Genetic Testing for Breast Cancer

In This Article

If you have immediate relatives that have been diagnosed with breast or ovarian cancer, you may carry a genetic mutation that increases your risk of those diseases. A little less than 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 the 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 more effective, timely, and appropriate treatment to kill your cancer and prevent recurrence. High-risk groups include:

  • 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
  • Proper treatment to prevent recurrence

Covering the Cost

Depending on what company you are insured with, your health insurance might or might not cover the test. Full sequencing of both BRCA genes which checks for any mutation that could occur will cost about $2,400. At-home genetic tests cost between $295 to $1,200. Or you could get tested for the three most common BRCA mutations which can cost about $650. Medicaid does not cover the cost of the test.

Results and Follow-Up

If you decide to go ahead with a genetic test, you will 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 should 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 breast self-exams.

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, chemotherapy, or hormonal drugs.

On the other hand, testing negative is no absolute guarantee that you will never develop breast cancer since other factors like alcohol use, smoking, sedentary lifestyle, age, menopausal status, or other unidentified genetic risk factors may increase your risk.

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 your sample will be sent to the lab.

Results will be back in about a month, reported to you over the phone as well as in writing. The results will 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.

Genetic Discrimination

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

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Article Sources
  • Federal Trade Commission. Facts for Consumers. At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription. July 2006.
  • National Cancer Institute. Bench Marks, Vol. 6, Issue 3, May 23, 2006. Cancer Diagnostics: Informing the Development of Tailored Cancer Therapy.