The genomics-driven era of cancer research

To some of our younger readers, a time before the internet may seem like a distant memory, mingled with dim recollections of Top of the Pops and Soda Streams. It’s astonishing to think that as recently as the mid-1990s – when scientists cloned Dolly the sheep – there were only a few thousand websites.

The internet has now grown into a fantastically rich source of information about the world and is made up of many millions of websites.

A similar information revolution is happening in cancer research. Just 30 years ago, around about the time the word ‘internet’ was first used, scientists knew little about how genes were involved in cancer. Fast-forward to today, and hundreds of genes involved in the disease have been tracked down.

Patient benefit

Today’s patients are already benefitting from the explosion in knowledge outlined in this timeline, with several genetic tests available to families with a history of specific types of cancer, along with targeted treatments such as trastuzumab (Herceptin) for some breast cancers and imatinib (Glivec) for chronic myeloid leukaemia based on these discoveries.

The exciting thing is that we’ve only really scratched the surface when it comes to understanding how our genes are involved in cancer. Driven by increasingly advanced DNA-deciphering genomics technologies, scientists are now starting to delve deeper, and to unearth the genetic secrets of cancer, tumour by tumour.

Thanks to the generous support of the public, Cancer Research UK is at the centre of this revolution. A few months ago we wrote about our crucial role heading up projects to read the genetic code of hundreds of oesophageal and pancreatic cancers, as part of the International Cancer Genome Consortium.

And at the end of last year, we were proud to announce nine other innovative projects that we’re funding as part of our Genomics Initiative. Such projects have the potential to transform the way we diagnose and treat cancer in the future. The Genomics Initiative is being funded byCancer Research UK’s Catalyst Club – a pioneering venture to raise £10 million for various research projects, including the Genomics Initiative, on personalised medicine for people with cancer.

And the most recent entry happened this week, when our scientists announced they had used next-generation genomics machines to unravel the genetic evolution of a single tumour.

Evolving story

Our knowledge of cancer genetics is evolving

The International Cancer Genome Consortium, the Genomics Initiative and this week’s announcement about the ‘genetic landscape’ of a single tumour are part of a much wider – and still evolving – story of cancer genetics, which all started with Watson and Crick uncovering the structure of DNA.

The above timeline describes just some of the key events in genetics and genomics research from this discovery to now. It’s intended to give a flavour of the discoveries that underpin today’s understanding of cancer genetics. It’s by no means a complete history, but it illustrates that progress in cancer research happens incrementally through a steady building of layers of information about the biology of healthy and cancerous cells.

Each new layer brings us closer to a more complete understanding of what drives the development of cancer, and to new ways to beat the disease.

The power of the internet lies in the interconnectivity of its information. Similarly, each layer of information in cancer research is connected to (and wouldn’t have been possible without) decades of previous work.

Cheaper technology

And just as the web revolution has been driven by progressively advanced and cheaper computing technology, increasingly sophisticated DNA-decoding machines will drive the information revolution in cancer research.

In the computing world, it doesn’t take long for the cutting-edge to become the run-of-the-mill, because of the sheer pace of technological progress. For example, you’d need around thirty 1980s ZX Spectrums to hold the information encoded in just one mp3 song. And the 3D multi-player online games people enjoy today are a long way from the classic 1970s computer game Pong.

ZX spectrum – technology moves fast

The same can be said of the genome sequencing machines used in research. Today’s sequencing machines are already a world away from the machines used only a decade ago in the Human Genome Project, which cost a staggering £1.5 billion pounds and took 13 years to read the DNA code of around a dozen volunteers.

In comparison, sequencing a whole genome now takes roughly a week and costs just thousands. And this cost keeps dropping.

The future

Experts predict that we’re edging ever closer to the much-touted “thousand dollar genome”. So it seems inevitable that one day in the not-too-distant future that whole-genome sequencing will become as commonplace for cancer patients as standard hospital tests such as taking your blood pressure.

The International Cancer Genome Consortium and our Genomics Initiative are crucial precursors to such a future, and will doubtless yield invaluable information that will fuel many future breakthroughs.

But it’s really important to balance this enthusiasm with a note of caution. The future is bright, but significant challenges remain. The internet works not just thanks to the physical hardware of computers and servers, but also because of advances in computer software to make sense of the information. Similarly, the vast quantities of information that come out of genome sequencing studies need to be processed and made sense of, not to mention securely stored.

Achieving this needs parallel advances and investment in ways to interpret biological data – a field known as bioinformatics. Like modern-day equivalents of the code-breakers who used rudimentary computers to decrypt wartime messages at Bletchley Park, we need bioinformatics experts to decode the reams of information coming out of DNA sequencing machines.

And knowing your enemy is not enough. Without ways to translate this knowledge of cancer genetics into effective ways to diagnose and treat cancer patients, there’s no point in doing this work. Researchers around the world are working hard to turn new findings into tests to help doctors give the best treatment to each individual patient, and incorporate these into cancer care. As an example of this, our Stratified Medicine Programme aims to establish the foundations for a national health service that provides standardised, high quality, cost-effective genetic testing of tumours.

We shouldn’t be daunted by these challenges. History shows us that great things can be achieved through research. It’s no coincidence that decades of improving knowledge of the genetics of cancer have been mirrored by a doubling in the survival rate for the disease.

The past decades have witnessed an astounding pace of change in our understanding of the genetics of cancer. We can’t wait to see what the next few bring.

Olly Childs