Our DNA contains crucial health insights – if you know where to look. Now the rise of AI is set to turbo charge personalised medicine. But are we ready for the “age of miracles”?
Our DNA contains crucial health insights – if you know where to look. Now the rise of AI is set to turbo charge personalised medicine. But are we ready for the “age of miracles”?
Artificial intelligence is set to turbo charge personalised medicine, but experts say Australia must make critical investments or risk missing out on the benefits of health’s new era.
Genomic healthcare uses a patient’s unique DNA to help guide clinical decisions, but AI’s growth brings new challenges for existing infrastructure, technology, regulations and health systems.
Industry Genomics Network Alliance chief executiveDr Erin Evans said genomics was about delivering truly “individualised” care, from diagnosis to treatment but also prevention.
“Our vision is very much that genomics is mainstreamed into clinical care,” she said.
“I think it’s not a question of if we should do this, but how quickly.
“It feels like we’re living in an age of miracles really.
“We’re moving from a one-size fits all healthcare system towards data-informed precision care that genomics and AI can deliver.”
She said artificial intelligence, which can process data far quicker than humans but also pick up things we miss, was significant for genomics, which “generates vast amounts of data”.
“AI is incredible at pattern finding,” she said.
Professor Daniel MacArthur said we can access an incredible amount of information about our DNA, but analysing it can be challenging.
Professor Daniel MacArthur is the director of the Centre for Population Genomics, a joint venture between Murdoch Children’s Research Institute and Garvan Institute of Medical Research.
He said it once took a 10-year, billion dollar-plus global effort to sequence the human genome, but it’s now routine clinical practice when diagnosing a child with a severe genetic condition.
“Nowdays it takes just a few hundred dollars and … a few days,” he said.
“The challenge now is not how do we get information about a person and their health, but how do we make sense of it all.
“Every single one of us is walking around with three to five million positions in our DNA that are different from other people around us.
“In a patient with a severe genetic disease, we’re just looking for the one or two individual changes that are actually responsible.”
He said finding the change, and then assessing if it is likely disease causing — most changes in our DNA don’t affect our health — requires significant research and data analysis.
“It is very labour intensive and doesn’t scale,” he said.
He said this was just one example of where an AI tool — which can quickly analyse data to suggest starting points for a human — could advance genomics.
“We’re still very much on the on the foothills of what will be an incredibly rapid exponential change in our ability to make sense of lots and lots of data,” he said.
About one in ten people have a genetic disorder.
Monash Health Interim Head of Clinical Genetics Dr Andrew Fennell said genetic services’ waitlists are lengthy but AI could help them reach more people.
“About one in 10 people have an identifiable or likely to be identifiable genetic disorder, whether they know it or not,” he said.
“A lot of these will be hidden and might only present later in life, whether it’s Alzheimer’s or Parkinson’s or cancer predispositions.”
He said AI tools could one day process the extremely detailed health information his team analyses – an incredibly time-consuming process – to identify where they should focus a patient’s genetic testing.
“We think we’re very good at it [the analysis], but in many ways the AI can do a lot of that very well, in some ways better,” he said.
“AI will probably in the long term, will take over some elements of what we do in medicine from a diagnostics point of view, and then we’ll focus on the management and actually communicating with patients.”
He said AI could play a huge role in treatment too, from accelerating gene therapy research to the potential for tools that could flag a new breakthrough or trial that may benefit a patient.
“It’s incredibly hard to be aware of everything that’s going on,” he said.
“AI can comb the internet, can comb clinical trials networks.”
He said we needed to ensure genomics had the right support – from health system structures and funding to regulations that keep pace with rapid change – to bring AI’s benefits to clinical practice.
“Victoria is I would say a world leader in genetics historically,” he said.
“But I think if you don’t keep up with changing times … there’s certainly a risk of being left behind in new gene discoveries, new therapeutic discoveries, leading trials in this space.”
Professor MacArthur said Australia urgently needed our own “sovereign data resources” to ensure future tools were informed by “genetic changes that are present in our population and not someone’s population”.
“If we build our AI tools in a way that relies on those global data sets, there’s a real risk that we end up with models that work for people with European ancestries, but just don’t work for many of the communities living here in Australia,” he said.
“Right now we actually don’t have large amounts of data that is relevant to the Australian population.
“If we want to make this work, this will require really substantial multiple hundreds of millions of dollars in investment from government and from other sectors.”
Dr Evans said investment in critical areas including high performance computing capacity, secure data storage and work to ensure new clinical tools can be embedded into healthcare systems were crucial.
“This is an important time when we really need to invest in infrastructure to make sure that we can now move at pace,” she said.
This article was originally posted by The Australian Financial Review here.
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