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Personalised medicine for Indigenous Australians a step closer after “remarkable” DNA discovery

Callan Morse -

Personalised treatments to address health inequalities experiences by Aboriginal and Torres Strait Islander peoples are a step closer after the most comprehensive analysis of Indigenous Australians' genomes collected to date revealed an "abundance" of DNA variations within four northern Australian Aboriginal communities.

The discovery, made by a team of Australian researchers led by scientists from the Australian National University (ANU), may explain why some Indigenous families experience genetic diseases more than others and at a greater rate than non-Indigenous peoples.

It's hoped the research will improve health outcomes of First Nations Australians by enabling tailored treatments for a range of conditions - including cancer, diabetes and coronary disease - all of which disproportionately affect Aboriginal peoples compared to the non-Indigenous population.

Led by the National Center for Indigenous Genomics (NCIG) at ANU, research teams examined the DNA of 160 Indigenous Australians from four Aboriginal communities in the Central Desert, Far North Queensland, and two islands off the coast of the Northern Territory.

NCIG deputy director and proud Gimuy Walubara Yidinji woman, Associate Professor Azure Hermes said results of the research are "remarkable".

"Aboriginal people have long said you can't treat us the same because we are so different. Having scientific proof to show this is true is remarkable," Associate Professor Hermes said.

"Clinicians must realise 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."

Through the research, scientists detected hundreds of thousands of structural gene variants that affect large segments of DNA, some of which have never been reported elsewhere in the world.

Australian National University's Dr Hardip Patel said results of the research provides a "new, more accurate, and personalised genomic dataset to build off".

"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," Dr. Patel said.

"Some of the DNA variations we discovered appear to be exclusively found in Indigenous Australians, while others appear to be found only in one out of the four Indigenous communities that we consulted and worked with.

"Previously, we've had to try to utilise the DNA of non-Indigenous populations to help diagnose and treat disease among Indigenous Australians, which has proven difficult and is often less reliable."

The research's results suggested genetic differences between Indigenous Australian communities are significantly greater than between groups from other continents distributed over a comparable geographic range. (Image: Medical Xpress)

Genomics medicine harnesses an individual's genetic information to develop personalised prevention and treatment strategies for a range of health conditions, as well as rare genetic diseases.

Dr Patel said genomics medicine could be an "important piece of the puzzle" to provide better health outcomes for Indigenous Australians.

"The code embedded in our genome is unique to each individual—it's what makes us different to other human beings. Variations within our genetic code can not only explain the way we look but can sometimes impact our risk of developing certain diseases," Dr. Patel said.

"We still don't understand why Aboriginal people are more prone to health conditions such as kidney disease, diabetes, coronary disease, cancer and other conditions. But genomics might be an important piece of the puzzle that helps unlock some of these answers."

Associate Professor Hermes said the project is also about giving Indigenous communities oversight of how their genetic information is used by science.

"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," Associate Professor Hermes said.

"It's taken us almost eight years to get to this point and has only been made possible because of guidance by Indigenous communities, careful consultation, building relationships with communities, and understanding their priorities and protocols."

The National Center for Indigenous Genomics holds a biobank of 7,000 blood samples representative of 35 Indigenous communities across Australia.

The centre is working in collaboration with Indigenous communities to figure out the best ways to care for and return these samples.

"At ANU, we have established a plan for communities to decide the future use and management of these important blood samples and the data that can be generated from them," Associate Professor Hermes said.

"This is an important step toward long-lasting reconciliation with Indigenous Australians."

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