Most cases of breast and ovarian cancer happen by chance. However in some situations, individuals can have harmful changes (called pathogenic variants) in specific genes that convey an increased risk of developing breast and ovarian cancers. These pathogenic variants are inherited (passed from parent to child) and can be detected by genomic testing. A strong family history of breast, ovarian and/or colorectal cancers may suggest pathogenic familial variants.
Approximately 5-10% of breast cancers are due to inherited genetic variants and at least 20%of ovarian cancers are also thought to be hereditary. Genomic testing of BRCA1, BRCA2 and other cancer susceptibility genes can be used to identify patients and relatives with an increased lifetime risk of these and other cancers due to inherited pathogenic variants. Having a genetic variant for HBOC does not guarantee cancer development but elevates the lifetime risk substantially.
Testing for these genetic variants is important is important in two main settings. Diagnostic testing is performed for individuals with a diagnosis or personal history of cancer, and predictive testing is performed in unaffected individuals to determine the future risk of cancer. Awareness of family cancer risk can alter medical care for individuals and their families.
Genetic testing for HBOC might be recommended if you have:
Other reasons for genetic testing may also be considered, and your healthcare provider can help you understand whether you may be a candidate for testing.
Genomic Diagnostics offers multiple gene tests and panels for hereditary breast and ovarian cancer.
Genetic counselling is required by our national accreditation body for all tests as the results can have important medical and psychological implications for both you and your family. This counselling can be performed by a qualified genetic counsellor or a medical specialist.
Your request for testing may come from either a general practitioner or a medical specialist, we accept both. There are different pathways to obtain testing, depending on your requesting practitioner. This is due to the requirement for genetic counselling and Medicare.
A specialist can request any of our hereditary breast and ovarian cancer tests. They may do so to direct the use of specific treatments if you currently have cancer, guide risk-reducing surgery, and also to guide in the testing of at-risk family members. Often you will be covered by Medicare for your test.
Medicare does not cover any requests originating with a general practitioner (GP) and GP's are also unable to perform the genetic counselling which must accompany all tests. To enable you to access breast and ovarian cancer genetic testing through your general practitioner, Genomic Diagnostics offers a combined testing and genetic counselling package. This package includes dedicated pre-and post-test genetic counselling sessions with a qualified genetic counsellor along with genetic testing. The counsellors will guide you through what testing means, the potential implications for you and your family members, and what your results mean. This option is often chosen by unaffected individuals.
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.
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.
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.
Genetic testing for inherited cancer is most often accessed through state-funded Familial Cancer Services at major public hospitals, and private medical specialists and clinics with an interest in inherited cancers. These options continue to be available.
Unfortunately, due to increased awareness of testing, wait times for pre-test counselling and genetic testing can be very long (6 -12 months) and can be even longer for patients in regional and remote areas.
While testing through public and private services can be free of charge this is not always the case, as patients may not meet the eligibility requirements of the medical service or Medicare criteria.
The Genomic Diagnostic option for breast and ovarian cancer genetic testing requested by GPs provides medically referred, rapid and safe access for patients looking for an alternative offering to traditional pathways to testing. We recommend that you talk to your GP to see if this option is right for you.
Testing for multiple genes takes approximately 4 weeks. Testing will not start until your pre-test genetic counselling session has been completed.
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.
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.
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.