What is Hereditary Breast and Ovarian Cancer (HBOC)?
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.
Who should consider testing?
Genetic testing for HBOC might be recommended if you have:
- A family history of breast or ovarian cancer, especially at young ages.
- Multiple family members affected by these cancers.
- A known BRCA pathogenic variant in your family or other familial variant.
- Personal history of breast cancer, particularly if diagnosed under 60, or if it's triple-negative breast cancer.
- Ashkenazi Jewish ancestry, which has a higher prevalence of BRCA pathogenic variants.
- Male breast cancer in the family.
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.
Our panels
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.
Patients' process
Step 1
Get a doctor’s request
Your doctor will discuss hereditary breast and ovarian cancer testing with you, ensuring you understand the process, cost (if any) and implications. They will provide a dedicated request form to which you will need to sign your consent to proceed.
Step 2
Have a blood test
Medicare may not cover the cost of this test. If you need to pay for the test, do so here, prior to having your blood taken at your local Healius Pathology collection centre. Write the receipt number on the request form.
Step 3
Genetic counselling
If your request has been signed by a GP or your specialist has requested external genetic counselling, your details will be passed onto our genetic counselling partners, who will contact you directly to arrange a pre-test genetic counselling session.
Step 4
Results consultation with your doctor
Your results will be delivered to your doctors within 4 – 5 weeks after completion of pre-test genetic counselling. If your original request was signed by a general practitioner, these results will also be sent to the genetic counsellor, who will conduct a post-test counselling session with you.
FAQ
Why screen patients for Hereditary Breast and Ovarian Cancer (HBOC)?
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.
Individuals with BRCA1/2 pathogenic variations face significantly elevated risks for breast cancer (up to 72% for BRCA1 and slightly lower for BRCA2 by age 80) and ovarian cancer (up to 44% for BRCA1). Other cancers like prostate, pancreatic, and melanoma are also associated but to a lesser extent.
Genetic testing could be considered when there is:
- A strong family history of breast or ovarian cancer, especially at younger ages
- Multiple family members affected or cases of bilateral breast cancer or both breast and ovarian cancer in a single individual
- Early onset breast cancer
- Male breast cancer
- Ashkenazi Jewish ancestry where BRCA pathogenic variants are more prevalent.
When is testing useful?
Testing for harmful changes in specific genes that convey an increased risk of developing breast and ovarian cancers can help in the following ways:
- Provide specific information on prognosis and lifetime risk of cancer
- Direct the use of specific treatments
- Direct more frequent screening and consideration of prophylactic risk-reducing surgery, for example mastectomy, and medications
- Guide testing of at-risk family members
- Assist couples with reproductive decision making
- Provide an explanation for personal or family history of cancer
Our panels
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.
Genomic Diagnostics offer two pathways by which patients may be tested for hereditary breast and ovarian cancer variants - through either a specialist request or through a general practitioner request.
A specialist can request any of our hereditary breast and ovarian cancer tests.
Our BRAoVOTM 13 gene panel tests for genetic variants in a number of high and moderate risk genes that have been demonstrated to increased the risk of breast and/or ovarian cancer. The BRAoVOTM Plus panel looks at 18 genes, adding to our BRAoVOTM panel the MMR genes and EPCAM from the Lynch syndrome panel. This panel is 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.
Testing of the BRCA1 and BRCA2 genes can be used to determine eligibility for olaparib therapy in some patients with ovarian, breast or prostate cancer, and single gene testing is important for family members where there is a known familial variant.
A general practitioner may only request our BRAoVOTM testing and counselling package. Medicare does not cover any requests signed by a general practitioner and they are also unable to perform the genetic counselling which must accompany all tests. Through the provision of a package, we enable patients to undergo testing and provide dedicated sessions with a qualified genetic counsellor both before and after genetic testing. They will provide detailed information to the patients on what testing means, the potential implications for the patient and their family members, and what their results mean.
Steps
Step 1
Patient consultation
Discuss your patient’s family history of cancer with them and whether testing for hereditary breast and ovarian cancer testing would be beneficial. Complete a dedicated request form, ensuring they understand the process, cost (if any) and implications. If pre-test genetic counselling has been undertaken, ensure the patient signs the form.
Step 2
Sample collection
Patients who are not covered by Medicare will need to prepay for the test here and note their receipt number of the request form. They then attend their most convenient collection centre with their signed request form.
Step 3
Genetic counselling
If the patient is to undertake pre-test genetic counselling through one of Genomic Diagnostics’ qualified genetic counselling partners, their details will be passed on and the genetic counsellors will contact the patient directly to arrange a pre-test genetic counselling session.
Step 4
Result discussion
Results are delivered to you by your preferred method approximately 4 weeks after the patient has had genetic counselling performed or their blood collected (if you performed the latter). For all GP requests, the results are sent directly to the genetic counsellors also and a post-test counselling session arranged.
