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Genetic Testing: What You Need to Know

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What if genetic testing shows an increased risk of getting cancer?

If the test result is positive or inconclusive, managing the risk should become a priority. Early detection testing, using medicines to reduce risk (this is called chemoprevention), and preventive (or prophylactic) surgery are some of the ways to manage increased cancer risk.

Cancer detection tests

Early detection tests may be done more often, or special tests may be needed if you have a positive test result. For instance, a woman with a genetic mutation that raises her risk of breast cancer would need breast MRI scans along with her mammograms to look for early signs of the cancer.

Chemoprevention

Chemoprevention is the use of medicines to prevent cells from developing into certain types of cancer. Several medicines are being studied and used to help prevent cancer in patients at high risk for certain cancers. For example, tamoxifen and raloxifene are used to reduce breast cancer risk. Each person’s risk and medical situation must be carefully considered so that any harmful effects of the drugs do not outweigh the benefits. As we learn more about genetic diseases, we should find out more about using medicines to prevent cancer.

Prophylactic (preventive) surgery

Prophylactic (preventive) surgery is another option in some cases. For example, some women at high risk for getting ovarian cancer may decide to have their ovaries removed once they’ve had their children.

Your doctor may recommend one or more of these approaches, but it is important to understand how much they may affect your risk before you decide on a course of action. You will also want to be sure you understand the risks and downsides to your plan.

Changes in lifestyle factors

You might want to consider changing lifestyle factors that could affect your risk, such as limiting alcohol intake and exercising to lower your risk of colon or breast cancer. In some cases the effect on risk may be too small to offset the mutation, but you may still want to ask your doctor what you can do.

If you have a gene mutation that raises your risk, there may be other factors to think about, too, such as whether to tell other family members who might also be at increased risk. Telling them might help them decide if they should get tested or adopt some of the approaches to try to lower their risk.

On the other hand, some test results may cause more anxiety than anything else, and some family members may not want to know their own risk. This is especially true if there’s not much they can do with the results. You may want to speak with family members before you get tested to find out if they want to know your results.


Last Medical Review: 12/06/2011
Last Revised: 12/06/2011

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