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What Is Genetic Testing?

Genetic testing looks for specific inherited changes in a person’s chromosomesgenes, or proteins. Genetic mutations can have harmful, beneficial, neutral (no effect), or uncertain effects on health. Mutations that are harmful may increase a person’s chance, or risk, of developing a disease such as cancer. Overall, inherited mutations are thought to play a role in about 5 to 10 percent of all cancers.

Cancer can sometimes appear to “run in families” even if it is not caused by an inherited mutation. For example, a shared environment or lifestyle, such as tobacco use, can cause similar cancers to develop among family members. However, certain patterns—such as the types of cancer that develop, other non-cancer conditions that are seen, and the ages at which cancer typically develops—may suggest the presence of a hereditary cancer syndrome.

Genetic testing is also done to determine whether family members without obvious illness have inherited the same mutation as a family member who is known to carry a cancer-associated mutation.

Payment Options

Most health insurance companies will cover the cost for genetic counseling and genetic testing if a person meets particular criteria indicating that hereditary cancer might run in the family. A genetic counselor can determine if your insurance will cover genetic testing and help the process go smoothly.

Under the Affordable Care Act, insurance companies are required to pay for both genetic counseling and BRCA testing for women who meet certain criteria. For these patients, insurance companies must cover the entire cost of genetic counseling and BRCA testing with no out-of-pocket costs to the individual.

Even in situations that are not covered under the Affordable Care Act, health insurance often covers the costs of genetic counseling and testing. A genetics expert can work with your insurance company to assure that you receive the services you need while minimizing the costs to you, and to help you appeal if your insurance company denies these services. Further information on insurance appeals is available on our Health Insurance Appeals page. Financial assistance is often available for those who require it.

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Is It Right For You?

Many experts recommend that genetic testing for cancer risk should be strongly considered when all three of the following criteria are met:

  • The person being tested has a personal or family history that suggests an inherited cancer risk condition
  • The test results can be adequately interpreted (that is, they can clearly tell whether a specific genetic change is present or absent)
  • The results provide information that will help guide a person’s future medical care

It is strongly recommended that a person who is considering genetic testing speak with a professional trained in genetics before deciding whether to be tested. These professionals can include doctors, genetic counselors, and other health care providers. Genetic counseling can help people consider the risks, benefits, and limitations of genetic testing.