The Beacon December FY22

Associate Professor Yoland Antill

WHAT DOES A GENETIC TEST INVOLVE? You may need a referral from your doctor to a family cancer clinic and have the choice to see a genetic counsellor, geneticist or genetic oncologist. Some people with breast cancer have genetic testing arranged by their own specialists. You will need to provide information about your own and your family’s medical history and have blood taken for the genetic testing. This will then be screened for the most common breast cancer genes. IF THE TEST IS ‘POSITIVE’, WHAT DOES THAT MEAN? A positive test result is referred to as a ‘ pathogenic variant found in the gene ’. This means there is a genetic change in the gene that alters its function. If the test has been done by, for example, a breast surgeon, you will be referred to a family cancer clinic for genetic counselling. If the test was done through a family cancer clinic, they will offer counselling. Counselling includes explaining the gene type and related risk of breast cancer, which differs depending on the gene.


ARE THERE WAITING LISTS FOR GENETIC TESTING? Waiting times for genetic testing vary in each state. They depend on the individual’s risk and the health system’s capacity to deliver the service. Tests for people considered to have a higher risk of developing breast cancer will generally be prioritised over someone who has a much lower risk profile. WHAT DOES THE FUTURE HOLD FOR GENETIC TESTING? Clinical trials are underway to explore what is known as polygenic risk. Looking at this polygenic risk assessment alongside single gene changes might give us an even more tailored understanding of an individual’s cancer risk but also for people in families where there are no identified genetic changes. It might provide more tailored understanding of risk for individuals to be able to plan how they’d like to manage that risk. For more information, listen to Yoland discuss this topic in the Upfront about breast cancer podcast episode Breast cancer, genes and family. Read more about genetics and the risk of breast cancer in BCNA’s My Journey.

OF GETTING BREAST CANCER? Genetic counselling will include your options. These may be to: • u ndertake higher surveillance to improve the chances of early detection • consider preventative treatment, such as hormone-blocking therapy or risk-reducing surgery. You will also be counselled regarding risk factors for related cancer types and how these might be managed in terms of screening or prevention. HOW HAS GENETIC TESTING CHANGED? consuming. Now improvements in technology mean multiple genes can be tested at once and the test is much more widely available and affordable. The risks of cancers may be In the past, gene testing was very expensive and very time dependent on how many people have been affected in your family and the gene in which the variant has been identified. This might range from a moderate to a high risk. The age at which risk starts to increase might also be dependent on which gene is involved and your family history.

Issue 93 | December 2022


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