Confused about genomics? Our Patient Toolkit is here to help.

The Genomics Information Toolkit is a resource to assist patients to engage with and access genetic and genomic health services and testing in Queensland.

In this toolkit, you’ll find information on:

  • What genomics is and how it might help you or your family
  • Where you can go for testing
  • The different kinds of genetic tests that are available


Do you or your child have a rare disease or a family history you are concerned about?

Perhaps you’ve been bouncing between doctors and specialists, trying to find answers.

Not having a diagnosis for you or your child can feel really isolating. You may feel you’re not taken seriously, and it might be difficult to find the support or treatments you need. A consultation with a genetic health specialist could help you find out if your (or your child’s) condition is genetic.

The Genomics Information Toolkit will give you all the information you need to access genetic health services in Queensland.

Your Genomics Toolkit Includes:

Introduction to genetics and genomics

What is genomics? And what is the difference between genetics and genomics in health care?



Searching for a Diagnosis?

This fact sheet will provide useful information to help you access genetic health services.


Your Guide to Genetic and Genomic Tests

To help you understand what some of the many different genetic and genomic tests do.


Clinical Geneticists in Queensland

A list of clinical geneticists working in Queensland through the public and private health systems.


Genetics and genomics for GPs

Take this fact sheet with you to your GP appointment.

“Genomic testing is helping doctors to pinpoint a diagnosis much sooner, particularly for people with very rare diseases. Like many other people around the world, before genomic testing we had eight years of different tests, and driving from Bundaberg to our specialists in Brisbane close to 200 times for our son Dallas.

When his genetic specialist was able to get whole genome sequencing for Dallas, he was then able to diagnose Dallas – with Van Maldergem Syndrome 2. Dallas is one of only 12 people in the world with this condition.

The Genomics Information Toolkit was an idea I suggested in the Queensland Genomics Community Advisory Group – as a way of giving families accurate information about genetic testing, the different kinds of tests, and where to go for genetic and genomic testing in Queensland.”

Gary Hondow, Consumer Advocate and Queensland Genomics Community Group member. 

Gary Hondow, Consumer Advocate

What does a genetic counsellor do?

A Genetic Counsellor is an allied health professional with specialised training in genetics. They can investigate your personal and family health history to better understand your genetic risks. They will also help you decide what genetic testing, if any, is best for you and your family.


Genomics resources for Aboriginal & Torres Strait Islander peoples

Queensland Genomics partnered with QIMR Berghofer to develop resources to support Aboriginal & Torres Strait Islander peoples in accessing genomics and personalised medicine.


Learn more about the work we do