Benefits and Risks of Genetic Testing

The decision about whether to take a genetic test can be a difficult one. Taking a genetic test is your choice. Therefore it is important that you have discussed and understood all the information that you have been given to help you make your own decision. It is also important that you have the opportunity to discuss with a doctor or genetic counsellor any questions or worries that you may have.

Genetic testing can bring great benefits, but there are also a number of possible risks and limitations. It is important to understand the benefits and risks before making a decision. Some of these benefits and risks are discussed below. The list is not complete, and not all the points will be relevant to your specific situation. They might however give you some useful things to think about and discuss with the doctor or health professional.


A genetic test might be able to tell you for certain about you or your child’s genetic makeup. For some people this relief from uncertainty is very important, even if the news is bad. If the news is good, such as a mild prognosis, it can mean a tremendous sense of relief.

A genetic test can help diagnose a genetic condition. When someone has an accurate diagnosis, the appropriate treatment can be given, and you have a better chance of finding support. If a genetic test tells you that you have an increased risk of developing a condition later in life (such as breast cancer) you might be able to go for more regular check-ups, or take other measures to keep the risk to a minimum.

The results of a genetic test can provide useful information when planning for future children. If you know you and your partner are at high risk of having a child with a genetic condition, it may be possible to test the unborn child during pregnancy to see if it is affected. Knowing you have an increased risk of having a child with a genetic condition might give you the opportunity to be more mentally and practically prepared.

Because genetic conditions often run in families, information about your genetic makeup might be useful to other family members. If family members are aware that a genetic condition runs in the family, it might prevent them from being misdiagnosed. This information might also be of use to them when they are planning children.

Possible risks and limitations

Taking a genetic test, waiting for the results, and then receiving them may cause a range of mixed emotions such as relief, fear, anxiety or guilt. It is important to think through the possible consequences for you and your family if you were to receive either good news or bad news.

Even though a genetic test may confirm a diagnosis, there may be no intervention or treatment available.

In some people a gene or chromosome change (mutation) cannot be found. This does not necessarily mean there is no change. Some genetic mutations are very difficult to find with current laboratory techniques. For those trying to get a diagnosis this can be very frustrating. You should discuss this issue with your doctor.

For some conditions, even though a changed gene or chromosome is found, it is not possible to tell how severely a person will be affected.

Genetic mutations are often passed down through families. Therefore, the results of your genetic test may reveal genetic information about other family members, in particular their genetic risk of a condition. Will other family members want to know this?

It might be important to find out how the results of a genetic test would affect your insurance situation before going ahead with testing.

Test results may sometimes reveal family secrets involving paternity and adoption.

Once you have the results of a genetic test there is no going back. This is why it is important to be very sure about the decision you make, and why it is important to discuss your decision with a genetic counsellor or another trained healthcare professional. Remember that making an appointment to have a discussion does not mean that you have to go ahead with testing.