Australian Genomics

30/06/2025

After a decade of collaboration and innovation, Australian Genomics has come to an end. However, our website will remain live for an interim period during which our genomic tools and resources can be accessed for public use.

A new national body, Genomics Australia, was established on 1 July 2025 to provide leadership, coordination and expertise in health genomics.

Genomics Australia is located within the Australian Government Department of Health, Disability and Ageing. All enquiries can be directed to https://www.health.gov.au/our-work/genomics-australia.


https://www.australiangenomics.org.au/

Australian Genomics research focuses on 24 priority projects and activities. These projects address strategic priorities across the entire value chain of genomic research and health system translation.

14/05/2025

📣 𝐍𝐞𝐰 𝐜𝐮𝐥𝐭𝐮𝐫𝐚𝐥𝐥𝐲 𝐚𝐩𝐩𝐫𝐨𝐩𝐫𝐢𝐚𝐭𝐞 𝐫𝐞𝐬𝐨𝐮𝐫𝐜𝐞𝐬 𝐞𝐱𝐩𝐚𝐧𝐝 𝐚𝐜𝐜𝐞𝐬𝐬 𝐭𝐨 𝐛𝐞𝐧𝐞𝐟𝐢𝐭𝐬 𝐟𝐨𝐫 𝐠𝐞𝐧𝐞𝐭𝐢𝐜𝐬 𝐚𝐧𝐝 𝐠𝐞𝐧𝐨𝐦𝐢𝐜𝐬 🧬

Longstanding calls from Aboriginal and Torres Strait Islander communities for culturally grounded information about and has led to a ground-breaking suite of resources from the National Centre for Indigenous Genomics (NCIG) at the Australian National University.

Launched today by NCIG and supported by Australian Genomics the materials will help people seeking to understand genetic conditions, genetic testing and genomics research, and to navigate the sometimes-complex pathways to these.

Their release comes amid heightened awareness internationally of the need to improve equity of access to the benefits of genetics and genomics, particularly for First Nations peoples.

The resources include storytelling through animations, plain language definitions, interviews with genetic counsellors, a map of genetic services nationally, and other materials that reflect community voice, values and knowledge. They will be translated into five Indigenous languages.

📌 Read more here: https://www.australiangenomics.org.au/culturally-appropriate-resources-expand-access-to-benefits-of-genetics-and-genomics/

📌 Take a look at the resources here: https://ncig.anu.edu.au/resources



National Centre for Indigenous Genomics | Genomics | The Australian National University | Australian Alliance for Indigenous Genomics | The Kids Research Institute Australia

Thanks to the following partner communities that have helped shape the design and delivery of this work: Victorian Aboriginal Community Controlled Health Organisation Inc (VACCHO); Gurriny Yealamucka Health Services Aboriginal Corporation, Yarrabah (Queensland); Yalu Aboriginal Corporation, Galiwin’ku (Northern Territory); the Machado Joseph Disease Foundation, from Groote Eylandt (supporting work across the Northern Territory and Queensland); and members of a genomic advisory group from the Tiwi Islands.

Longstanding calls from Aboriginal and Torres Strait Islander communities for culturally grounded information about genetics and genomics has led to a ground-breaking suite of resources from the National Centre for Indigenous Genomics (NCIG) at the Australian National University. Launched recently b...

23/01/2025

Informed consent is a critical component of genomic and genetic testing. It is a process whereby a patient agrees to undergo genomic testing in full knowledge of the potential risks, benefits and outcomes.

It is therefore essential that they are given clear and transparent information to support their decision.

A new interactive online tool developed by provides easy and accessible information in bite-sized chunks to guide patients through the key concepts of genomic testing.

It is designed to complement the updated genetic and genomic clinical consent package released by Australian Genomics early last year.

“These consent materials are among the most popular resources we have produced,” said Project Lead Professor Julie McGaughran.

“This is another step forward in our work to provide accurate and engaging material to help people better understand the often-complex process of genomic testing.”

The tool is designed to provide key details upfront and then options for users to explore more information based on their interests.

📌 Access the tool: https://genomictesting.australiangenomics.org.au/

📌 Access the updated genetic and genomic clinical consent package: https://www.australiangenomics.org.au/tools-and-resources/national-clinical-consent-forms/

28/11/2024

Wonderful that The Science Within Us has officially launched.

This ground-breaking genetic education resource for Australian primary and secondary students aims to improve genetic literacy and understanding of real-world application of genetics through powerful human stories.

Read more below ⬇️

A new approach to a transformative science: Connecting genomic concepts to everyday life.The Science Within Us is a digital program that can dovetail with ex...

20/11/2024

Almost one in 50 couples is at “increased chance” of having children with one or more of 750 severe genetic conditions, the final report into the ground-breaking Mackenzie’s Mission study has found.

The findings, published in The New England Journal of Medicine, are from one of the world’s largest studies into reproductive genetic carrier screening at population level.

Mackenzie’s Mission tested 9107 couples across Australia to see if they carried genetic variants that meant they had a one-in-four chance of having children with one or more of the 750 severe genetic conditions screened.

Of those couples 1.9 per cent were found to be carriers, three quarters of whom used that information to inform their decisions about having children, including using IVF and selecting embryos unaffected by the genetic condition.

The study was named after Mackenzie Casella, the daughter of Rachael and Jonathan Casella, who died of spinal muscular atrophy at seven months old.

