The first step for the genetics department is to confirm that there is a faulty gene in your family. If you have a relative who has already had genetic testing, the geneticist will want to see a copy of the relative’s genetic report from the centre where they had their test.

The doctor or the genetic counsellor will go through your family tree with you to identify who is at risk of inheriting the faulty gene in your family. The faulty gene would have been present in your family for many generations; it is not new within your family. It is only in recent years however, that technology has allowed us to identify who actually carries a faulty gene.

In most families it is easy to predict if the faulty gene came down through your mother’s or your father’s family because of the family history of breast, ovarian and some other rarer cancers. The only way to prove it however, is to test family members to see who has the faulty gene.

At your first appointment the doctor or counsellor will explain what the faulty gene is, how it is inherited, the associated cancer risks, and your risk of having the faulty gene along with your options for cancer screening or risk-reducing options. They will also discuss whether or not you want to have a test at this point in your life and how a positive or negative result may impact on your life and on relationships within the family. If you decide to have the test, results are given some weeks later at another appointment (usually face-to-face).