What is genetic testing?
Genetic testing checks your genetic material for any anomalies in genes. These anomalies might be a sign of a genetic condition, or they might mean that you’re more likely to get certain conditions or diseases.
Depending on your situation, genetic testing can:
- make a diagnosis
- rule out certain genetic conditions
- assess your risk of having a genetic condition
- say how likely it is that you’ll pass on a genetic condition
- say how likely it is that a genetic disorder will cause disease
- diagnose genetic anomalies before birth.
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. They also talk with you about what a genetic condition might mean for your family, how likely you or your child are to develop it or pass it on, and how you can manage the condition in your family.
What is a genetic condition?
A genetic condition is caused by changes in the genes. A change in just one gene can cause a serious medical condition or disability. Sometimes one or both parents pass on changed genes to their child. Other times changes happen at or during conception.
There are numerous genetic conditions. Some of the more common genetic conditions include cystic fibrosis, muscular dystrophy, Down syndrome, Fragile X syndrome, neural tube defects, haemochromatosis, haemophilia and Huntington’s disease.
Genetic conditions also include some forms of asthma, diabetes, epilepsy, deafness, intellectual disability, vision impairment, heart disease, cancer, hypothyroidism and short stature.
Genetic testing: what to expect
When you have genetic testing, you usually have to give some blood. This is called a blood sample. It’s also common to give a saliva sample. Very rarely, you’ll be asked to give other samples, like body tissue.
Samples are usually collected quickly, with very little discomfort or pain for you.
Genetic testing usually has 3 phases:
- Collection: you get information about the test, give your consent and have the sample taken.
- Analysis: scientists in a laboratory do tests on the sample.
- Results: your doctor looks at the results and works out what they mean. Your doctor or a genetic counsellor will talk to you about the results.
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 don’t 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.
- A diagnosis from genetic testing might not lead to treatment or improved care, and this might be frustrating or upsetting.
Because of these risks, it’s important that medical professionals fully explain the testing process to you before you consent to it.
Australian genetic testing services
The Human Genetics Society of Australasia has a list of genetic testing services across Australia.
Support for genetic testing
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 after the diagnosis of a genetic condition in your family.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria provides education, advocacy and support to people with genetic conditions and those who support them. They can help you contact genetic counsellors and many support groups across Australia.
Syndromes Without A Name (SWAN) Australia
Syndromes Without A Name (SWAN) Australia provides information and support for families caring for a child with an undiagnosed or rare genetic condition.