Leaps forward in knowledge have allowed scientists and doctors to start to bringing advances out of the lab and into the clinic to directly benefit patients
Twenty-five years ago, genomic science was only just emerging, its potential unfolding. It has advanced at an extraordinary rate.
Genomics and biodata are transforming understanding of diseases such as cancer and heart disease, malaria and cholera. The leaps forward in knowledge and are enabling scientists and doctors to move advances out of the lab and into the clinic to offer improved diagnosis and treatment.
The UK, under the guidance of NHS England, is moving ever closer to Chief Medical Officer Sally Davies’ dream of a ‘genomic revolution.’
“We’re entering the next era of genomics and are really starting to witness the positive effect it can have on our health. The Sanger Institute has been instrumental in bringing about this genomic era with ground-breaking science such as the Deciphering Developmental Disorders project and investigating the genetic roots of cancers, infections and antimicrobial resistance and we are continuing to lead genomic research into health and disease."
Dr Julia Wilson, Associate Director of the Wellcome Sanger Institute
The journey began in 1990 with the ambitious Human Genome Project – which set out to sequence complete genetic code of a human being. It took 13 years of dedicated, painstaking research, and cost £2 billion, with the Wellcome Sanger Institute the largest single contributor to the breakthrough project.
Today, the same process can be done in days at a fraction of the cost. The Sanger Institute sequences hundreds of genomes a week.
These technological advances underpin the rollout across England of the Genomic Medicine Service from 1st October 2018. This revolutionary service builds on the success of the 100,000 Genomes Project, launched in 2012, which to date has sequenced over 80,000 NHS patient genomes.
The NHS will now roll this service out to the wider population, harnessing the power of genomic technology and science to improve health. It is the first health system in the world to do this, and aims to make genomic testing as commonplace as a blood test.
The service will initially focus on enabling quicker diagnosis for patients with rare diseases, matching patients with cancer to the most effective treatments and reducing adverse drug reactions. In the future, the ambition is to test for many more diseases, and potentially to identify the risk of severe early-onset conditions.
Ongoing projects have already highlighted the benefits of genome sequencing for patients with rare developmental diseases. The Deciphering Developmental Disorders project at the Sanger Institute, for example, has found diagnoses for around 40 per cent of the 13,000 patients that were recruited into the study which aims to use genetic technologies to identify, manage and understand developmental disorders.
And progression to ‘single-cell’ genomics has led to the Human Cell Atlas, a global initiative to map every single one of the 37 trillion cells in the human body, deepen understanding and provide the stepping stone for further scientific advances for decades to come.
“Genomic medicine has the potential to transform patients’ lives, enabling quicker, better diagnoses; matching people to the most effective treatments and increasing the number of patients surviving cancer.
“In establishing the Genomic Medicine Service, we are putting the NHS in pole position to harness this technology as it develops. This is an important milestone as we develop the long-term plan for the NHS, creating a world-class resource and building on the long history of delivering cutting-edge technology for our patients.”
Professor Dame Sue Hill, chief scientific officer for England and senior responsible officer for Genomics at NHS England
“The Wellcome Trust Sanger Institute has led remarkable transformations in research and medicine over its proud 25-year history. The 100,000 Genomes Project is one global endeavour that would not be here without the original Human Genome Project. Genomics England and the 100,000 Genomes Project, in turn, has proven the case for the NHS to introduce genomic medicine into routine healthcare and lead the international effort to usher in a new era of personalised medicine.”Professor Mark Caulfield, Chief Scientist, Genomics England