Information for Patients
All services provided by Canberra Clinical Genomics are FREE for ACT and surrounding residents*.
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*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).
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​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.
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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.
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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.
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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.
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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%.
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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:
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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.
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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.
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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.
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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.
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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.