Benefits and Risks of Testing

Benefits and Risks of Genetic Testing

Genetic testing is noninvasive—it uses blood or saliva to check for inherited mutations linked to cancer. The test can provide important medical information for the person being tested and their blood relatives. You should be aware of the benefits, risks, limitations and costs before you proceed with testing. Below are some key considerations:

A genetics expert will explain the benefits, limitations and costs of genetic testing and help you decide whether you should have genetic testing.

Benefits of genetic testing for people who have never been diagnosed with cancer

Genetic testing can be a valuable tool to help people without cancer learn more about their risk and their medical options. 

• If your test is positive for a mutation, you may have medical options to lower your risk for cancer or detect it early at its most treatable stage.
• If your test is negative for a mutation, it may be comforting to know that your risk for cancer is not increased. Importantly, not all negative tests indicate an average risk for cancer. See this page for more information.  

Limitations of genetic testing

Genetic testing is most informative for people who meet testing guidelines, but it may not help everyone learn about their cancer risk.  People who don't meet testing guidelines have an increased chance of an uninformative test result. They can still be tested, but their insurance may not cover the cost. In some cases, financial aid or low-cost options may be available. 

Genetic testing performed by reputable labs is highly accurate, but the results can be complex. We have heard some reports of tests that were misinterpreted by healthcare professionals who are not genetics experts. Many labs have simplified their results reports to minimize this risk. 

Testing does not always provide an answer about the cause of cancer within a family. This is known as an “uninformative test result.” There are two types of uninformative results: variants of uncertain significance and uninformative negative tests.   

Current genetic testing may not find a mutation, even in families with multiple members who have had cancer. In this situation, the test may be considered an uninformative negative test.  These "mystery families" may have a mutation that is not yet detectable with current genetic testing, or they may have some other factor in common, such as exposure to the same toxins that cause the cancer in the family.

Not all gene changes are harmful or lead to cancer. A variant of uncertain significance (VUS) means that the test identified a change in a gene, but experts cannot determine whether that change is harmful. Over time, as more people are tested and testing technology improves, labs may reclassify a VUS as "harmful" (pathogenic or likely pathogenic) or "not harmful” (benign). 

See this page for more information about uninformative test results. 

Risks of genetic discrimination

Some people worry that the results of a genetic test may affect their ability to get a job or health insurance. The Genetic Information Nondiscrimination Act (GINA) is a law that prohibits discrimination by health insurance companies and employers based on a genetic test result or family history of disease. It is important to note that GINA does not apply to life, long-term care, or disability insurance. These insurers may use genetic or health information to make coverage or premium decisions. Some state laws go beyond the scope of GINA to prohibit genetic discrimination for "other insurances.” Your genetic counselor can help you understand the laws in your state. 

Costs of genetic testing

Most health plans cover the cost of genetic testing for people who meet certain criteria. For those without insurance coverage for testing, many labs offer financial assistance or low-cost testing for about $250.