Genetics and genomics

Genetics and genomics have the potential to reshape how we prevent, diagnose, treat and monitor illness. Find out what we’re doing to develop strategies and policies to both safeguard public health and improve the health of all Australians through gene technologies.

National Gene Technology Scheme

Learn about our national scheme to regulate gene technology in Australia.

Office of the Gene Technology Regulator

Find out how the Gene Technology Regulator manages, and protects against, risks posed by genetically modified organisms (GMOs).

Genomics Health Futures Mission

We fund research into genomic medicine. Learn more about the mission, why it’s important, its goals, who is involved and funding grants that may be available.

Expert Advisory Group on Genomics Australia

Find out about the Expert Advisory Group (EAG) on Genomics Australia.

About genetics and genomics

Advances in medical science help to improve health care in Australia. Gene technology and genomics can give us new testing, diagnosis and treatments for diseases such as cancer and help produce new vaccines and drugs.

Genetics is the study of how genes work and transmit information from parents to offspring. It can help us understand the risk of inheriting a genetic disease.

Genomics is the study and mapping of genomes – the full set of genetic instructions for an organism. It includes both human and other genomes and how these interact with the environment.

Genomics can help doctors:

  • identify and diagnose genetic disorders and rare diseases
  • develop prevention strategies
  • tailor a patient’s treatment.

Researchers used genomics techniques to sequence the SARS-CoV-2 virus genome and this meant COVID-19 vaccines could quickly be developed.

Gene technology involves changing an organism’s genes so that it gains, loses, or changes certain traits. It can be used to:

  • produce new vaccines or medicines
  • develop new ways to diagnose and treat disease.

What we're doing about genetics and genomics

Strategies and frameworks

We develop our policy frameworks through extensive consultation with a wide range of stakeholders, including:

A consistent national approach to genomics policy

Integrating genomics into Australia’s health system will reshape clinical practice to improve health outcomes for Australians.

The policy framework was in place from 2018 to 2021. Built around 5 key priorities, it provided a consistent national approach to coordinate activities and address policy issues and challenges. 

We are working with state and territory health departments to review this framework and develop a new national approach. 

Strategic priorities for microbial genomics

Microbial genomics gives us information about the genomic sequence of pathogens. We use this information to better manage outbreaks and threats from communicable diseases.

The National Microbial Genomics Framework 2019–2022 was the first national strategic document for implementing microbial genomics into the public health system. 

It outlined 5 strategic priorities:

  • standardisation
  • data and technology governance
  • integration into public health
  • access and workforce
  • financing. 

An implementation plan set out the actions we would take to implement the framework. 

A second version of the framework is in its final stages of review. We expect to publish it in late 2024. 

National Model of Consent for Clinical Genomic Testing

The National Model of Consent for Clinical Genomic Testing provides a consistent and standardised approach to the consent process for genomic testing.

The New South Wales Ministry of Health developed it on behalf of the former Australian Health Minister’s Advisory Council Project Reference Group on Health Genomics. 

Resources

Resources

New arrangements for migalastat (Galafold®) for treatment of Fabry Disease

This fact sheet is for current and future patients with Fabry disease explaining how a treatment for this condition, migalastat (Galafold®), will be transitioning from the Life Saving Drugs Program to the PBS. The fact sheet further provides clarity on future access arrangements via the PBS.

Contact

Genetics and genomics contact

Contact us for more information on genetics and genomics, including our strategies and frameworks, specific priorities or projects.