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Our Services - Whole Genome Sequencing

What is WGS?

Whole genome sequencing (WGS) is a powerful tool in medicine enabling the analysis of an individual's entire genetic sequence. The process involves isolating and amplifying the DNA, followed by high-throughput sequencing. Bioinformatics tools are then used to map and analyse the data and identify genetic variants. In a medical setting, WGS has multiple applications. It can assist in diagnosing genetic disorders by identifying disease-causing mutations. WGS also provides information on disease risks, allowing for proactive interventions. Additionally, it can guide personalised treatment decisions and help select appropriate medications based on an individual's precise DNA variant(s). WGS advances personalised medicine by providing precise diagnoses, sometimes preventing a diagnostic odyssey for patients.

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Clinical Advantages of WGS

Whole genome sequencing (WGS) offers several clinical advantages to revolutionise healthcare:


1.   Comprehensive Analysis: WGS enables the examination of an individual's genome, providing an assessment targeted towards a patient's specific disorder. This enables the identification of genetic disorder-causing DNA variants, including rare or novel variants that may be missed by targeted genetic tests. The comprehensive nature of WGS makes it especially valuable in diagnosing genetic disorders that can be caused by multiple genes.

2.   Actionable Insights: WGS can not only identify which gene is affected, and which disorder a particular patient has, but it can also identify precise DNA variant(s) within a gene can give specific prognostic and treatment information for the requesting clinician, by linking in with exactly matched published cases. By understanding an individual's DNA variant(s), tailored lifestyle modifications, or preventive treatments can be initiated to mitigate risk or detect diseases at an earlier stage.

3.   Pharmacogenomics Guidance: WGS plays a crucial role in pharmacogenomics, which focuses on the relationship between an individual's genetic makeup and their response to medications. By analysing genetic variants associated with drug responses, metabolism rates, or adverse reactions, WGS assists in selecting the most appropriate medications and dosages for individual patients. This personalised approach improves treatment efficacy, minimises adverse effects, and enhances patient safety.

Analysis Options

Gene Panel Analysis - NPAAC Level: 1

Gene panel nominated by our Genetic Pathologist: 

Based on the clinical phenotype that your requesting clinician provides, we are able to prepare a list of appropriate genes that are directly related to your condition. This keeps our analysis concise and allows for us to provide results to your clinician faster and minimises the risk of incidental findings. 

Gene Panel nominated by the requesting Clinician:

If your clinician wishes to nominate targeted genes for analysis, we are able to work closely with them to ensure that it meets your health care goals. Some lists may only be a few genes, while others could involve hundreds. Turn around times may vary more for this option.  

Whole Genome Analysis - NPAAC Level: 3 (Requires Genetic Counselling)

Whole genome analysis involves looking through >95% of the ~20,000 protein coding genes in the human genome to identify likely DNA variants that may be causing a particular disorder. This method takes considerably longer than a gene panel analysis and has a higher chance of identifying incidental variants, which may not be related to the presenting problem. Large gene lists (such as Intellectual Disability genetic diagnosis) will also fall under this category. For this testing to be made available, your clinician will need to contact us to discuss the genetic complexity of the case. 

Request Form
Whole Genome Sequencing Request Form

Version: 5.0          Release Date: 04/10/2023

Turn-Around Times

Gene Panel Analysis

Gene panel nominated by our Genetic Pathologist: 

3-5 months (depending on complexity)

Gene Panel nominated by the requesting Clinician:

3-5 months (depending on the number of genes nominated)

Whole Genome Analysis

5-7 months

Please note: TATs are dependant on the receipt of a completed test request form (including consent) and specimen(s).


All testing done through Canberra Clinical Genomics is free for ACT and surrounding residents and their family members.

Currently, no paid services are available to residents outside the ACT and surrounding area so eligibility is essential.

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