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I Have My Results, What Happens Next?

Genetic test results are complicated, but a genetic counselor can help you understand them

What does a positive result mean? What does a negative result mean? What does an inconclusive result mean?

There are tests for many different genetic mutations for a variety of inherited conditions. What your results mean will depend on the test and the condition.

If you receive a positive result from a genetic test, it means a genetic mutation was found. The 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 eat better and exercise more if they find they are at risk for an inherited condition.  There are so many variations, and everyone is different. A genetic counselor can help you sort it all out with what it means for you as well as your family.

It is a good idea to share test results with family members

While you are under no legal obligation to share genetic test results with anyone, including family members, you should 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. And 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.

There can be advantages and disadvantages of having your immediate family members and children tested for genetic conditions. A genetic counselor can explain what genetic testing options are available and discuss how that process would work.


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