Understanding Indigenous DNA

By Owen Cumming 5 June 2024
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Groundbreaking research has identified that levels of genetic diversity among Indigenous Australians may be among the highest in the world.

It’s well known that First Nations people first arrived on the Australian continent more than 65,000 years ago. Since then, landscapes have changed dramatically after an ice age reshaped the land and oceans rose to isolate Australia from its nearest neighbours. At the same time, First Australians dispersed to every corner of the country – from the rugged coastlines to the mountains and the deep central deserts. As they did so, their culture expanded and diversified, changing with the surrounding land as hundreds of languages and unique cultural groups emerged. Alongside that cultural diversification, it seems logical to expect that a prominent genetic diversity developed between groups. And that is exactly what genomic researchers have discovered.

A recent study by the National Centre for Indigenous Genomics (NCIG), based at the Australian National University, in Canberra, analysed genetic samples from four Indigenous communities and its findings challenge long-held assumptions. The study suggests that Indigenous Australians may have some of the highest levels of genetic variance in the world. It’s a discovery that’s not only interesting scientifically, but may have real-world significance in terms of Indigenous health.

Aboriginal Australia, a landscape build on traditional values passed from many generations. The oldest live culture in the world. Red soil, black skin. The Australian outback. Related: Awakening a sleeping language

Indigenous communities have disproportionate occurrences of many serious diseases and it’s hoped that, by exploring and understanding the uniqueness and diversity of Indigenous genetics, researchers can better address these health concerns.

“We have so many people now living with conditions like end-stage kidney disease, cardiovascular disease and diabetes, and we’ve got lots of people dying from cancers that are coming out of nowhere,” says NCIG’s Deputy Director, Associate Professor Azure Hermes, a Gimuy Walubara Yidinji woman from Cairns in far north Queensland (FNQ), and one of the lead researchers on the study.

NCIG Director, and another lead on the study, medical researcher Professor Alex Brown is a member of the Yuin Nation of the New South Wales South Coast, with family connections to Nowra, Wreck Bay and Wallaga Lake. “I think the critical bit from what’s been found in the genomics is that our diversity, our uniqueness, is very strong,” Alex says. “It is similar to the linguistic, cultural and geographical diversity that we see in Aboriginal and Torres Strait Islander communities.”

The project faced significant challenges before it could commence due to the mistrust that years of cultural ignorance had created between medical science and First Nations people, which extended back to the first days of colonisation.

Overcoming mistrust

The strong bonds Traditional Owners developed with their surroundings during thousands of years have been constantly undermined since European colonisation. Early British colonisers, for example, identified Indigenous Australians as living in a state of “savagery”, as opposed to “civilisation”, leading to the assertion of terra nullius, that the continent was unoccupied. If the continent’s Indigenous inhabitants lived a largely nomadic existence, they couldn’t be regarded as having possession of the land they occupied. And if no-one owned it, it was free for the taking.

“Science, division and separatism have been used as a whitewash for the lie of terra nullius,” Alex says. “That historical context bleeds over into the way that science is viewed, trusted and accepted by Indigenous peoples even today…we’ve got to try to build trust in an environment where science has actually been used, not just poorly, but actively against Aboriginal people.”

Indigenous Genomics Patient Journey’. Illustration credit: Brooke Sutton/QIMR Medical Research Institute

Painful examples of medical mistreatment remain fresh in the hearts of many Indigenous communities. Before beginning its study, the NCIG team was given access to a historical collection of 7000 genetic samples collected from 35 different Indigenous communities throughout the 1960s and ’70s. That might seem like a boon for a research group looking at Indigenous DNA, but serious issues emerged regarding how the samples had been obtained.

“We don’t have any documentation to say that informed consent was given for [the collection of] those samples,” Azure says, explaining that without knowledge of the ethics of the collection process, NCIG couldn’t use the historical samples. “You’re starting on the back foot when you’re going to a community and saying, ‘Hey, I’ve got your dad’s sample that was collected from him back in the ’60s; he’s passed away, now I’d really like to talk to you about what to do next.’

“The first general question [asked] is ‘Did you ask permission?’ And then when we say, ‘I don’t know’, it’s: ‘Well, why are you keeping it?’; ‘What have you used it for?’; ‘How long have you had it?’; ‘Can I have it back?’; and ‘What are you doing here now?’”

The mistrust is understandable. Samples taken from the Yarrabah community, east of Cairns in FNQ, for example, were collected by researchers who would lie in wait on a corner and round up children as they walked home from school. “There were no parents [present], there was no consent, and there was no-one in the room to say, ‘No’,” Azure says.

Her team spent eight years working through the trauma of the past with these communities, allowing people to express their anger and grief, and decide if they were willing to put their trust in the NCIG study. The journey of rebuilding trust has been long and arduous, but Azure wouldn’t have it any other way. “I don’t want it to be easier,” she says. “I want to have those conversations because that’s the process. I think people need to feel those things, to be angry and to be upset, and to ask hard questions – and [they need] us to be accountable for what happened all those years ago.”

Azure’s work has allowed the study to happen in a way that fosters empowerment, inclusion and equity for the communities she’s dealing with. By consulting with participants at every stage, and ensuring informed consent was given, the project has empowered Indigenous people to actively take part in research that could benefit their health and wellbeing.

Improving First Nations health

Data gathered from the NCIG study could make an enormous difference to understanding how the genetics of First Nations people influence health. As well as highlighting that there is a great variance in the genetics across the cultures and communities of Indigenous Australians, it’s also clear that much of the variance is found nowhere else.

“It depends on how we measure it, but up to 25 per cent of the genetic variance is unique to Indigenous Australians,” Dr Hardip Patel, the Bioinformatics Lead at NCIG, says. “It’s well known that genomic databases are biased towards Europeans. There is pretty much no information that exists for Indigenous Australians, and that creates a blind spot in our understanding of genomics.”

If the wrong templates are used to build medicines, it runs the risk of driving inequality even further, because medical practices that are not suitable are applied to First Nations people. The NCIG research group viewed it as their job to make sure that what has happened in the past doesn’t occur again. “We started with very a simple goal. We have to create reference genomic databases so that we can start understanding health and clinical implications for Indigenous Australians,” Hardip says.

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The Indigenous communities involved are passionate about and committed to providing a meaningful benefit for future generations, but the question still remains: Will this genomic research actually provide meaningful health outcomes? In short, we don’t know.

“Genomics analysis is a hard problem,” Hardip says. With the diversity demonstrated by a study of just four Indigenous communities, it’s very possible that genomic research will need to include many more communities across Australia before any comprehensive health benefits can be found.

For now, a major outcome of the study has been to demonstrate how research with Indigenous communities can be conducted in a more collaborative and respectful way. “We’ve managed to bring together a good group of collaborators who are working hard to say that this is now the standard that we should be expecting when we do research with Indigenous communities,” Azure says.

Perhaps even more importantly, the study represents a growing empowerment of Indigenous Australians. “The greatest shift has been [with] Aboriginal and Torres Strait Islander people in positions of authority enabling communities to make their own decisions as autonomous agents in their future,” Alex says.

Curiosity, science and research have been integral to how Indigenous Australians have been interacting with their environment for tens of thousands of years, but that has been taken away during the past two centuries. Now there’s a strong move to restore that in a way that not only benefits their health and culture, but also the whole of Australian society.