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Genetic testing looks for abnormalities or changes in the genes. These changes can cause genetic conditions. If there’s the chance that you, your partner or your children might have these kinds of genetic changes, doctors might recommend genetic testing. 

What is genetic testing?

Genetic testing checks your genetic material to look for any abnormalities in genes that might make you more likely to get certain conditions or diseases.

Depending on your situation, genetic testing can: 

  • make a diagnosis
  • assess your risk of having a genetic condition
  • say how likely it is that you’ll pass on genetic conditions caused by genetic changes
  • clarify your genetic status – for example, if there’s a genetic condition in your family
  • say how likely it is that a genetic disorder will cause disease 
  • diagnose genetic abnormalities before birth. 

What is a genetic condition?
A genetic condition is caused by changes in the genes. A change or mistake in just one gene can cause a serious medical condition or disability. Sometimes one or both parents pass on changed or abnormal genes to their child. Other times changes happen in a baby’s genes at or during conception.

Genetic disorders include cystic fibrosis, muscular dystrophies, Down syndrome, Fragile X syndrome, neural tube defects, haemochromatosis, haemophilia and Huntington disease, as well as some forms of diabetes, epilepsy, hearing impairment, intellectual disability, vision impairment, asthma, heart disease, cancer, hypothyroidism and short stature syndromes.

Genetic testing is different from genetic counselling. Genetic counselling is mainly about communication, education and support. During genetic counselling, a counsellor explains the genetic condition you’re concerned about, along with what it might mean for your family, the probability of developing it or passing it on, and how you can deal with this situation. 

Genetic testing: what to expect 

A genetic test usually consists of taking a blood sample. Sometimes samples are also taken of other body fluids like saliva, or of body tissue.

Genetic testing usually has three phases.

  1. Collection: you get information about the test, give your consent and have the sample taken.
  2. Analysis: scientists in a laboratory do tests on the sample.
  3. Results: your doctor looks at the results, works out what they mean and talks to you about it.

Risks of genetic testing

Although genetic testing can help you a lot, it does have risks. These include the following:

  • You might need to ask relatives for information they might not want to give, or genetic testing might reveal something unwelcome about a close relative.
  • Genetic testing might reveal unwanted information about paternity or adoption.
  • Genetic testing can make you anxious, especially while you’re waiting for results.
  • If the results of genetic testing aren’t definite or clear, it might be upsetting for you.
  • The results of genetic testing might affect your medical or life insurance policies.

Australian genetic testing services 

Centre for Genetics Education
The Centre has a comprehensive list of genetic testing services across Australia. You can find your local service by contacting the Centre:

Royal North Shore Hospital Community Health Centre
Level 5, 2c Herbert Street
St Leonards NSW 2065
Phone: (02) 9462 9599

Support for genetic testing

The diagnosis of a genetic condition can place a lot of pressure on a family. You can get support through the organisations listed below.

Genetic Alliance Australia
Genetic Alliance Australia, formerly Association of Genetic Support of Australasia, can give you information and support. Contact Genetic Alliance Australia:

Garvan Institute of Medical Research L6
384 Victoria Street
Darlinghurst NSW 2010
Phone: (02) 9295 8359

Genetic Support Network of Victoria
The Genetic Support Network of Victoria can help you contact many support groups across Australia. Contact the Network:

Royal Children’s Hospital
Flemington Rd
Parkville VIC 3052
Phone: (03) 8341 6305

Genetic and Rare Diseases Network (GaRDN)
GaRDN can give you information and support. Contact GaRDN:

Suite 7, Oasis Lotteries House
37 Hampden Road
Nedlands WA 6009
Phone: (08) 9485 8999

  • Last updated or reviewed 18-11-2015
  • Acknowledgements This article was developed with funding from the NSW Department of Ageing, Disability and Home Care.