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The role of a GC is to help individuals make informed decisions about their options for genetic testing, interpret test results and communicate the implications of these results for individuals, their immediate and extended family members. GCs work with doctors to help make appropriate recommendations regarding options for ongoing surveillance and management of an increased risk of cancer, either because of the family history or genetic fault.
Genes are like instruction manuals for our body making us who we are. We all have two copies of every single gene (including those genes that protect us from getting cancer); we inherit one copy from each of our parents. When we have children, we pass one of those gene copies to our children and they inherit the other copy of that gene from our partner.
There are several different genes involved in controlling normal cell growth and division, which help prevent cancer from developing. An increased risk of breast or other cancers may occur when a person acquires a fault in both copies of one of these genes.
For most people, cancer is a disease of aging which results from an accumulation of acquired faults in the genes that control our cell growth. These are not “hereditary”, because at birth both gene copies are believed to be functioning appropriately. We acquire faults in both working copies of genes as we age, along with other contributing factors such as our lifestyle and the environment we live in. This transpires over decades; hence the risk of developing cancer increases with age.
A small number of gene faults are thought to be “hereditary”, inherited from the time we are conceived as a fault in one of the two copies of the gene. This can lead to an increased risk for developing associated cancers. For example, inherited faults in genes such as BRCA1 or BRCA2, could increase the risk for developing breast, prostate, ovarian and in some rare cases pancreatic cancers at a younger age. At the same time, these individuals will still have a working copy of that gene protecting them from developing cancer. Therefore, although the risk of developing cancer is higher, not everyone with a gene fault will develop cancer.
There are criteria recommended by the National Cancer Council outlining who should be offered genetic testing in the public system. You can seek more information on this from your local public genetic services. Those who do not meet these criteria may still seek genetic testing privately, with tests costing from $400 – $600 making it more accessible than before.
Genetic testing information may change a treatment plan or help in making surgical management decisions. It is therefore important for those opting for private genetic testing to choose a service provider that has access to a genetic counsellor to help with interpretation of the test result and discuss emotional and practical implications of the result for the patient as well as their family members.
Disclosure: Please note, I have my own private practice, Cancer Genetic Counselling.