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Genetic testing can be used to learn about your risk of developing cancer and to find out if family members might be at risk. But there are many things to think about before you do it. If you have any factors that suggest you might benefit from genetic testing (such as certain cancers or patterns of cancer in your family), talk with your health care provider and plan to meet with a genetic counselor so you know what to expect.
Here are some of the things you should discuss and think about before testing.
Whether genetic testing would be worthwhile for you depends on what you hope to learn and what the test might be able to show. The obvious benefit of genetic testing is the chance to better understand your risk for a certain disease, such as cancer. Testing is not perfect, but it can often help you make decisions about your health.
For families who might be at risk, a negative result on a genetic test (that is, not finding an inherited gene mutation) may help lessen anxiety. In the same way, a positive result (finding an inherited gene mutation) might help you make important decisions about your future, including things you can do that might help lower your risk. If you test positive for an inherited gene change, your health care provider might recommend that you:
If you do develop cancer, finding it early (when the cancer is small) often means that treatment is more likely to be successful.
Genetic testing can only tell you if you have a specific gene variant or mutation, not if you will get cancer. So, the test can tell what might happen, but it cannot tell what will happen. A positive test result does not always mean you will get the disease. And a negative result does not mean you have no risk of getting the cancer. Cancer risk can also change over time due to lifestyle choices, exposure to cancer-causing agents, and getting older.
This is why genetic counseling before testing is so important – to help ensure you understand if and how the results of genetic testing might help you.
As with many medical tests, genetic tests are not perfect, and there's also always the chance that different tests might provide different results. This is not common, as many steps are taken to prevent this, but at this time genetic testing is not tightly regulated, and different labs may have different ways of looking for certain gene changes.
Sometimes the tests themselves might not give clear answers. For example, you may be found to have a certain gene variant, but it might not be clear if this particular variant actually raises your risk (or, if it does, by how much). Researchers are always learning more about the results of genetic testing and what they might mean, but at this time there are still many unanswered questions.
Some genetic test manufacturers advertise and promote their tests to doctors and to the public. Sometimes they can make the test sound much more helpful and certain than it’s been proven to be. This can be harmful because decisions about testing may then be made based on incomplete information, or even on the basis of misleading or wrong information. A lot of tests don’t give the answers they seem to promise. Reputable genetics counselors can help you know what to expect from your test results.
Many people are uneasy even before they get their test results. They may think about how the result might affect them and their families. They may worry about how to talk about and manage the information.
Learning that you or a loved one might have or develop a serious disease like cancer can be scary. It can be even more upsetting if family members have already died of the disease in question. Having a gene or passing the gene on to children can also lead to feelings of guilt or anger.
If you’re tested and found to have a specific gene variant or mutation, it might help your family members decide if they want to be tested also. This might help them learn more about their own risk, and if there are things they can do to lower it.
If it turns out that the gene variant or mutation does not run in your family, testing might offer peace of mind for family members.
Sometimes, not all family members want to know if they might be at increased risk, especially if there isn’t much they can do about it. Testing any family member might lead to anxiety and other concerns in other family members.
Privacy may become an issue when many family members could be affected by a single positive genetic test result. More family members may need to be tested. Sometimes family secrets, such as paternity, adoptions, or other difficult issues may be discovered because of a genetic test result.
If you’re adopted, estranged from your family, or have family members with cancer who have died, you may not have access to your family’s medical history. If this is the case, you’ll want to be upfront with your health care team. Having an unknown family history is not the same as having no family history of cancer.
If you’re adopted and the adoption was closed, check to see if your state has laws that allow you to get anonymous medical records from your biological family. If you’re estranged from your family, consider contacting them to ask for details about your family history. Writing a letter or working with your doctor or a mediator to make the request on your behalf may help you obtain the information.
While having a family history of cancer can impact your personal cancer risk, it’s only part of the picture. Most cancers develop as a result of tobacco or alcohol use, unhealthy diet, lack of physical activity, excess body weight, or exposure to chemicals, infections, and radiation (including UV rays). Based on these factors and your overall health, your doctor will evaluate your risk and work with you to create a plan. For some people, but not all, this may include genetic testing.
In some cases, more medical tests or procedures might have to be done as a result of genetic testing. For example, if the test finds a gene variant or mutation that increases your risk for colorectal cancer, more tests like colonoscopy may be recommended.
