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Genetic testing

6-minute read

What is genetic testing?

Genetic testing can give you important information if you are planning a family or if you, or someone you care for, has a genetic disorder. But before you start, there are plenty of issues for you to think about, including where to turn if you choose to do a test.

When might I think about genetic testing?

You might think about genetic testing if:

  • you have a newborn baby — a simple blood test can detect some rare genetic conditions
  • you are early in pregnancy — non-invasive prenatal testing can determine the chance your baby has a genetic condition like Down’s syndrome. Genetic carrier screening can also be done which tests for a wider variety of genetic conditions, including cystic fibrosis, Fragile X syndrome and spinal muscular atrophy (the cost of this testing is not currently covered by Medicare).
  • there is a condition that runs in your family, and you're worried that you or your children will develop it
  • you have a child who is severely affected by problems with their growth, their development or their health
  • you and your partner are related by blood
  • you or your partner have been exposed to chemicals, drugs or radiation that could cause genetic abnormalities

What does a genetic test look for?

Genetic tests all look for variations from what genes should normally look like. There are many variations found in genes, and only some of them are important.

The testing is only the first part. The important part is understanding what the test results mean. For that, you should talk to a doctor or genetic counsellor.

How is the test taken?

Most genetic tests are blood tests. It is also possible to do tests on a sample taken from the inside of your mouth (known as a buccal smear) or from your saliva. These are easy and safe.

If you're pregnant, prenatal testing may include a blood test, chorionic villus sampling (CVS) or amniocentesis. Visit Pregnancy, Birth and Baby website for more information on prenatal screening.

It's also possible to order tests online without seeing a doctor. This is not a good idea. The National Health and Medical Research Council warns people to be cautious of this.

How much do genetic tests cost?

The cost varies enormously. Before you start, ask your doctor or genetic counsellor how much the tests cost and whether or not you're covered at all by Medicare. Tests ordered online are not covered by Medicare.

What are the benefits of genetic testing?

The main benefit is knowledge: if you have a genetic test, you can get advice about what that test means. If you have a condition that might have a genetic basis, you will understand it more clearly.

If you're having a baby, it helps you plan how to handle the pregnancy and birth and the life that follows. It can also help if you're wondering about having a termination.

For some people, testing can get rid of some of the uncertainty around their health, for example, fears they may be a genetic carrier of a particular disorder.

If you feel well but are worried about having a condition that runs in your family, genetic testing can prompt you into action to reduce your chances of getting ill, whether that's through diet and exercise or through screening for a certain condition.

What are the risks of genetic testing?

Some people face discrimination at work if they are known to have a genetic mutation.

If you have any genetic tests, you will probably need to declare them for any life insurance or income protection. If the tests identify a gene variant that increases your risk of disease, that might make it hard or impossible for you to get insurance.

Some of the companies that you can order tests from online are based overseas. They might be less careful about privacy than Australian companies. Some overseas companies sell information about genetic tests to others. Ordering tests from these companies has a risk that your private information could become available to others.

Is genetic testing always accurate?

Genetic testing is not always accurate. If you find that you have a variation to a gene, that gives a clue. But it doesn't tell you how much you will affected by the abnormal gene. Some people will be severely affected by an abnormal gene, while another will not be affected too much at all.

Also, testing for genes is complex and it can be hard to tell what minor changes in a gene mean. It is likely that some of the testing done by companies offering their services online will be inaccurate.

Before having a genetic test

Should I have a genetic test?

That decision is entirely up to you. There is no right or wrong answer. Talk to family and friends you trust. You can talk to your doctor or to a genetic counsellor. Take your time.

Talk to a doctor or genetic counsellor

It's best to see your doctor or a genetic counsellor if you're thinking about having a test. That way, you can talk through the implications of having the test. And if you go ahead with it, you can get some good advice about what the results mean.

Talk to your family about genetic testing

If you have a genetic test, you might find out things you wanted to find out, but you might also find out things you didn't want to know. Your relatives might want to know everything, or they might want to know nothing.

The best way is to talk to them before you have any test, so you understand their point of view.

Resources and support

About genetic disorders

Visit our 'Guide to genetics disorders' to learn more about genetic disorders and where to go for help.

Learn more here about the development and quality assurance of healthdirect content.

Last reviewed: July 2020

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