Genetic testing

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What is genetic testing?

Genetic testing is the scientific testing of a person’s genes. Genetic testing is usually offered when someone is at a high risk of having inherited a faulty gene, based on a strong family history of cancer or the age at which they are diagnosed.

It is possible to test for some faulty genes that increase the risk of certain cancers. For example, two genes called BRCA1 and BRCA2 are now known to be important in the development of hereditary breast and ovarian cancer.

Where is the testing done?

Only a few Australian laboratories can do genetic testing. Some faulty genes may not be picked up using existing technology. 

Who should be tested?

Genetic testing is only appropriate for a small number of individuals referred to family cancer clinics (see Family cancers). Women aged 70 or under who are diagnosed with ovarian cancer, can also receive genetic testing to look for BRCA1 and BRCA2 gene mutations.

The process involves taking blood from an individual who has a specific cancer. Testing may take considerable time. If the faulty gene causing the cancer is found, testing may be offered to other family members who have no signs of cancer.