What should I know about genetic counseling and testing for inherited genetic mutations?
ACS Answer
Genetic testing is done to see if a person has inherited a certain gene change (mutation) known to increase the risk for a specific condition or disease (such as cancer), or to confirm a suspected mutation in an individual or family. These inherited changes are a factor in the development of 5%-10% of cancers. Genetic testing is not recommended for everyone, but it is useful for people with specific types of family disease histories.
If you are concerned about your family history; about family members being at risk for cancer; about your personal cancer history; about your being at risk for other cancers; or about other cancer risk factors, you may want to consider genetic counseling and testing. Doctors will sometimes recommend patients undergo genetic testing if there is a strong family history of a disease. If you have more than two first-degree relatives (mother, father, sister, brother) with cancer, family members who developed cancer at a young age, relatives with rare cancers, or a known genetic mutation in the family, you might consider genetic counseling and testing.
Genetic counseling
It is important for those people considering being tested to meet with specially trained health counselors who can help them weigh the benefits and risks of testing. Once testing is done, these counselors are available to help the patient and the family adjust to the results, and help make decisions about appropriate prevention or treatment measures. Under the best of circumstances, a positive gene test result provides an excellent opportunity to receive counseling on ways to reduce risk. Some of the options for people with positive test results include starting screening at a younger age, getting screened more often, or having certain screening tests not recommended for people at average risk. They may also benefit from certain medications, lifestyle changes, or even preventive surgery.
You may have questions about whether genetic testing is appropriate for you or your family members. Please discuss your questions with your doctor and health care team.
What to do
- Ask about the benefits and risks of predictive gene testing for you and your family.
- Ask about the effect of test results on your ability to keep and get life, disability, and health insurance.
- Ask about the effect of test results on your current or future employment.
- Ask about the privacy of your genetic testing results.
- Ask about medicines, surgery, or other treatments that may lower cancer risks among those with positive genetic test results.
Do not
- Agree to gene testing until all your questions have been answered to your satisfaction
- Agree to gene testing until you have met and talked with a professional genetic counselor
- Agree to gene testing until you and your family have weighed the benefits and risks
Related Resources
Get more information about genetic testing and privacy.
You may also find helpful information on these Web sites:
The National Cancer Institute
The Genetic Alliance
GeneTests.org
Find books that cover this and other cancer topics at the American Cancer Society bookstore.
Recommended Consultation
You should consider discussing this topic with your doctor or health care team.
