Hereditary Breast and Ovarian Cancer Test

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.

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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 individual.