Information for Patients

Information for Patients

This section tells you about genomic testing provided by Canberra Clinical Genomics. It explains all the steps and procedures involved in the testing. Knowing what is involved will help you decide if you want to receive the test.

What are genes?
Genes are the instructions inside you that tell your body what to look like and how to work. Genes get passed down in families from parents to children.
Genes are made up of DNA and appear on thread-like structures called chromosomes. Genes are inside almost every cell of your body. There are over 20,000 genes in each of your cells, and together these genes make up your “genome”. Each gene has a specific function, however the function of all genes is not yet known. Variations in genetic information in different people can occur, which is why we are all unique. Some variations are harmless, but other variations can make a gene not work, resulting in a disorder. Identifying variations may help to find the cause of your genetic condition.
Previously, testing to look for variations in genes involved looking at only one gene at a time. There are now new types of tests that can look at many or all of our genes at once. This testing is known as “genomic” sequencing.

Why consider genomic testing?
Your clinician may consider genomic testing because sequencing all or part of your genome might help to make a diagnosis in your case. It is provided as part of your care and is ordered by your clinician.

What does genomic testing involve?
Firstly, your clinician will explain the benefits and risks of receiving the test. You will need to sign a consent form to indicate that you clearly understand these. When you are ready all it takes is a blood sample.

Your clinician will provide us with information about your condition, the tests you have had, treatments you have received, any other health problems and history of related health problems in your family. This information will help us interpret your genomic sequencing results.

In some cases genomic testing of close relatives (immediate family) can provide important information to help understand the genetic basis of disease, whether or not the relative has the same disease. If you agree your close relatives will be contacted and asked to undergo genomic testing as sequencing their genome could aid in the interpretation of your sequencing results. They will need to consent separately to their testing, and we will need to collect their health information and a blood sample.

Final results will be issued to your clinician. They will contact you to discuss them. As this is a complex test final results usually takes 6 months.

What are the possible benefits of receiving the test from Canberra Clinical Genomics?
The genomic sequencing test is not currently funded as a routine diagnostic test by Medicare but you will have access to this test at no cost. Genomic testing by Canberra Clinical Genomics is being funded by ACT Health, through a collaboration between Canberra Health Services and the Australian National University. The results may confirm or provide a diagnosis and may influence your healthcare. Expert advice and counselling is available to provide you with more information about the possible outcomes of genomic sequencing.