Genomics represents one of the most exciting advances in science – applying knowledge about a person’s genetic code to guide their healthcare has the potential to revolutionize medicine and improve the lives of thousands of people. Genomics England aims to unlock these advances through large-scale whole-genome sequencing, realize the delivery of genomics medicine to the UK public via the National Health Service (NHS), and enhance the UK’s position as a world leader in the field of genomics.
Genomics England was set up by the UK Government in 2013 to deliver the ambitious 100,000 Genomes Project, which aimed to sequence the whole genomes of 100,000 people and uncover insights into genetic variations behind different types of cancers and rare diseases. This challenging project required close collaboration with the NHS and was supported by specialist scientists and clinicians working across the UK, and by a close partnership with the leading sequencing company, Illumine. Genomics England is the custodian of this data, which offers an invaluable resource for scientists and clinicians working to establish the genetic causes underpinning different diseases and health conditions.
Thanks to the generosity of the participants and their families, and the hard work of the scientists and clinicians involved in the Project, the target to sequence 100,000 whole genomes was achieved in December 2018. Analysis of the genomes is ongoing, and the data promises to reveal valuable insights into health and disease into the future. The clinical interpretation of this data has revealed a possible diagnosis for 1 in 5 participants with a rare disease, while around half of cancer patients in the Project have received information about potential clinical trial opportunities or treatment options.
Having fulfilled the ambition to sequence 100,000 genomes, Genomics England is now working towards sequencing 1 million genomes. This larger data set will allow researchers to investigate the genes behind other types of diseases, as well as to research genomes from healthy individuals.
We are also working closely with the NHS to launch a Genomic Medicine Service to deliver the benefits of this knowledge directly to all patients. Embedding genomics within the UK’s healthcare system is a complex challenge, but there are substantial benefits to be gained from more accurate diagnoses and personalized treatments. The Secretary of State for Health and Social Care, Matt Hancock has also asked Genomics England to explore the potential for establishing a Genomic Volunteers Initiative, which would offer the opportunity for members of the public to pay to have their whole genome sequenced and donate their data to research in the UK.
This work will require the acceptance and approval of the public. Engagement of participants and discussions about people’s views of our work has been key to the success of the 100,000 Genomes Project – patients are at the heart of everything we do and all that we are trying to achieve. The sustained inclusion of patient voices has guided Genomics England about what the public understands about and expects from genomics, appropriate ethical consideration and what safeguards are required, and where the public might draw a red line on the use of genomics in the real world. These invaluable insights should be embedded into all future work in genomics medicine.
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