Genetics Testing

What is Genetic Testing?

Genetic testing can offer an explanation for why people have certain illnesses. Scientists can look at your genes to see if you have familial hypercholesterol (FH) or other genetic conditions which cause high cholesterol. The results make it easier to make a diagnosis, find the right treatment and find others in your family who might have the same condition.

What is Genetic Counselling?

Before you have a genetic test, you should have genetic counselling at a lipid clinic or genetics clinic. A trained genetics counsellor can help you understand:

  • what happens when you have a genetic test
  • what the results might mean for you and your family
  • how having FH may affect you
  • how having FH might affect any children you have, now or in the future

You don’t have to have a genetic test if you don’t want one, and the counsellor can help you decide if it’s right for you.
You can speak to your genetic counsellor about any practical concerns you have too. For example, whether the results could affect life or travel insurance, job applications and mortgage applications, and what you can do about this.

What happens during the test?

To do a genetic test you need to give a sample of blood, saliva or tissue. The sample will then be sent to a laboratory, so that your genes can be looked at in detail.

When will I know the results?

If you are the first person in your family to have a genetic test, it can take time to get your results, for example, around two or three months, or sometimes longer. It’s a complicated test and it can take time to find the gene or parts of the gene involved.
Sometimes a faulty gene can’t be found. Genetic testing can find a faulty gene in about three out of every four people with FH.
If your test finds the gene which is causing your high cholesterol, your specialist will tell you more about what type of FH you have, how it affects your cholesterol level, and the best treatments for you.

They might also ask for your help in finding other close members of your family with FH – this is called cascade testing.
Sometimes a gene alteration will be found but it’s not clear whether it’s harmless or could cause FH. This is called a variant of unknown significance, or VUS. Your specialist will talk to you about what this means for you, and they might want to test other members of your family to find out more.

If no faults or alterations can be found, it could mean that:

  • you don’t have FH
  • you have a fault in one of the genes which is known to cause FH, but it couldn’t be found
  • you have a gene alteration that hasn’t been identified yet.

Your specialist will talk to you about what it means if no genetic cause for your high cholesterol can be found, and how you can bring it under control.

What are the costs involved?

Genetic testing for familial hypercholesterolaemia can have a Medicare rebate provided you have a valid specialist referral. Please speak to your specialist for details on whether this is something you may qualify for.