The creation of a DNA database that more accurately reflects the rich genetic diversity of First Nations Australians will help improve health outcomes for patients, according to experts from The Australian National University (ANU).   

The database will help improve diagnostic rates for First Nations peoples living with rare genetic disorders.  

By providing a timely and accurate diagnosis, patients can seek help early and receive the treatment they need to better manage symptoms and improve their quality of life. 

The researchers will work with eight communities across northern and central Australia with the aim of collecting DNA samples from more than 500 First Nations Australians.  

The project is being led by the Garvan Institute of Medical Research in collaboration with the ANU National Centre for Indigenous Genomics (NCIG), Oxford Nanopore and the National Computational Infrastructure (NCI), which is based at ANU. The work is possible thanks to a Medical Research Futures Fund grant of $986,000, which has been funded by the federal government.  

“First Nations peoples harbour unique genetic diversity that is currently missing from global genomics datasets,” Dr Hardip Patel, who is the bioinformatics lead at NCIG, said.  

“This is a unique opportunity to address this representation gap in genomic datasets to reduce health disparities between Australia’s Indigenous and non-Indigenous communities.” 

The researchers will use Oxford Nanopore Technologies’ long read DNA sequencing platform to determine the genetic blueprints of First Nations Australians.   

Australia’s most powerful supercomputer — which is housed at the National Computational Infrastructure (NCI) at ANU — will be used to identify which genes might contribute to illnesses in First Nations peoples.  

Project leader Dr Ira Deveson, who is the Head of Genomic Technologies at the Garvan Institute, said the hard part of using DNA to diagnose disease isn’t finding these genetic variants – it’s identifying which ones impact health and drive disease.  

“Through collaboration and partnership with Indigenous communities and researchers, this project will help us identify the harmful variants among Australia’s First Nations peoples to ensure they receive the correct diagnosis as soon as possible and can better manage their unique health risks,” Dr Deveson said.  

According to Dr Patel, when someone has a rare genetic illness, their DNA is compared to a “reference dataset” of common genetic variations to rule out harmless ones. 

Reference datasets have grown over many years, with DNA samples collected from people around the world. However, according to preliminary data from NCIG, around a quarter of all genetic variants present in First Nations Australians do not occur anywhere else in the world.  

“For Indigenous Australians with rare genetic illness this means an unwieldly large number of variants remain to be ruled out as normal and harmless,” Dr Patel said. 

“This causes unwarranted delays and an occasional lack of genetic diagnosis for Indigenous Australians compared to people of other ancestry. 

“This project will generate datasets for First Nations peoples to help doctors provide a timely diagnosis to patients and improve health outcomes for them.”  

NCIG Deputy Director Azure Hermes, a proud Gimuy Walubara Yidinji woman, said: “It’s wonderful for the ANU and NCI to combine to support NCIG and its critical mission in this way.  

“We are excited to keep working with the donor communities to bring them the benefits of the genomic data they have entrusted us with.”

Dr Hardip Patel. Photo: Jamie Kidston/ANU

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George Booth

Senior Media and Communications Officer

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