Genomics England, part of the Department of Health and Social Care, has reached its target of sequencing 100,000 complete genomes. This has opened up whole new spheres of diagnosing and treating rare diseases and cancers. The samples came from 85,000 subjects, the balance being made up of cancer samples from the tumor rather than the subject’s normal cells. This will identify the genetic mutations responsible for their cancer. New cancer patients in England are already able to have the genome of their tumor sequenced to find the best treatment for their particular mutation. Patients with rare genetic diseases have received a full diagnosis, in some cases for the first time.
The 100,000 Genomes Project has delivered life-changing results for patients with one in four participants with rare diseases receiving a diagnosis for the first time, and providing potential actionable findings in up to half of cancer patients where there is an opportunity to take part in a clinical trial or to receive a targeted therapy.
To do this Genomics England worked with NHS England to create 13 NHS Genomic Medicine Centres (GMCs) to support the project, a state-of-the-art sequencing centre run by Illumina, Inc. and an automated analytics platform to return whole genome analyses to the NHS.
The first full human genome sequence took years to produce, that is now down to a day. With the 100,000 Genome Project’s 5 year mission completed, a new target of a million genomes has been set.
The Secretary of State of Health and Social Care’s announcement on 2 October laid out an exciting roadmap for genomic medicine. His words demonstrate the importance of personalised medicine and its ability to continue to deliver cutting edge care within the NHS: “I’m proud to announce we are expanding our 100,000 Genomes Project so that one million whole genomes will now be sequenced by the NHS and the UK Biobank. I’m incredibly excited about the potential for this type of technology to improve the diagnosis and treatment for patients to help people live longer, healthier lives – a vital part of our long-term plan for the NHS.”
The GMCs will also move on to provide routine diagnoses for NHS patients.
From early October NHS England will launch [launched] a new Genomic Medicine Service for routine care across the country by linking hospitals to specialist genomic centres. Together with clinical information, analysis of the DNA of patients and their families will help with the diagnosis of rare diseases, and analysis of the DNA of frozen operation specimens from patients with cancer will help match them to the best treatment. Both will provide data for new discoveries. The new routine service will have continued support from Genomics England and is being discussed with the other UK countries.
This is only the start. While the data has been anomynised, details of the treatments and outcomes (for cancer patients especially) will refine the knowledge about the best ways of dealing with a particular genetic mutation.
It’s notable that this is being done within the context of a universal health service substantially free at the point of delivery. Participants in the studies see it as a form of repayment or altruism — “If it doesn’t help me, it might help someone else”. As Genomics England put it:
Genomics England and NHS England are extremely grateful to the 85,000 participants, 1,500 NHS staff, over 3,000 researchers, the National Institute for Health Research and the UK Government whose support and funding have been key to the success of this pioneering NHS transformation programme.
As a result the UK has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.
Of course knowing which genes are the problem does not address how the differences affect the body. That work is being carried out at another major research institution established this century.
So when Republicans whitter or twitter on about the glories of a for-profit health care sickness treatment system, just point this out. This is fundamental science with a very practical benefit and which raises the real possibility of individual and more effective treatment plans.