The future is personalised medicine
During Healthcare Science Week our medical director Dr Julian Redhead talks about how the science of genomics is laying the ground for individual healthcare in the future, in his role as the responsible officer for the West London NHS Genomic Medicine Centre.
Healthcare today relies increasingly on leading-edge scientific research and development. But the work of healthcare scientists, who are critical to the development and application of new treatments and technologies, is often hidden from the public eye. During Healthcare Science Week, we celebrate our scientists – all 1,000 of them who work across our Trust.
And nowhere will healthcare scientists have more of an impact on your future care than in genomic medicine. The vast majority of cells in your body have a full copy of a sequence of 3 billion bits of genetic code, unique to you and referred to as your 'genome'. By analysing genomes, healthcare scientists are beginning to find out more about how particular genes and DNA affect health, which means clinicians will be able to devise treatments that work best for you as an individual.
It is barely 60 years since the structure of DNA was discovered and, in the decades since then, our understanding of the complex role of genes in both health and disease has grown hugely. The technology enabling us to identify the genetic make-up of an individual has advanced similarly, to become more affordable and accessible. Genomic medicine is on the ascendant.
In 2012 the government launched a huge project - the 100,000 Genomes Project. Thirteen regional genomics medicine centres were created with the aim, by 2019, of sequencing 100,000 genomes. Our Trust is the lead centre for the West London Genomic Medicine Centre – set up to deliver the 100,000 Genomes Project in north west London – working with our partners at Royal Brompton & Harefield NHS Foundation Trust, the Royal Marsden NHS Foundation Trust and Chelsea and Westminster Hospital NHS Foundation Trust.
The initial areas of focus for genomic medicine have been rare diseases and cancer. The changes in an individual's DNA that trigger cancer make it an obvious target for a genomic approach, but rare diseases are also relevant, with at least 80 per cent of them also being caused by changes in an individual’s DNA sequence. If healthcare scientists can spot and understand those changes, that opens possibilities for the development and use of personalised treatments.
For the 100,000 Genomes Project our healthcare scientists extract DNA from a sample of a patient’s blood, or, for patients with cancer, DNA is extracted from part of their tumour removed during surgery. The DNA is then analysed by healthcare scientists using a super-fast ‘next generation’ DNA sequencer which can characterise an entire genome in less than 48 hours. This is astounding when you compare it to the 13 years it took to complete the first sequencing of the human genome, in 2013, at a cost of £2 billion.
Our patients with rare or undiagnosed diseases have been keen to step forward and contribute to the project – some of them have gone through tens, even hundreds, of health investigations into their symptoms over the years with no definitive diagnosis. If the ‘next generation’ DNA sequencer identifies something in their sequence that warrants further investigation, then the results come back to our local healthcare scientists within the Trust to validate and they work with our clinicians to interpret the findings and inform treatment.
The 100,000 Genomes Project will create a world-leading database of genomic information so that we can develop a powerful learning system able to shape the future of diagnosis and treatment for all genetically caused conditions. So far, over 19,000 genomes have been sequenced across England, a great collaborative effort across the country, and the results are just starting to come in. By comparing the genomes of many different people with inherited diseases and cancer, looking for patterns, as well as clinical information, treatments can be tailored more specifically to the individuals concerned. This is 'personalised medicine'.
The potential of genomics is huge. The research and development on genomics underway now, including the 100,000 Genomes Project, will enable more precise and earlier diagnosis, faster clinical trials, new drugs and treatments and potentially, in time, cures for conditions that currently have no cure at all. It will transform our understanding and treatment of disease for future generations and leave a lasting legacy within the NHS. Our healthcare scientists and clinicians are leading the way.