Thursday, 26 March 2015
From the moment the human genome was first sequenced in 2000, there was great expectation that it would spark a revolution in medicine. However, many scientists have been disappointed that genomics has not delivered more. It’s true that we are now seeing the results of genetic research in the diagnosis and targeted treatment of cancer but many other common and serious diseases – such as diabetes, heart disease and asthma – have not yet benefited from this genomics revolution. That’s because of a mystery that scientists call “missing heritability” – like a black hole at the centre of this powerful science. And this is one of the most critical questions that Genomics England – a £300m investment in genomic science – is trying to solve.
Genomics remains one of our most powerful technologies to advance health science and this week AstraZeneca joins The Genomics Network for Enterprises (GENE) Consortium, which will analyse data from the whole genomes of 100,000 patients with cancer and rare diseases to uncover vital new insights that could translate into significant improvements in diagnosis and treatment. The four-year project will recruit patients through the NHS and is backed by a £300million government investment package, the largest national investment in genomics science in the world.
We already have many of the clues that point to a genomic influence in common diseases where patients desperately need new treatments. Family studies – particularly of twins – tell us that most of these diseases are caused by both genes and the environment but up until now it’s only been possible to identify a tiny proportion of the genes that cause these diseases. Scientists believe that this is because the genomic effect – the missing heritability – is made up of rare variants, each like a tiny piece of a very complex 19,000 piece jigsaw. With many of the vital, smaller jigsaw pieces missing it’s not been possible to see the whole picture.
All that is changing with the advent of next generation sequencing (NGS), which is up to a million times faster and more sensitive than previous sequencing technology. There is already evidence that NGS can uncover rare, clinically relevant genetic variants that have been missed by other approaches. For example, a 14-year-old boy presented with life-threatening neurological symptoms over 4 months. Conventional testing offered doctors no clues, until NGS identified an underlying, treatable infection. The boy was discharged home 32 days later.
The promise of the GENE Consortium is that many more genes will be discovered which can be used to develop new medicines and diagnostic tests, bringing us closer to unlocking secrets like missing heritability and what combinations of genes could govern a person’s susceptibility to disease or response to treatment. At AstraZeneca we are delighted to be joining as a founding member, contributing both funding and time, as our scientists in genomics and bioinformatics work alongside some of the foremost experts from both industry and academia. We are particularly excited about the opportunity to contribute our expertise in personalised healthcare and companion diagnostics to translate scientific discoveries into clinical benefits that can make a real difference to patients.
As a geneticist, I am delighted to have signed this collaboration, aligned to our genomics strategy to transform treatments in all AstraZeneca’s core therapy areas including cardiovascular, respiratory, and autoimmune disease as well as cancer. Harnessing the power of genomics lies in targeting treatment to the molecular drivers of disease and using companion diagnostic tests to match medicines to the patients most likely to benefit. Now, more than ever, genomics technology offers one of the best chances of combating and even overcoming these serious and debilitating diseases, where – through open collaboration like the GENE consortium – new, innovative treatments can shoot like saplings from the fertile soil of the genome.