

Results are typically back in about a month and reported to you over the phone as well as in writing. The results should be as valid as those you get from a genetic counselor, but there will be no emotional support and no medical guidance about dealing with the results.

Taking Action

Testing positive for BRCA1 or BRCA2 can be a call for action on your part. You may want to carefully consider your prevention and treatment options as well as your other risk factors—age, race, environment, diet, overall health—before embarking on surgery or hormonal drugs.

Testing negative is no absolute guarantee that you will never develop breast cancer since other factors may increase your risk, including:


Preventative Surgery

Some women who test positive choose to have a preventative double mastectomy to lower their risk of developing breast cancer. Surgical removal of both breasts seems extreme to some, but to others, it represents peace of mind.

Surgical breast removal decreases the risk of breast cancer by about 90 percent. Preventative removal of your ovaries and fallopian tubes can further reduce your breast cancer risk as long as you're not menopausal. This surgery is called an oophorectomy.

Surgery comes with its own risks and costs, so this is not a decision to enter into lightly. Discuss your options with your doctor and your loved ones and make sure you understand all of your options and their associated risks while trying to decide which choice is right for you.

However, while other people may have strong opinions about what you should do, it's your body and your health. You're the one who has to be comfortable with whatever choice you make.

Hormonal Drugs

Four different hormonal therapy medicines have been shown to reduce the risk of hormone-receptor-positive breast cancer in high-risk women. Two are selective estrogen receptor modulators (SERMs) and two are aromatase inhibitors. They are:

These drugs all have side effects and risks associated with them, so talk to your doctor about which one may be best for you and carefully weigh the risks against the benefits.

It's important to note that these drugs do not lower your risk of developing breast cancer that is hormone-receptor-negative.

Genetic Discrimination

In the U.S., the Federal Health Insurance Portability and Accountability Act (HIPAA) bans discrimination on the basis of genes. You cannot legally lose or be denied health insurance because you have a genetic predisposition for breast cancer.

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