Seeking Your Genetic Information: Pros and Cons

Expert Quote

“The reality is that there have been very few documented cases of discrimination. That doesn't mean there isn't a potential of this happening, but the fears of discrimination have been greatly overemphasized. Cancer genetics specialists are usually well informed about state and federal laws on genetic discrimination and can help provide balanced and up-to-date information on this issue.”

Sue Friedman

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Anyone wanting to learn the details of her or his genetic makeup should consider both the benefits and drawbacks of knowing such information.

Pros

Here are the advantages of seeking genetic testing if you have a family member with a known breast cancer gene mutation:

If your test result is normal, your genetic counselor can tell you with greater certainty that you have the same relatively low risk of developing breast or ovarian cancer as women in the general population. Routine screening for breast cancer (self-exams, mammograms, doctor visits) will still be important for you, as it is for all women. For ovarian cancer there are currently no widely accepted screening guidelines for women at average risk of developing the disease.

If your test result is abnormal, closely monitoring the health of your breasts and ovaries can help find a cancer in its earliest stage, when it is most treatable and curable.

In addition, if your test result is abnormal:

• You may want to consider taking a medication such as tamoxifen, which could reduce your risk of developing breast cancer. You may also want to participate in a clinical trial on breast cancer prevention to see whether other drugs may be effective.
• You may want to consider preventive (prophylactic) surgical removal of your breasts, ovaries, or both before cancer has an opportunity to form.
• If you do develop cancer, knowing you have a genetic abnormality will give you more information on which to base your treatment decisions.
• If you get genetic testing in a research setting, or if you participate in other clinical studies, you'll be contributing to research that could eventually help to prevent or cure breast or ovarian cancer.
• Finally, knowing that you carry an abnormal breast cancer gene may prompt you and your family members to make lifestyle and family planning changes or decisions to help improve your odds.

Cons

Genetic testing has limitations and possible drawbacks, including:

• It's not yet clear exactly what you should or shouldn't do once you get your genetic test results. We still don't know the most effective ways to prevent breast cancer, although taking tamoxifen could lower your risk of developing the disease.
• Removing the breasts and ovaries to lower cancer risk (called prophylactic surgery) does not get rid of every breast- and ovary-related cell. So even though it can lower your risk a lot, it still does not entirely eliminate the risk. Even after such surgery, a woman with an abnormal breast cancer gene must be monitored regularly. These diseases may show up in nearby tissues and organs.
• Normal test results don't guarantee healthy genes. In some families, many women have had breast cancer, yet they all test normal for the known breast cancer mutations. These families may have an inherited form of breast cancer caused by an abnormality or other gene that simply hasn't been identified yet. A woman from such a family must be followed closely.

  For more information on genetic testing, counseling, and support, visit the FORCE (Facing Our Risk of Cancer Empowered) web site.

• Close monitoring does not always succeed in detecting breast cancer early. Some women end up being diagnosed with later-stage disease despite the best surveillance techniques.
• For some women, an abnormal test result can trigger anxiety, depression, or anger. Even though the result doesn't mean that a woman will definitely get breast cancer, many women with an abnormal gene assume they will. If you think knowing the information may be too hard for you emotionally, consider not having genetic testing until more is known about how to beat the disease.
• If you learn that you've passed on an abnormal gene to your children, you may feel guilty and worried. (Yet such knowledge may also prepare you for helping your children cope with their genetic information.)
• You could face discrimination—in getting insurance coverage or employment—based on your genetic information. Advances in breast cancer genetic testing have out paced legal protections for those identified through such testing. Although basic legislation exists in the United States to protect most people from such discrimination, privacy remains a serious issue. Carelessness and leaks could reveal your test results to others. So far, however, no cases of discrimination related to genetic information are known to have occurred.
• Genetic testing may not answer all your questions. In families with an abnormal breast cancer gene, other factors that are not yet understood may contribute to high risk.