Want to know more about genomic testing?

Want to know more about genomic testing?

  • Health professionals you might meet.
  • Genes & genomics.
  • Keeping your genomic information safe.
  • Support.

Health professionals you might meet

When having a genomic test you may be referred to a genetics clinic or sometimes a specialist doctor, like a cardiologist or neurologist, who may suggest you have a genomic test.

 The health professionals you might meet at a genetics clinic are clinical geneticists and genetic counsellors. They have different jobs but both help people with genetic conditions or suspected genetic condition. Both of these professionals offer support to help people with the emotional and practical challenges of living with or being at risk for a genetic condition. They work together to support patients, families and medical teams to manage genetic conditions.

Clinical geneticists are medical doctors who specialise in diagnosing and treating patients with genetic conditions or who have a chance of developing a genetic condition.

Genetic counsellors are allied health practitioners with specialist knowledge in human genetics and counselling.

Genes & genomics

If you have health issues that do not have a clear explanation, your health professional may suggest getting a genomic test. They might also suggest this if there are known genetic conditions in your family history.

A genomic or genetic test looks for changes in your genes that affect how a gene works. These gene changes could be causing your health issues.

Keeping your genomic information safe

Clinical services and laboratories work to keep your genomic information safe. Here are some things that you may want to know about how your genetic information and/or sample is stored.

Genetic information from the test will be kept safe using secure systems that meet Australian and international privacy and security standards, as well as laboratory guidelines. Genetic results are confidential and will be kept in your medical records. They will only be shared outside of the health system with your consent, unless required or permitted by law.

Your data may be used for the purpose of quality control, internal validation, training purposes and test improvement by the laboratory that organises your test.

Once the storage period of the DNA sample has expired (as suggested by industry guidelines), you may ask to have the DNA sample destroyed. Talk to your health professional if you wish to have your DNA sample destroyed earlier.

Your sample may be used for the purpose of quality control, internal validation, training purposes and test improvement by the laboratory that organises your test.

Support

There are a number of places to get support when impacted by a genetic condition.

There is a large network of patient support groups that can help you. The health professionals that are part of your care team can also provide support by directing you to useful services.

Your GP can be a good resource when looking for support. If needed, they can provide mental health plans, referrals to other health professionals and links to national help lines.

You can access patient support groups at any time. Check out the support groups listed below for organisations specific to your state. There are also many social media groups online that bring families who have the same genetic condition together. Ask your health professional for help choosing the right support group for you.

National:

Cancer Council

Rare Voices Australia

SWAN Australia

Genetic Alliance Australia

National Mental Health Support Services:

Lifeline Australia

24/7 Crisis Support.
13 11 14

Queensland:

Support Groups Queensland

Victoria:

Genetic Support Network Victoria

South Australia:

Lived Experience Telephone Support Service

Northern Territory:

Northern Territory Mental Health Line

Western Australia:
New South Wales:

Genetic Alliance Australia

More information on genes and genetics

Genes are like instructions for your body, telling it how to grow and develop. They determine things like your eye colour, your height or your risk for a health condition.

You have around 20,000-25,000 genes, which are made up of something called DNA. All the genetic information that a person has is called their genome.

Your genes act as templates for messages, which cells in your body use to make proteins. These proteins are the building blocks of your body. Only about 1-2% of the genetic information you have is actually used for making proteins.

Each person has many differences in their genes. Most gene changes are harmless and do not impact how the gene works. But sometimes, people have gene changes that affect how a gene works. These gene changes can cause or increase the chance of having a genetic condition. Genetic change (which are differences or changes in a person genes) can be passed down from parents or can appear randomly in a person for the first time.

To identify these changes, a genetic or genomic test needs to be done.

What is the difference between a genetic and a genomic test?

  • A genetic test looks at a single gene or a small number of genes at a time. The test may look for a single gene change or multiple changes.
  • A genomic test looks at many genes, sometimes all 20,000-25,000 genes at once.


The different types of genomic tests are:

  • Genome sequencing looks at most or all a person’s genome to find gene changes.
  • Exome sequencing looks at the most relevant 1-2% of a person’s genome to find gene changes.
  • A gene panel focuses on just the genes that could be related to a person’s health condition.


Your health professional will talk to you about what type of test they will order for you.