FAQ
- Genetic testing looks for a change, also known as a fault or mutation, in your genes.
- We have many genes that protect us from developing cancer, known as ‘cancer protection genes’. If a gene fault is present in a cancer protection gene, this can stop the gene from working and can cause an increased risk of cancer in your family.
- Genetic testing can clarify your cancer risk. This information can then guide screening to enable early diagnosis of cancer and improve treatment outcomes. Genetic testing may also be useful for informing cancer treatment (such as the most appropriate surgery for breast cancer or whether targeted therapy may be helpful).
- Genetic testing is usually performed on a blood sample and may test one or several (a panel of) genes. The recommended test will be tailored to the cancers seen in your family.
Cancer is common and most cancers occur as part of the aging process, due to environmental and lifestyle factors or by chance.
Around 5-10% of cancers are caused by an inherited gene fault in a cancer protection gene. If a gene fault is present, it can be passed from parent to child. Having an inherited cause for cancer does not mean you will develop cancer, but you may have an increased risk. We can discuss the ways to reduce your risk.
Genetic testing may be recommended if you have an increased chance of having an inherited gene fault. This depends on various factors and will be assessed during your appointment.
Clues you may have an inherited cancer risk:
- Multiple family members (on the same side of the family) with the same cancer or cancers that are genetically related (e.g. breast and ovarian cancer or bowel and uterine cancer)
- If cancer was diagnosed at an early age (<50 years)
- If you have a certain type of cancer (such as triple negative breast cancer, high grade ovarian, fallopian tube or peritoneal cancer)
- You or a family member have been diagnosed with more than one cancer (such as two breast cancers or a breast and ovarian cancer in the same person).
- Certain types of rare cancers (such as male breast cancer, medullary thyroid cancer)
- Multiple (>20) or rare polyps
- Ashkenazi Jewish ancestry
Genetic testing is available for multiple types of cancer, including breast, ovarian, bowel, uterine (endometrial), melanoma, pancreatic, prostate, kidney cancer and sarcoma. Other conditions for which testing is available include multiple (>20) or rare polyps and endocrine tumours (such as phaeochromocytoma or paraganglioma).
If you are concerned about your personal or family history of cancer a consultation may help.
- Ask your doctor for a referral.
- Please send your referral by email or fax.
- An appointment can be made by email or phone.
Appointments are conducted in person or by Telehealth (videoconferencing) or phone. You can connect to a Telehealth appointment using your phone, computer or tablet.
Urgent appointments are available.
Medicare funding is available for genetic testing in certain circumstances, including:
- Breast and ovarian cancer genes: for people with a history of breast, ovarian, fallopian tube or peritoneal cancer and a >10% chance of a mutation (gene fault) in the breast and ovarian cancer genes.
- Bowel/uterine cancer (Lynch syndrome) genes: for people with colorectal or endometrial cancer with abnormal immunohistochemistry staining of the Lynch syndrome gene proteins on the tumour or a person with endometrial cancer and a >10% chance of a mutation (gene fault) in the Lynch syndrome genes.
- Polyp genes: a person with multiple (>20) polyps or rare polyps
- A person with a gene fault identified in their family.
The likelihood of a mutation being present depends on the age of cancer diagnosis, the type of cancer and the family history. This will be assessed during your appointment.
The BRCA1 and BRCA2 genes are genes that are important for protecting against cancers. These genes protect against breast and ovarian cancer for women and prostate and male breast cancer for men. We all have two copies of each gene, one copy you inherited from your mother and one copy from your father. A fault in either of these genes can cause an increased risk of cancer.
If your genetic testing is not covered by Medicare, the cost will depend on the genetic test ordered. The cost ranges from $300 to $1500. Generally, testing for multiple genes associated with breast cancer will be $399. The cost of testing will be billed separately by the genetic testing company. If there is a cost for testing this will be discussed and your consent will be obtained before proceeding. There is no obligation to have testing.
Test results are usually available 4-6 weeks from the day your blood sample is taken. Urgent testing can be arranged if required.
The majority of people who have genetic testing will have a normal test result (a gene fault is not detected). This information can be reassuring for you and your family.
If a gene fault is found, this can be distressing, however, this can provide valuable information about the risk of cancer for you and your family. Recommendations can then be made to try to detect cancer early or prevent cancer from occurring.
If you have a fault in a cancer protection gene, there is (generally) a 50% (or 1 in 2) chance your children and siblings may have inherited the same gene fault. Genetic testing will then be available for your adult relatives to clarify whether or not they have inherited the gene fault and may be at increased risk. If they have not inherited the gene fault they will (generally) not be at increased risk.
Cancer screening is very important to pick up a cancer early, the earlier a cancer is detected the better the chance of effective treatment.
For people with an increased risk of cancer, cancer screening can start at an earlier age and be repeated more frequently. For people at high risk for certain types of cancer, such as ovarian cancer, preventative surgery may be considered.
The initial appointment is $450 (out-of-pocket cost is $210 if eligible for Medicare) and the follow-up appointment is $200 (out-of-pocket cost $80).
- Genetic testing results are not taken into account for private health cover. If you already have a cancer diagnosis and are applying for life insurance products (such as income protection or permanent disability) you will need to disclose your cancer diagnosis and any results from genetic testing. The results of genetic testing are less likely to have an impact on your cover than your cancer diagnosis.
- Your family members are not required to disclose your genetic testing results when they apply for life insurance products. However, they may be asked to provide family history information for their first-degree relatives, including any cancer diagnoses.
- Further information can be found here:
https://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-20-life-insurance-products-and-genetic-testing-in-australia - You may wish to seek advice from a financial planner.