Experts say data from the genome and epigenome will help prevent, diagnose and treat cancer. 

In 2020, an estimated 10 million people lost their lives to cancer. This devastating disease is underpinned by changes to DNA – the instruction manual for all cells.

It has been 20 years since scientists first unveiled the sequence of the human genome. 

This momentous achievement was followed by major technological advances that allow scientists today to read the layers of information of DNA in enormous detail – from the first changes to DNA that occur as a cell becomes cancerous to the complex microenvironments of advanced tumours.

Now, to accelerate discoveries for cancer patients, the world needs new ways to bring together the different types of complex data to provide new biological insights into cancer evolution.

“We’re at a point where new cancer insights will come from solving mathematical problems generated from complex and diverse sequencing and imagining data sets,” says Professor Susan Clark, Genomics and Epigenetics Research Theme Leader and Head of the Epigenetics Research Lab at the Garvan Institute of Medical Research. 

“Our advanced technologies are allowing us to generate a wealth of data. But the challenge now is data integration – humans simply cannot digest all the information we generate. 

“This challenge will be addressed by artificial intelligence, which is where we will need to incorporate computational expertise, looking at and modelling data in innovative ways.

“Another critical future challenge will be to translate basic findings into tangible clinical applications. 

“A precise understanding of the multiple steps that lead to cancer formation inside cells may allow us to improve our screening of cancer risk and early detection of cancer. In the future, studies of genetic and epigenetic signatures may help us remove carcinogenic agents and processes from our environment altogether.”

For advanced cancers, the experts say that integrated DNA analyses may help pinpoint overlooked mechanisms that cancer cells use to metastasise, which may be promising targets for therapy development.

“As geneticists and epigeneticists, the challenge of integrating our data to study cancer is not unlike the challenge of modelling climate change,” Dr Clark says. 

“Climate modelling requires a huge amount of data from different sources to be combined and contextualised to make predictions about the planet’s future.

“This is the same for genomics and epigenomics – we need to understand how the multiple different layers of DNA information work together to elicit the damaging effects of ‘climate change’ in our cells as they become cancerous.”