I’ve been told there’s a fault in a gene in our family. What do I do now?

I’ve been told there’s a fault in a gene in our family. What do I do now?

You may have received a “to whom it may concern” letter from a cancer genetics clinic, asking you to contact your doctor. These letters are sent out when a fault in a gene (known as a genetic mutation or pathogenic variant) has been identified in a blood relative.

It does not mean that you will get cancer!

You may carry the same germline mutation found in your blood relative. If you do carry it, it was present long before you were born. These kinds of mutations are passed down from a parent to a child in the egg or the sperm.

Genetic testing doesn’t create a problem. Instead, it lets you know if there is a problem. Then you can take steps to reduce your risk.

And the good news is, if you don't carry the familial mutation, you will usually be at average risk for cancer. You can continue following the general screening advice.

Importantly, if you don't carry the familial mutation, you can't pass it on to your own children.

What should you do now?

You should visit your doctor so that they can organise a referral to a Genetic Oncologist. (GP's can't order this kind of genetic testing.)

This does not mean that you have to have a genetic test. It is a confidential opportunity to find out more about what the particular gene is, what it does and what sorts of problems can arise when it isn’t working properly. If you decide to have blood taken for predictive genetic testing, it is usually Medicare funded.

Note: seeing a Genetic Oncologist does not affect your insurance.

Don't ignore this information! While the risks may be high, they can almost always be reduced if you know what they are.