How can I order a test?

A healthcare professional can order a test (genomic profile) using one of the order forms. Patients and consumers should discuss their needs with their doctor or genetic counsellor.


What will it cost?

The price of next-generation sequencing has come down significantly from when it was originally introduced. The investment in supercomputers has also decreased because most analysis can be performed in the cloud.

genomiQa’s prices range from: $2900 plus GST for germline analysis and reporting (without sequencing) to $8350 plus GST, which includes:

  • DNA extraction
  • whole genome sequencing of paired normal and tumour samples
  • analysis through CapeQ4
  • reporting for germline and somatic.

What are the payment options?

Accounts will be set up on a 30-day payment cycle for approved clinicians and clinics. Credit card payments are available for clinicians and patients with a five per cent discount applied.


 Reimbursement under PBS

Currently, none of the services performed by genomiQa are reimbursed under the PBS.


Does CapeQ4™ work for all cancers?

Yes. All of our services are based on whole genome sequencing and analysis. This means we can report on many types of variants and can analyse any type of cancer.

Gene panels may not contain the genes most relevant to your cancer type and exomes may not allow us to analyse the variant type that is most important in your cancer type.

Whole genome sequencing is the most complete and unbiased cancer sequencing platform currently available.

A key advantage of CapeQ4 is that we are doing whole genome sequencing, so we always sequence all of the genome. This means that if new genes, disease markers or analysis methods become available, we can re-analyse your existing data.

This saves you time, money and inconvenience because you won’t need to send another sample for another round of sequencing.


What methodology is used for analysis?

We use custom analysis pipelines that run on the Amazon Web Services (AWS) cloud platform.

Our workflows use a combination of custom in-house and publicly available processes. These workflows have been benchmarked in an international study that included sequence research leaders in USA and Europe.


How long will it take to get results?

Results for a germline test are available within 7–10 days of the samples being received.


What are sample requirements/type of sample?

We can perform an end-to-end service and receive blood or tissue samples. Alternatively, we can receive DNA samples or sequence data (FASTQ).


How is data stored and protected?

Please see our privacy and data policy.


Where is testing conducted?

The sequencing can occur in the country the sample is collected in if arrangements have been made with genomiQa.

We have next-generation sequencing providers in Australia: in Brisbane, Sydney and Melbourne. We also have providers in Singapore, South Korea and Hong Kong.


What are my genetic counselling process and options?

Your doctor can refer you to a genetic councillor or specialist.


What is the whole genome advantage over conventional methods?

Please click here for more information about the benefits of whole genome analysis. See Why WGA?


What is the cost comparison with other similar tests?

Not many providers can do whole genome analysis, but for those that can, we are competitively priced.


When is whole genome sequencing useful?

Depending on the disease, whole genome sequencing is useful for diagnosing, treating or informing a person’s risk of disease.


What is personalised or genomic medicine?

Personalised or genomic medicine is the medical discipline that uses and applies genomic information as part of a patient’s clinical care—for medical management.

For rare diseases, genomic medicine may provide a diagnosis for a patient. While in cancer, genomic medicine may identify a heritable risk for cancer, or a targeted treatment for that particular cancer.


Who can view my genomic data?

Please refer to the privacy and data information regarding who can view your data as part of your treatment plan.

By law, a patient’s medical data must be kept confidential and cannot be accessed by anyone without a court order.


Does genomiQa update clinicians based on new research findings after report has been delivered?

genomiQa analyses the whole genome, and as such we do not need to re-run the analysis. If we receive new information relevant to a patient analysed in the last four weeks, we will provide an up-to-date report.


How long can my data be stored for future treatment purpose?

genomiQa has allowed for the sequence data to be stored for up to five years and all reports are stored for up to 100 years.


How many genes can be tested by CapeQ4?

All genes in the genome are tested by the whole genome approach.


Is CapeQ4 relevant to a particular cancer stage?

CapeQ4 is applicable to any cancer stage.


Has the CapeQ4 analysis pipeline been compared to any others?

Many components of genomiQa’s workflow have been benchmarked in an international study, which included sequence research leaders in the USA and Europe.


What is a gene panel?

The human genome contains more than 20,000 genes. For some diseases, we think we know the major genes that are implicated in causing that disease, so we might decide to sequence only those genes. This approach is called gene panel sequencing.

The disadvantage of the panel approach is if researchers find a new gene that causes the disease, and this gene is not on the panel, then the panel is worthless. All of the panels that have been run in the past will also be obsolete because they didn’t test for the new gene.

None of these problems arise if you sequence the entire genome the first time—we call this whole genome sequencing.


What is an exome?

The human genome contains more than 20,000 genes, but genes only take up two per cent of the genome and we know the other 98 per cent is very important, even if it doesn’t contain genes.

Because we know more about the genes than the rest of the genome, we might decide to only sequence the genes. This approach is called exome sequencing.

As researchers learn more about the ways the non-gene parts of the genome are involved in disease, gene-only exome sequencing is going to be of less value.

All of the exomes that have been run in the past will also be obsolete because they didn’t test for the non-gene parts of the human genome.

None of these problems arise if you sequence the whole genome the first time.