A family chart in five generations

Genetic testing in Australian medicine

Genetic testing means a laboratory looking at your genes for DNA changes that can cause health problems, or that make some diseases more likely, as healthdirect describes it. healthdirect calls the test only the first part: what matters is understanding the result, and for that it points you to a doctor or a genetic counsellor.

This guide, published by Dotto, follows that medical path in five parts, from what a test looks for to what a result can mean for the people you are related to.

General information, not medical advice. Call Triple Zero (000) in an emergency, or go to the emergency department of your nearest hospital. The official consumer page to check is healthdirect’s page on genetic testing.

The chart

Five generations, five guides

The drawing is set like a family tree in a medical file: squares and circles, joined by lines, one row for each generation. Each row is one guide, read from the top down, and on every guide its own row is filled in green.

Drawn for this site. It shows no real family.

I
What genetic testing is
Genes and mutations, what a laboratory looks for, how a sample is taken and how a test is ordered.
II
Types of genetic test
Diagnostic tests, carrier screening, newborn testing and tests for future risk, each in the words of the page that describes it.
III
Genetic counselling
Who gives it, who it is for, consent, and why understanding a result matters more than the test.
IV
Medicare and genetic tests
When Medicare pays towards a test, the carrier testing rebates, and tests bought online.
V
Results and your family
Why a result can reach relatives, what a positive result does and does not mean, and carrier results.

Key facts

Five points from healthdirect

A genetic test can give you information that may bear on decisions about your health and the way you live.
You may consider testing if you are planning a pregnancy or are pregnant, if you have been diagnosed with cancer, or if you are worried that you or someone in your family carries an inherited condition.
Genetic counsellors can offer advice and support while you are thinking about a test.
Before you are tested, it is important to think through what a result would mean for you and for your family.
Genetic tests are usually done at special laboratories, and most of them are blood tests.

Test routes

Through a doctor, or online

There are two ways to get a genetic test. healthdirect notes that tests can be ordered online without seeing a doctor, and passes on a warning to be careful about doing so. Some of those online sellers are based overseas, healthdirect says, and may take less care with privacy than Australian companies, so your private information could end up with others. This site follows the other route, the one that goes through a doctor.

If you are thinking about having a test, healthdirect says it is best to see your doctor or a genetic counsellor.

Health system

Genomics across the health system

The federal health department describes genomics as the study and mapping of genomes, meaning an organism’s full set of genetic instructions. It says Australian governments will work together under the National Health Genomics Policy Framework and Implementation Plan 2026–30 to build genomics further into the health system. It also points to a National Model of Consent for Clinical Genomic Testing, which gives a consistent approach to consent for genomic tests. Genetic counselling explains where consent sits.