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How Can Genetic Counselors Help Me Understand Results from Genetic Testing?

  • Genetic tests may help you make decisions about your health and can empower your focus on matters you can control.
  • Genetic test results can be complex — positive, negative, inconclusive. You should understand what your results mean.
  • Most times people speak to a genetic counselor either before a genetic test is ordered or after testing is completed.
  • Genetic counselors can explain what genetic testing options are available and help you understand what your genetic testing results mean.

Genetic counselors can help you when you are considering or have received genetic testing. Before a genetic test, genetic counselors help you understand what genetic tests exist, what they may or may not find, and how testing may impact you, your health, and your family.

Genetic testing includes many types of testing for different conditions. Results are often stated in various ways - positive, high risk, pathogenic, inconclusive, variants, mutations.

If you receive a positive result from a genetic test, it means a genetic mutation was found. A genetic counselor will explain what that means for you and your family, and how you might proceed with that information. In some cases, a genetic mutation may be found that is not harmful, or will not affect you. If the result is negative, it means no genetic mutation was found.

In some cases, results are not clear – they’re inconclusive. That could mean a genetic mutation was found but because science doesn’t know everything about every genetic variant, it’s unclear what that may mean. In other cases, it means an expected genetic mutation was not found, but a different mutation may exist in genes that were not tested.

Whether your test results will affect your health or treatment plans depends on many things, including whether any therapy exists for the condition. Some people are motivated to change their diets and exercise more if they find they are at risk for an inherited condition. There are so many variations, and each person is unique. A genetic counselor can help you sort it all out with what it means for you as well as your family.

Sharing Your Test Results With Your Family

While you are under no legal obligation to share genetic test results with anyone, including family members, you might also want to consider sharing them with your family. That way, your family members have important information and can make their own decisions regarding if they would like to pursue testing.

If they are interested in moving forward, you should recommend they see a genetic counselor. Be sure to make copies of your results that they can bring to their appointments. If you are uncomfortable telling them in person, you can make copies of the results and mail them to family members.