This can be a good thing, if these other tests can help keep you free of cancer or if they find it early when it’s to treat. But the tests can have downsides as well, such as the time and cost involved, as well as possible risks from the tests themselves.
Genetic testing is complicated, and it can cost a lot, often thousands of dollars.
Most insurance plans cover genetic testing, at least to some extent. But whether a specific person will be covered depends on a number of factors. For example, the person’s personal or family cancer history may need to meet certain medical criteria for testing. Some genetic tests are also more extensive (and cost more) than others.
Federal health care laws say that genetic testing should be covered for some women who do not have cancer themselves but are found to be at higher risk for a BRCA1 or BRCA2 gene mutationfor s. The amount of coverage will depend on their health plan.
It’s best to get an idea of how much testing is likely to cost before you have it done. Your genetic counselor may be able to help you understand the likelihood that your test will be covered and the policies for pre-authorization and billing.
Even if genetic testing is covered, you may decide not to ask your insurance company to help pay for testing. Some people choose to pay for it themselves in order to keep the results as private as possible.
People who get genetic testing in a medical setting are protected by the Health Insurance Portability and Accountability Act (HIPAA) in terms of who can receive the information and how it can be used. The federal law known as GINA provides additional protections for most people.
GINA is a federal law that prohibits the use of genetic information in workplace employment decisions for non-governmental organizations with more than 15 employees. This law also bars health insurers from making coverage or cost decisions based on genetic information.
GINA defines genetic information as:
GINA bars employers from discriminating on the basis of genetic information in hiring, firing or layoffs, pay, or other personnel actions such as promotions, classifications, or assignments. The law applies no matter how they got the information.
Employers are not allowed to require genetic testing and can’t collect genetic information, with very limited exceptions. For instance, it may be allowed when information is needed to meet the requirements of family and medical leave laws or to watch for harmful effects from hazardous workplace exposures.
Employers must keep genetic information confidential. They can’t release or share genetic information except when they are:
GINA bars health insurers (including group health plans, individual plans, and Medicare supplemental plans) from turning down people or charging higher premiums for health insurance based on genetic information or for using genetic services. This includes genetic counseling and testing. The law also bars these insurers from asking for or requiring genetic tests. GINA applies to all health insurance plans (including federally regulated ERISA plans, state-regulated plans, and private individual plans).
Patients, families, and health care providers are not the only ones interested in genetic information. Here are some of the other groups who might want to use this information:
Medical researchers must get a person's informed consent before any studies of their tissue samples and DNA can be done. Some labs use a system where a person can decide to allow or not to allow their leftover DNA to be used in research once the testing has been completed.
Employers are allowed to ask for genetic testing if it’s used to monitor exposure to potentially toxic chemicals and substances in the workplace. Testing for a hereditary cancer syndrome would not be expected to fall under this category.
The American Cancer Society medical and editorial content team
Our team is made up of doctors and oncology certified nurses with deep knowledge of cancer care as well as editors and translators with extensive experience in medical writing.
Bonadies DC, Farmer MB, and Matloff ET. Chapter 38: Genetic counseling. In: DeVita VT, Lawrence TS, Rosenberg SA, eds. DeVita, Hellman, and Rosenberg’s Cancer: Principles & Practice of Oncology. 11th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2019.
Center for Disease Control and Prevention. Family health history and your child. Published 2024. Accessed January 16, 2025. https://www.cdc.gov/family-health-history/family-health-history-and-you/family-health-history-and-your-child.html
Department of Health and Human Services. Genetic Information. June 16, 2017. Accessed at https://www.hhs.gov/hipaa/for-professionals/special-topics/genetic-information/index.html on August 19, 2022.
National Cancer Institute. Cancer Genetics Overview (PDQ)–Health Professional Version. 2022. Accessed at https://www.cancer.gov/about-cancer/causes-prevention/genetics/overview-pdq on July 26, 2022.
National Cancer Institute. Genetic Testing for Inherited Cancer Susceptibility Syndromes. 2019. Accessed at www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet on January 26, 2022.
National Council for Adoption. How adoption professionals can support adult adoptees’ search for information: Adoption advocate no. 104 Published 2017. Accessed January 16, 2025. https://adoptioncouncil.org/publications/adoption-advocate-no-104/
Last Revised: January 16, 2025
American Cancer Society medical information is copyrighted material. For reprint requests, please see our Content Usage Policy.
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