Populations not currently represented in genetic databases will now have inclusion, thanks to support from the Medical Research Future Fund.
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 $10M grant from the Australian 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 is the flagship initiative of the Centre for Population Genomics, a collaboration between the Garvan Institute of Medical Research and 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," says Professor Peter Croucher, Executive Director (interim) of 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," says Professor Kathryn North AC, Director of the Murdoch Children's Research Institute.
"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," says 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
Director
Prof Daniel MacArthur
Garvan Institute of Medical Research and Murdoch Children's Research Institute
Centre for Population Genomics
Conjoint Professor, University of New South Wales
Garvan Institute of Medical Research
Assoc Prof Jodie Ingles
Prof Joseph Powell
Assoc Prof Sarah Kummerfeld
Dr Ira Deveson
Ms Mary-Anne Young
Murdoch Children's Research Institute
Prof Martin Delatycki
Prof Melissa Wake
Assoc Prof Sebastian Lunke
Dr Danya Vears
Australian Genomics
Mrs Tiffany Boughtwood
University of Melbourne
Assoc Prof Ilias Goranitis
University of Oxford
Prof Julian Savulescu
Australian Institute of Health Innovation
Dr Stephanie Best
Australian National University
Prof Alex Brown
Mrs Azure Hermes
Monash University
Assoc Prof Paul Lacaze
Prof Melissa Southey
Australian Red Cross Lifeblood
Prof David Irving
Dr Rachel Thorpe
Dr Surendra Karki
University of South Australia
Assoc Prof Beben Benyamin
Assoc Prof Sang Hong Lee
The University of Queensland
Prof Naomi Wray
Dr Sonia Shah
Dr Loic Yengo
Federation of Ethnic Communities' Councils of Australia
Ms Mary Ann Geronimo
University Technology Sydney
Assoc Prof Alison McEwen
King Edward Memorial Hospital for Women
Prof Gareth Baynam
NSW Health Pathology
Dr Cliff Meldrum
Pathology Queensland
Mr Ben Lundie
Children's Hospital at Westmead
Prof Bruce Bennetts
SA Pathology
Assoc Prof Karin Kassahn
PathWest
Dr Mark Davis
Invitae
Dr Mona Saleh
University of New South Wales
Prof Edwin Kirk
The Sax Institute
Dr Martin McNamara
Broad Institute of Harvard and MIT
Professor Heidi Rehm
Professor Michael Talkowski
University of Adelaide
Dr Azmeraw Amare
