Genetic testing is becoming increasingly accessible in Australia. It can provide important information about your health, your future, and the health of your family. But genetic testing is not always the right test for every person, and deciding whether to test can sometimes be more complicated than simply asking, “Can I have a genetic test?”
Before having genetic testing, it is worth considering a few important questions.
Why am I considering genetic testing?
Start by thinking about what has prompted you to consider testing.
Perhaps you have a strong family history of cancer, heart disease or another genetic condition. Maybe you have symptoms that have not yet been explained. You may be planning a pregnancy, have a child with developmental or medical concerns, or have been diagnosed with a condition where genetics could influence treatment.
Your reason for testing helps determine whether genetic testing is appropriate and, importantly, which type of genetic test may be useful.
What do I hope the test will tell me?
Genetic testing can answer some questions, but it cannot answer all of them.
Depending on the test, you may learn that you have a genetic change associated with a particular condition. You may also receive a result showing that no significant genetic change was identified. Sometimes a test identifies a genetic change whose significance is currently uncertain.
It is therefore important to think about what you would do with each possible result before testing.
Could the result affect other members of my family?
Your genetic information is connected to your biological relatives. A result may provide useful information for parents, siblings, children or other relatives who could potentially have the same genetic change.
For example, identifying a hereditary cancer predisposition may allow relatives to consider their own testing and appropriate cancer screening.
Genetic testing can therefore have implications beyond the person having the test.
Am I comfortable with the possibility of an unexpected result?
Genetic testing can sometimes reveal information you were not expecting.
You may discover that you have an increased risk of developing a condition later in life, that you carry a genetic change that could affect your children, or that other family members may also be at risk.
For some people, this information is empowering. For others, it can create uncertainty or anxiety. There is no universally “right” response.
Do I understand what the test can and cannot detect?
Not all genetic tests are the same. A targeted test looking for one specific genetic change is very different from a large panel or whole-genome or whole-exome test.
A negative result does not necessarily mean that a genetic condition has been ruled out. Similarly, a positive result does not always mean that a person will definitely develop a particular condition.
Understanding the limitations of the proposed test is an important part of informed decision-making.
Have I had an opportunity to discuss my options with a genetic counsellor?
Perhaps the most useful question is not simply “Should I have genetic testing?”, but “Would genetic testing be useful for me, given my personal and family history?”
A genetic counsellor can review your medical and family history, explain the available testing options, discuss potential results and help you decide whether testing is appropriate.
At Rosalind Genetics, our genetic counsellors work alongside experienced clinical geneticists and other specialists to help Australians make informed decisions about genetic testing.
Genetic testing is a powerful tool, but it is most useful when it is chosen for the right reason, with a clear understanding of what the results could mean.
If you are considering genetic testing, you do not have to navigate the decision alone.
