Genetic testing

Genetic testing can give you important and potentially life-changing knowledge if you have a personal history of cancer, a family history of cancer, or are interested in proactive genetic testing. 

Obtaining a genetic test in Australia can sometimes be complicated. Genetic testing can be accessed through different pathways in both public and private health systems depending on your circumstances. A good first step is to visit your GP to go through your family history of cancer.

Inherited Cancers Australia is working to ensure people can access a genetic test at the earliest possible point in managing their risk of cancer. That is whether you are considering taking a test proactively to better understand your risk or if you have cancer yourself and are looking for answers or more personalised treatment options.

Ask a genetic testing question

If you are interested in knowing if you are at risk of inherited cancer, looking into genetic testing or learning about ways to reduce your risk of cancer, this service is for you.

Our specialist support service can provide general information relating to your situation and can advise the kinds of questions to ask your general practitioner (GP) about your specific situation.

Our genetic testing Pathway Kit

More about genetic testing

The Australian Government’s Healthdirect Australia provides further information about genetic testing.

What is genetic testing?

Genetic testing is when your genes are tested in a laboratory for mutations which may increase your risk of medical problems, including cancer. Generally, you will be assessed by a Genetic Counsellor at a clinic or hospital and given pre and post testing counselling. The test itself is a blood test and often requires a second one if a gene mutation is found.

There are two types of genetic testing: diagnostic and predictive testing (sometimes called cascade testing). Genetic testing can sometimes help a person with cancer to be able to access more personalised treatment. For people without cancer, genetic testing can see if a person carries a gene mutation that may impact their health.

Diagnostic testing

Diagnostic testing is used to try and identify a genetic mutation in a gene that is associated with causing an increased risk of cancer. In most cases, this type of testing is done on the person who has been affected by a relevant cancer. 

Doing genetic testing this way increases the chance of finding a gene mutation. At times, cancer patients can access more targeted treatment options if a gene mutation is found, and it also helps in clarifying the risk of cancer and options for gene testing for other relatives.

Genetic testing for known hereditary cancer genes is usually ordered by a Family Cancer Clinic (FCC) and is done via a blood sample. The test result can take a few months (sometimes longer) to become available. In some situations, the doctor can request the results be fast-tracked and this is usually done where a treatment decision is dependent on the results.

Predictive testing

Predictive testing is a type of gene testing that determines whether you have inherited a gene mutation that is already known to be present in your family. 

If you have inherited the gene mutation, you will be considered at an increased risk of specific cancers, and you should be informed about how to manage your risk.  

If you haven’t inherited the gene mutation, you will usually have the same risk as the general population risk (which is not zero but is usually considered low). This also means there is no risk of passing that particular gene mutation onto your children. 

Hereditary cancer gene mutations can be passed down from either a mother or a father. There is a 1 in 2 chance your children (each embryo) will have inherited the same gene mutation. So, it is important to talk about hereditary cancer risk in both women and men.

What are family cancer clinics?

Family cancer centres or clinical genetic services provide an assessment of a family history of cancer and give information and support to help individuals and families regarding a personalised level of cancer risk, recommendations regarding how you can manage any increased cancer risk, understanding the chance a hereditary gene mutation may be involved in causing your family history and facilitating genetic testing where appropriate.  

Most family cancer centres are part of the public hospital system, however there are some private cancer genetic service providers. As this is a specialist area of medicine, you need a referral from a GP or other specialist doctor. There is no cost for family cancer centre services in the public system. 

• Where are the clinics located? 

There are public family cancer clinics and genetic services throughout Australia. Public genetic services offer genetic testing if there is a significant chance of finding a fault (usually over 10%). Click here for your closest family cancer clinic. 

If you or your family are not eligible for public genetic testing, there are private services available which you can find here. 

Why is genetic counselling important?

A genetic counsellor has specialist knowledge in human genetics, counselling and health communication skills.

A genetic counsellor can provide information to you and your family about genetic health conditions (including gene mutations), who in the family may be affected and the intricacies of genetic testing. They can also provide emotional and practical support to help you adjust to living with, or being at risk of, cancer.

A genetic counsellor’s role is to provide information and support to you and your family and help you:

• Investigate your family health history
• Learn about genetic testing and understand the results of testing
• Learn about and adjust to the knowledge of being at increased cancer risk
• Learn about ways to manage an increased cancer risk
• Support decision-making regarding ways to manage an increased cancer risk, and
• Talk about genetic risk information with family members.

Genetic counsellors can work in hospitals, community health centres and specialist clinics.

In Australia, genetic counsellors are registered with the Human Genetics Society of Australasia and you can find a service via their website.

Understanding your genetic testing results

Interpreting a genetic test result is complicated. You should have your test results explained by an appropriately trained medical or genetics specialist.

Factors such as whether there is a family history of cancer, whether a hereditary gene mutation is already known to be present in a family; and whether the person having a test has been affected by cancer or not, are important when interpreting the meaning of a genetic test result.

When is genetic testing helpful?

Genetic testing can be used to help predict or assess a person’s risk of a health issue (such as cancer) however, it is not useful for everyone.

Genetic testing may be able to identify a mutation in a hereditary gene that is related to a specific cancer. Some people with a gene mutation will also have a family history of cancer, but some people will not.

Family cancer clinics in Australia use sophisticated statistical algorithms to determine the chance that a specific family history of cancer is due to a known hereditary gene.

How much does genetic testing cost?

The cost of genetic testing varies a lot.

For some families, the cost of genetic testing is covered by Medicare (publicly funded). Your family must first meet the criteria for a referral to a Genetic Service which will then assess your eligibility for publicly funded genetic testing.

Genetic testing usually starts by testing someone who has been affected by cancer, as this optimises the chance of finding a gene mutation. Testing someone who has been affected by cancer also helps interpret the options for genetic testing and what the cancer risks are for other relatives.

Where publicly funded genetic testing is not offered, this is usually because there is a less than 10% chance the person will have a gene mutation. Tests ordered privately or online are not covered by Medicare.

For publicly funded testing, visit your GP and ask for a referral to a Genetic Service where they can do an assessment if you meet eligibility criteria.

Can I just pay to get the test done?

In some situations, you may wish to pay for your genetic testing. Inherited Cancers Australia recommends that you speak to your general practitioner (GP) or your local Genetic Service before paying for genetic testing, so you understand the limitations of genetic testing in your particular situation.

The cost of testing starts from $500 depending on the type of test performed. There are no private health insurance rebates available for genetic testing in Australia.

For private testing, visit the Human Genetics Society of Australia for information on what clinical genetic services are available in your area.

How does genetic testing affect my insurance?

Genetic testing can have an impact on the ability to obtain certain types of insurance in Australia, although private health insurance is not affected.

The impact of genetic testing on insurance is a complex topic to understand. A Genetic Service will discuss this with you before genetic testing. Head to our Resources Centre for more information about Insurance.

Genetic testing can provide helpful information but may also raise concerns and worries for you and other family members. Genetic counsellors are trained to help support you and your family as you learn and understand your inherited cancer risk.

For FAQ’s on Genetic Testing and family history head to our Resources Centre.