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The first large-scale genomics resource designed to improve the representation of culturally and linguistically diverse Australian communities has received a significant boost, thanks to a $10 million grant from the Federal Government’s Medical Research Future Fund. The initiative seeks to improve disease prediction, diagnosis and treatment for Australian communities currently under-represented in genomic medical research. 

The Australian Genetic Diversity Database project, called OurDNA, is the flagship initiative of the Centre for Population Genomics, a collaboration between the Garvan Institute of Medical Research and the Murdoch Children’s Research Institute.

“We thank the Australian Government for supporting this important project to start building tools to help the many Australians not currently represented in genetic databases,” said Professor Peter Croucher, Interim Executive Director of the Garvan.

Existing global databases of genetic variation are highly skewed towards individuals of European ancestry. As a result, many Australian communities are largely or entirely missing from genomic resources, including groups of Oceanian, South-East Asian, South and East Asian, Middle Eastern, and African ancestry. The project aims to collect and then securely and anonymously share with scientists and clinicians the de-identified genetic data from more than 20,000 diverse Australians. 

"We are excited to be working with our colleagues across Australia to create this new resource, which will include at least 7,000 new whole-genome sequences of participants from genomically under-represented groups," said Professor Kathryn North AC, Director of the Murdoch Children’s.

“The need for inclusive representation in genomics is urgent. Many Australian communities are currently missing from global databases of genetic variation. These groups often already experience poorer health outcomes than other Australians, and these disparities will continue to increase unless we ensure that all communities can benefit equitably from genomic medicine,” said Professor Daniel MacArthur, Director of the Centre for Population Genomics at Garvan and Murdoch Children’s, who is leading the initiative. “This project will create a powerful scientific resource that better reflects our country’s remarkable diversity, ensuring more accurate diagnosis and treatment options for all Australians.”

The database will have immediate benefits for the diagnosis of severe genetic diseases, which are often the result of DNA variants rarely found in the general population. Scientists and clinicians need the collective data of many people as a reference to allow them to zoom in on the very rare variants in a patient’s genome that are most likely to cause that individual’s disease. By increasing representation from diverse Australian communities, the new resource will provide more power to identify disease-causing genetic changes not only in patients from those specific communities but also more generally, says Professor MacArthur.

The project will involve deep engagement with community stakeholders in study design before recruitment starts. While the immediate focus will be creating a resource to improve the diagnosis of severe genetic diseases, the project will also provide a foundation for future studies focused on predicting the risk of common disorders such as diabetes and heart disease and identifying new approaches to treating these disorders.

The Centre for Population Genomics will work with multiple academic and industry partners to deliver the program's ambitious goals, including the Federation of Ethnic Communities Councils of Australia, Australian Red Cross Lifeblood, and Australian Genomics to develop approaches for engaging diverse communities across Australia; with Sano Genetics and Sonic Healthcare on gathering informed consent and blood samples from participants; with Illumina on the generation of whole-genome sequencing data; with Google Cloud and Microsoft on platforms for secure, large-scale storage of genomic information; and with the Broad Institute of MIT and Harvard on making the resulting data available in a way that maximises impact on the diagnosis of rare disease patients around the world. 

Australian Genetic Diversity Database collaborators:

Garvan Institute of Medical Research, Murdoch Children’s Research Institute, Australian Genomics, University of Oxford, Australian Institute of Health Innovation, Australian National University, Monash University, Australian Red Cross Lifeblood, University of South Australia, The University of Queensland, Federation of Ethnic Communities' Councils of Australia, University Technology Sydney, King Edward Memorial Hospital for Women, NSW Health Pathology, Pathology Queensland, Children's Hospital at Westmead, SA Pathology, PathWest, Invitae, University of New South Wales, The Sax Institute, Broad Institute of Harvard and MIT and the University of Adelaide.