Process for getting a genomic test
Talking to your healthcare professional is a good place to start. Some tests can be ordered by your General Practitioner while other tests need to be ordered by a clinical genetics service or a specialist (e.g. paediatrician, cardiologist, oncologist). Your healthcare professional will organise a referral to the most appropriate person for your situation.
Deciding whether genomic testing is right for you
It is your choice to have genomic testing. Speaking with your healthcare professional, and ensuring you understand the risks and benefits of the test, is essential to provide your consent. You may also wish to bring family members to appointments and discuss the implications of testing with them further before consenting.
Before consenting to genomic testing, you may like to consider:
- The potential impact of testing on your family because you share genetic information (e.g. may cause worry, and reveal the genetic risk of other biological relatives)
- Receiving an unexpected result, also called an ‘incidental’ or ‘secondary’ finding (e.g. a finding that is unrelated to the original reason for testing that may have an impact on you and your family’s health)
- Identifying unexpected family relationships (in rare cases, testing may reveal no genetic relationship between family members)
- The impact on getting some types of insurance.
What sample is needed for a genomic test?
The type of genomic test being undertaken will determine what type of biological sample is needed. Most commonly a blood or saliva sample is required, however genomic testing on tumours will require a tumour biopsy. Your healthcare professional will discuss this with you.
How much do genetic and genomic tests cost?
If your healthcare professional suggests you get a genetic or genomic test, ask them about the possible cost of the test. The cost of tests can vary greatly and part of providing informed consent for a test is understanding how much that test will cost you, or your out-of-pocket cost.
Some genetic and genomic tests are listed on the Medicare Benefits Schedule (MBS). Rebates for these tests will be subject to eligibility requirements for the test. Sometimes, there may be an out-of-pocket cost for testing – even if it is listed on the MBS.
Other genetic and genomic tests may be offered through the public health system, or you might choose to have a genomic test privately.
What to expect from genomic testing
Genomic test results can take a long time to be returned, sometimes several months. This can be due to the type of testing undertaken and the complexity of the analysis. Awaiting results can be stressful. You can seek support from your healthcare professional, a mental health professional or a patient support and advocacy group.
Results from genomic testing are not always straightforward and can sometimes lead to more questions. It is important to be aware that genomic testing may not lead to a conclusive result. For example, in clinical diagnostic sequencing for rare disease, only about half of all patients receive a definitive genetic diagnosis.
Types of results may include:
- A genetic change is found that is associated with your health condition
- No genetic change is found as the cause of your health condition
- A variant of uncertain significance has been found. This means that it is not currently known whether the genetic change found is the cause of your health condition. If a variant of uncertain significance is found, more testing may be done to try to find out what this means for you.
Getting results
Once your results are ready, your healthcare professional will discuss them with you. This may be a face-to-face discussion, but it can also be over the telephone. You can ask your healthcare professional how they plan to communicate your results with you.
Your results will be uploaded to My Health Record unless you have opted out of this service. However, you should discuss your genomic results with your healthcare professional in the first instance.
Changing your mind about testing
If you are thinking about not going ahead with genomic testing after providing your consent, it is important to tell your healthcare professional as soon as possible.
Your healthcare professional will assist you in withdrawing your consent and explain any implications of not proceeding with the testing, so you can make an informed decision about your care.