​​Genes are like instructions telling the body how to function, grow and develop. Some people may have missing information or changes to their genes which can affect how their body works. Sometimes doctors and scientists will look at one, a few or many of these genes in what we call a genomic test.

There are many different reasons why your healthcare provider may recommend you consider having a genomic test. It may be:
  • to find a diagnosis for you, your child or your relatives condition
  • to help families understand a condition, access support, and plan for the future
  • to provide families with information about the chance of developing a disease or of having a child who will be born with or develop a condition or it may be to help identify best treatment, therapy or screening options for you.

Also, results of one family member can sometimes be important for keeping other family members healthy because you share a lot of your genetic information with your relatives.

It’s your choice to have the test. If you do decide to provide consent for a genomic test, your healthcare provider will discuss the right type of test for you.

DNA for testing can come from blood saliva, hair or tissue. A sample will be collected from you and sent to a laboratory. The laboratory takes genetic information from your sample and looks for bits of missing information or changes to your genes. Then, your doctor, genetic counsellor or health professional will explain your results to you.

So, what are the possible outcomes of the test? Because everyone is unique, the chance of having a meaningful result varies from person to person and test to test. The test may or may not find an answer to your question or could even reveal uncertain findings that we don’t yet understand. This may mean you need to have further testing or your genetic information looked at again in the future. Your Healthcare provider will discuss with you the chance of having a meaningful result.

Some laboratories will only look at genes related to the reason for the test, however there are some instances the test may show additional findings not related to the reason for testing. These may also be called incidental or secondary findings and are not very common.

It’s your personal choice whether to have this test. To help you make this decision, it is important that you are given information specific to your test, and have the opportunity to have all of your questions answered in detail by your healthcare provider.

Some questions you may wish to ask include:

  • Where will my test be done and how long will the results take?
  • What is the chance that the test will identify an answer or find something that is unrelated?
  • How will I receive the test results?
  • What are the costs and are there insurance implications?
  • Will the test change the way I receive health care?
  • Is there a health risk to me from having the test?
  • What support will be available to me during testing and after receiving results?

You may be asked to sign a consent form before the testing is started.

Use the fact sheet to help you discuss the consent form in detail with your healthcare provider and don’t be afraid to ask any questions. We want you to feel confident you are receiving all the information you need to help you make the right choice for you.

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Current as at: Friday 3 November 2023
Contact page owner: Strategic Reform and Planning