Colorectal cancer is one of the most common cancers in Australia. About 30% of people with colorectal cancer have a family history of the disease, and up to 10% have genetic changes linked to inherited cancer syndromes like Lynch syndrome and Familial Adenomatous Polyposis (FAP) or MUTYH-Associated Polyposis (MAP).
Lynch syndrome is a common inherited condition that increases the risk of colorectal cancer, endometrial cancer, and other cancers. It is caused by specific changes in certain genes (MLH1, MSH2, MSH6, PMS2, and EPCAM).
Genetic testing can identify these changes, allowing patients and their families to take steps to reduce their cancer risk through regular screening and preventive measures.
This test looks for genetic changes linked to Familial Adenomatous Polyposis (FAP) and MUTYH-Associated Polyposis (MAP), which are conditions that increase the risk of developing colorectal cancer.
Identifying these pathogenic variants early allows for proactive management, including enhanced screening, preventive surgeries, and other risk-reducing strategies.
When there is a family history, both the Lynch Syndrome and FAP/MAP Panels can help in assessing your inherited colorectal cancer risk. Knowing your genetic status allows for earlier, more personalised interventions, potentially preventing cancer or catching it early when it's easier to treat.
Your doctor will be able to advise if you are eligible for Medicare or not. Pre-test genetic counselling is required prior to undertaking genetic testing.
Genomic testing in breast and ovarian cancer can be clinically useful in two main areas:
Awareness of inherited cancer risk can alter medical care for individuals and their families.
Genetic counselling involves discussing benefits, limitations and the possible consequences of the genetic testing to be performed. It can be provided by your referring specialist or a qualified genetic counsellor and must be undertaken before testing.
As a complex, cancer risk test, where the results can have important medical and psychological implications for both the patient and their family, our national accreditation body requires genetic counselling to be performed prior to genetic testing. GPs are not trained or accredited to provide genetic counselling services.
Following counselling you are then required to consent to genetic testing. If you do not wish to proceed with the testing, you may stop the process here.
Post-test counselling enables full understanding of what the results mean for you, as well as any implications for family members.
The BRAoVO panel looks at high and moderate high risk genes associated with an increased lifetime risk of breast and ovarian cancers, as well as other cancers such as prostate and pancreatic cancer.
The panel contains 13 genes – ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11 and TP53.
BRCA1 and BRCA2 are the most commonly involved and can also be tested for as a 2-gene panel only.
We now also have the BRAoVO Plus panel, which looks at all those genes covered in the BraOVO panel, along with 5 additional genes: MLH1, MSH2, MSH6, PMS2 & EPCAM.
These are important for breast cancer patients with a family history that includes ovarian cancer and is also useful for families where there is a mixed cancer picture of breast +/- ovarian +/- colorectal cancer.
Familial cancer gene testing looks at only a single gene, performed when a biological relative has been shown to have this gene.
Your results will be clinician or genetic counsellor, who will discuss them with you along with the next steps. Possible findings include:
Pathogenic variant found – also known as a ‘positive’ result. This means a gene change was identified that is known to increase your cancer risk. It does not mean you will definitely develop cancer if you don’t have a personal history of cancer, but if you have cancer it may influence your medical management. The result should be shared with your relatives who may want to be tested to understand their own cancer risk.
No pathogenic variants found – also known as a ‘negative’ result. This means you do not have a harmful change in any of the genes that were tested. It does not mean you will not get cancer, as there are many other factors that contribute to cancer risk, and it does not rule out changes in genes that were not tested.
Variant of unknown significance (VUS) found – this means a gene change was identified however its impact on hereditary cancer risk is not yet understood. This finding will not change your ongoing medical care.
Testing for multiple genes takes approximately 4 weeks. Testing will not start until your pre-test genetic counselling session has been completed.
You may change your mind about testing at any stage during the process.If you have paid privately for a test, please call our Customer Care team on 1800 822 999 to arrange a partial refund. Administrative costs may apply.
Medicare covers the cost of hereditary breast and ovarian cancer testing in some circumstances only. Your test will need to be referred by a specialist, in addition to meeting other criteria.
Please call our Customer Care team on 1800 822 999 to discuss a refund if you do not proceed with testing. Administrative costs may apply.