The project, administered by Australian Genomics and funded by the Federal Government’s Genomics Health Futures Mission, set out to find answers to the challenges involved in setting up a national government-funded carrier screening program.

These included how best to offer it at population level, which genes to include, how laboratories report results, how couples respond once they learn they are carriers, and costs.

The study leads were Professor Martin Delatycki AM (Victorian Clinical Genetics Services (VCGS), Murdoch Children's Research Institute - MCRI, Emeritus Professor Nigel Laing AO (Harry Perkins Institute of Medical Research, Laboratory Medicine WA and The University of Western Australia) and Professor Edwin Kirk AM (NSW Health Pathology, UNSW, Sydney Children's Hospitals Network).

Read more on the Australian Genomics website: https://www.australiangenomics.org.au/national-studys-findings-support-genetic-carrier-screening-for-australian-couples-wanting-children/

Read the abstract: https://www.nejm.org/doi/full/10.1056/NEJMoa2314768

Learn more about the Mackenzie’s Mission study: https://www.australiangenomics.org.au/research/mackenzies-mission/

11/11/2024

We’re thrilled to have Dr Euan Ashley from Stanford University in the US present “The Genome Odyssey” at our next DNA dialogue seminar on Thursday 5 December at 9am (AEDT).

In The Genome Odyssey, Euan brings the breakthroughs of precision medicine to life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease.

Euan is Chair of the Department of Medicine at Stanford University, where he is the founding director of the Clinical Genomics Program, the Centre for Inherited Cardiovascular Disease, and the Catalyst Program for biomedical innovation.

Learn more & register here: https://mcri.zoom.us/webinar/register/8516829003442/WN_7l_x9w3cQwuFAR7iN4jlGQ

03/10/2024

Be at the genomics conversation on Thursday 24 October at 9am (AEDT) for an exciting DNA dialogue seminar!

Dr Catalina Lopez-Correa, Chief Scientific Officer at Genome Canada will present “Making genomics equitable and accessible around the globe”.

Genomics has transformed healthcare and science, offering groundbreaking solutions to some of the world’s toughest challenges.

Yet, to unlock its full potential, we must address significant gaps in diversity and inclusion, ensuring equitable access and representation for all communities worldwide.

Learn more & register here: https://mcri.zoom.us/webinar/register/8516829003442/WN_RYOUOJBrR3WZknSekjlbGw

Genome Canada

17/09/2024

Welcome to GA4GH 12th Plenary! This week, we are gathering to advance responsible sharing of genomic and related health data, for the benefit of human health. Global collaboration is vital to our efforts, and GA4GH 12th Plenary is a hybrid conference. Learn how you can participate this week, from wherever you are located.

On 16 and 17 September, Connect working sessions will held to progress GA4GH product development. Join the conversation virtually: https://bit.ly/3XqlgSq

On 18 and 19 September, we will host a series of Plenary talks on topics such as Indigenous genomics, emerging technologies, and clinical implementation of genomics. Tune in to our public livestream from the GA4GH YouTube channel: https://bit.ly/3B2PjId

On 20 September, the National Initiatives Forum (NIF) will convene projects that are tackling genomic data sharing at scale. Sign up to attend the meeting virtually: https://bit.ly/3XI1F1o

19/08/2024

Four weeks until the GA4GH 12th Plenary takes place in Melbourne from 16 – 20 September!

Co-hosted by the Global Alliance for Genomics and Health (GA4GH) and Australian Genomics, this year’s meeting will dive into topics including Indigenous genomics, AI in genomics, new frontiers in clinical implementation of genomics, and more.

On 17 September, an evening welcome reception will offer an opportunity for networking with attendees, and to see native Australian wildlife. Wild Action is a leading organisation in sustainable wildlife education and will join us onsite at the Park Hyatt.

To view the full program and more information, please visit bit.ly/12plenary

24/07/2024

Involve Australia is looking for genomic research projects to pilot their new "Guidelines for Community Involvement in Genomic Research'. These guidelines aim to help researchers better involve consumers and the community in their work.

These guidelines were released in late 2023. We would now like to understand whether they meet the needs of researchers and community members and improve researcher-community partnerships and research as a result.

If you and your research team are interested in participating in a pilot program please contact Involve Australia Coordinator, Keri Finlay at [email protected].

Learn more about the Involve Australia project and access the Guidelines here: https://www.australiangenomics.org.au/projects/involve-australia-public-involvement-in-genomic-research/

23/07/2024

Join Australian Genomics’ next seminar “The importance of genetic counselling research” on Thursday 29 August at 9am (AEST), featuring Dr Jehannine (J9) Austin from the University of British Columbia in Canada.

In this presentation, J9 will discuss the importance of working as a community to develop and consolidate the recognition of genetic counselling research as a rigorous area of academic study. J9 will also explore how, to do this effectively, we need to understand what constitutes “genetic counselling research”.

Learn more and register here: https://mcri.zoom.us/webinar/register/8516829003442/WN_FmRMbFbnRYacjiE68mfwRQ

13/06/2024

Have you seen the Involve Australia recommendations for health and medical research institutes and funders?

We’ve released a set of practical recommendations to help institutes and funders actively support researcher and community partnerships. It’s about making health research more inclusive and impactful for all Australians.

We've summarised them here, but you can view the full set of recommendations on our website: https://www.australiangenomics.org.au/projects/involve-australia-public-involvement-in-genomic-research/