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A significant stride in genomics has been made through the detailed analysis of Indigenous Australians' genomes, as reported by a team of Australian researchers from The Australian National University (ANU). This study, which is the most extensive of its kind to date, has disclosed a multitude of DNA variations, unique to Indigenous Australians, marking a monumental step in developing personalized medical treatments for Aboriginal and Torres Strait Islander peoples.
Unprecedented Genetic Diversity
Dr. Hardip Patel from ANU highlights the uniqueness of this discovery: "The DNA sequencing shows for the first time this level of DNA variation observed anywhere else in the world outside of Africa, reflecting Aboriginal and Torres Strait Islander peoples’ deep cultural and linguistic diversity and long-standing connection to the Australian continent." These findings underscore the genetic diversity among Indigenous Australians. The differences in the DNA between inhabitants of the Tiwi Islands and the Australian desert are likened to comparing dissimilarities in individuals from Bangladesh to the United Kingdom.
Methodology: In-Depth Genomic Analysis
In this groundbreaking research, led by the National Centre for Indigenous Genomics (NCIG) at ANU, scientists scrutinized the DNA of 160 Indigenous Australians from four Aboriginal communities. They employed advanced sequencing techniques to identify over 160,000 structural gene variants—changes that affect large DNA segments and may be linked to genetic diseases. This study stands out for its utilization of long-read DNA sequencing, allowing for a more comprehensive understanding of the genetic makeup of Indigenous Australians.
Tailored Medical Treatments
This research also paves the way for tailored medical treatments for conditions like diabetes, coronary disease, and cancer, which disproportionately affect Indigenous peoples. Associate Professor Azure Hermes, a proud Gimuy Walubara Yidinji woman and deputy director of NCIG, emphasizes the need for bespoke healthcare approaches: "Clinicians must realize treatment options for Indigenous Australians can’t be viewed through a one-model-fits-all lens. We are not a single genetic group and can’t be lumped into one category."
Genomics in Medicine: A Personalized Approach
Genomic medicine, which leverages an individual's genetic information to develop personalized prevention and treatment strategies, is at the forefront of this research. Dr. Ira Deveson from the Garvan Institute of Medical Research elaborates: “We identified more than 160,000 structural gene variants, which is more than any previous population-level, long-read study to date." This highlights the potential of genomics in addressing specific health risks and conditions unique to Indigenous Australians.
Empowering Indigenous Communities
Associate Professor Hermes expands on the project's goal of empowering Indigenous communities in managing their genetic information: "Our goal is to work with and empower Indigenous Australians to take ownership of their genetic information and show them the power of genomics and the health benefits it can deliver." This endeavor, a collaboration between ANU, The University of Melbourne, the Garvan Institute of Medical Research, and other institutions, is also a step towards reconciliation with Indigenous Australians.
The study, published in two papers in Nature, is a testament to the commitment and collaboration with Indigenous communities, following nearly eight years of guidance, consultation, and relationship building. NCIG, hosting a biobank of 7,000 blood samples from 35 Aboriginal communities, is working closely with these communities to determine the best practices for managing and utilizing these samples.
This research not only offers a new direction in personalized medicine for Indigenous Australians but also sets a precedent for respectful and inclusive scientific research, aligning with the priorities and protocols of Indigenous communities.
Original publications:
Silcocks, M., Farlow, A., Hermes, A. et al. Indigenous Australian genomes show deep structure and rich novel variation. Nature (2023). https://doi.org/10.1038/s41586-023-06831-w
Reis, A.L.M., Rapadas, M., Hammond, J.M. et al. The landscape of genomic structural variation in Indigenous Australians. Nature (2023). https://doi.org/10.1038/s41586-023-06842-7