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Doctor and Patient

Information for Patients

All services provided by Canberra Clinical Genomics are FREE for ACT and surrounding residents*.

*Eligibility is based on local residents who have a completed CCG request form from a Genetic Health service, Genetic Counsellor, Specialist, or GP (under some circumstances).

​No patient paid services are offered so eligibility is essential.

What is the Genomic Sequencing Process?

A Discussion with Family: Clinical genomic testing works best when the testing service is given as much relevant medical information as possible. This potentially includes medical information about relatives who may share the same condition as you. Having a discussion with your family about your wishes to investigate genomic testing is an important first step in the process. The more similarly affected family members we're able to test, the better of a chance we have of finding an answer.

Referral: Next, you'll need to see a local doctor or specialist and have them write you a referral. This will need to include any clinical information and family history that is relevant to your condition we're being requested to investigate. A detailed clinical history is crucial to help find the genetic cause. This would be the best time to involve additional family members as it will ensure a smooth process, where everyone can be heard and have their questioned answered. For more complex genetic cases (e.g. Intellectual Disabilities) pre-test genetic counselling is required.


Sample Collection: With a referral, you (and all additional family members) can go and have some blood collected. A small amount of blood (about 10ml) will be collected and sent to us for DNA extraction. We strongly advise using ACT Pathology where possible as they are most familiar with our tests and have processes in place to ensure your specimen is sent to us within the appropriate timeframe. 

Sequencing: From here, we take over. Once we've received your specimen(s) and request form(s) we extract the DNA, sequence it, and send it through Australia's largest CPU-based supercomputer to produce a file that we can analyse.

Analysis: With our files and in-house advanced analysis software, our variant curators select an appropriate gene panel to analyse according to your medical condition. We then systematically search a myriad of clinical resources to find variant(s) that explain your condition. If a variant is identified, confirmation testing with a gold standard is done and a report is written. Diagnostic rates vary depending on the biological system affected and the degree of research and clinical knowledge published to date.

Report Release: Once a report is ready, we will send it securely to the requesting doctor for them to review. They should then reach out to you to book an appointment to meet and discuss the results. 

What is the Likelihood of Finding an Answer?

The success rate of finding a genetic cause for a disorder through medical genomic sequencing varies depending on the specific disorder being investigated. For some rare genetic diseases, genomic sequencing can be highly effective in identifying the underlying genetic cause. For example, in cases of rare genetic diseases where a single gene variant is known to be the cause, genomic sequencing can have a high success rate in identifying a causal DNA variant(s). In these cases, the success rate can be as high as 80-90%.

However, for more complex disorders or less studied conditions, genomic sequencing and analysis may be less effective. Some disorders are influenced by many different genes and/or environmental factors, making WGS less useful. It's also worth noting that genomic sequencing is just one tool in a larger toolkit for diagnosing and treating disorders. Even if a genetic cause is identified, it may not lead to a clear treatment plan for your disorder.

How to Begin a Conversation about Genomic Testing with your Doctor?

Initiating a conversation about genomic testing with your doctor can be an important step towards understanding your risk for certain diseases or conditions. Here are some steps you can take to start the conversation:

  1. Do some research: Before you talk to your doctor, it's a good idea to do some research on genomic testing and the conditions it can help diagnose or assess. This will help you better understand the benefits and limitations of the testing and can help you ask more informed questions.

  2. Schedule an appointment: Schedule an appointment with your doctor to discuss genomic testing. You may want to mention that you're interested in discussing genomic testing when you make the appointment so that your doctor can be prepared.

  3. Be upfront about your concerns: When you meet with your doctor, be upfront about your concerns and why you're interested in genomic testing. Explain your family history, if relevant, and your personal health goals.

  4. Ask questions: During the appointment, ask questions about the testing process, what information the testing can provide, and what the potential risks and limitations of testing may be.

  5. Take your doctor's advice: Your doctor will be able to provide guidance on whether genomic testing is appropriate for you based on your personal and family medical history. Be sure to carefully consider their advice before making a decision about testing.

  • Who do I go to, to initiate a conversation about genetic testing?
    Please consult with your local doctor or specialist about testing options. They may send you to a Genetic Counsellor to discuss possible testing, or they may be able to provide CCG with a filled out request form directly if the test analysis is going to be targeted and diagnostic. This will reduce the risk of an incidental finding. If you haven’t got a specialist currently treating or monitoring your condition, please speak with your GP and they may refer you to a specialist or a genetic counsellor. Depending on the complexity of the genetic analysis required, your GP or specialist may be able to request the testing, or alternatively if the testing is predictive or complex, pre-test genetic counselling will be required.
  • What can genetic testing tell me about my disease?
    Genetic testing can reveal if you carry specific gene variant(s) associated with particular diseases. It can provide a precise diagnosis and insights into the risk for developing a condition, its potential prognosis, and whether there is a risk for your children and relatives. This information can help in preventive measures, early diagnosis, and personalised treatment plans.
  • Can I revoke my consent for this testing once it has started?
    Yes, you can revoke consent at any stage of the process, or for any clinicians in the future. You are able to cancel your testing by contacting us or your doctor directly. No reason or justification is required. We will issue a report stating that testing has ceased within a week and will stop all stages of the analysis process after that point. All data produced will be destroyed however a record of this test being ordered (and cancelled) will still remain in the Digital Health Record (DHR). For more information about record keeping and patient privacy in the ACT Health DHR, please refer to the CHS website.
  • Am I able to get immigration testing done at Canberra Clinical Genomics?
    No. Canberra Clinical Genomics is not accredited in parentage testing for the Australian Government Department of Home Affairs. We specialise in clinical genomic testing for patients with potential genetic disorders. The Australian Government Department of Home Affairs suggests going to the NATA website ( ) and searching ‘Parentage Testing’ in the keywords section. These companies should be experienced in this type of testing and should be able to assist you in getting the appropriate test. For further questions about this, please contact the Australian Government Department of Home Affairs directly.
  • Can you use the sequence I had done at another company?
    Unfortunately not. Sequencing platforms and bioinformatic analysis methods differ between labs, and the data you’re been provided would not be compatible with our custom analysis pipeline. Overseas (online) companies are also not generally accredited with Australia’s strict quality standards meaning we could never be certain that the data we would receive is accurate, or even yours. Testing is free. You’ll need to get a small amount of blood drawn (usually through ACT Pathology) and we’ll take care of the DNA extraction, sequencing, analysis, confirmation testing, and secure report delivery to your requesting doctor.
  • How long will it take before I get my results?
    This will vary based on complexity of the case, however please refer to the specific test ordered for up to date turn around times. If you feel your results are taking a little longer than expected, please contact the requesting doctor, as they may have already received the report. They will also be able to have a discussion with us to determine why it may be delayed (i.e. confirmation testing being required, lack of consent forms, lack of clinical details, etc.)
  • Is it possible to have my results expedited?
    On occasion, especially when a patient is requiring results for a time limited intervention or medical urgency, testing can be expedited. Any expedition of results will need to be discussed with your doctor, who will then contact us directly, after which our Genetic Pathologist or General Manager will decide on the course of action.
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