Scientists get new genome platform to decode DNA in fight against complex diseases

Australian scientists now have access to revolutionary tools which could give them a cutting edge in the fight against diseases like cancer.

Key points:

  • New technology can help scientists decode the DNA of things like tumours
  • The DNA you are born with plays an important role in a range of diseases
  • Genomes can now be decoded in just two days for just a few hundred dollars

The new genome sequencing platform, known as the NovaSeq Series, has been called a game changer and will give researchers a clearer and fuller picture of a patient’s genetic make-up.

And that means the ability to decode the DNA of things like tumours.

Professor Sean Grimmond, from the University of Melbourne Centre for Cancer Research, said the implications could be wide-reaching.

“This is the biggest chance we’ve got in the next five to ten years of advancing, certainly on our intractable and rare cancers,” he said.

How does this help to fight cancer?

The new technology means that scientists will be able to give patients a better diagnosis.

“What we’re doing here now is drilling right down to the DNA,” Professor Grimmond said.

“We know that different cancer types have different patterns of damage to the DNA.

“So we can use that information now to get a much higher resolution and understanding of what your tumour is and what’s actually driving it.

“So as a cancer researcher, if I can decode the DNA from your tumour, I have a way of understanding what exactly went wrong in your disease.

“Then maybe I can find a way to tackle your cancer in a personalised fashion.

Generic DNAPHOTO: A genome is the sum of a person’s genetic information — like their genetic blueprint. (Pixabay)

“I guess the onus on us now with this fantastic new tool is really to work out where that clinical utility is, and how it will actually improve different aspects of treating cancer.

“And then working out how quickly we can get that into the standard of care.”

What is a genome?

A genome is the sum of a person’s genetic information — like their genetic blueprint.

The new technology means genomes can be decoded in a couple of days and for just a few hundred dollars.

Dr Irene Kourtis from the Australian Genome Research Facility said the first human genome took about 13 years to sequence, costing around $2.7 billion.

“What we can do now with the NovaSeq is to be able to analyse 50 human genomes in less than two days,” she said.

Decoding the hard drive of your DNA

Professor Grimmond said the DNA a person is born with plays an important role in a range of diseases.

“The DNA effectively in your cells is like the hard drive on your computer,” he said.

“And [the technology] allows us to decode and understand every piece of information that is on your DNA.”

And he said until now scientists had been relying on centuries-old equipment.

“Traditionally the way we would diagnose cancers is by using a microscope, which is effectively a 300-year-old instrument,” Professor Grimmond said.

“We look at cells, we can see that they’re abnormal and maybe we’d look at one or two proteins to see if they’re present or absent, to give us comfort that we think it’s a particular cancer type.”