Improving health outcomes for First Nations Australians

Dr Hardip Patel. Photo: Jamie Kidston/ANU - 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.