The 100,000 Genomes Project aims to bring the benefits of personalised medicine to the NHS. To make sure patients benefitted from innovations in genomics, the Government committed to sequencing 100,000 whole human genomes, from 70,000 patients, by the end of 2017.
Successful delivery of the 100,000 Genome Project will enable us to achieve a number of ambitions including:
- to be the first country in the world to sequence 100,000 whole human genomes for the treatment of patients with rare/inherited diseases or common cancers;
- to have high consent rates from patients and public support for genomics;
- to have established world leading genomics services within the NHS;
- to have educated and trained health professionals within the NHS in genomics and its applications for improved patient care and treatment, raising broad awareness and understanding of the advantages genomic medicine offers to patient care in the NHS;
- to be the home of world-leading genomics companies which will work in partnership with the NHS and its academic research partners; and
- to have stimulated the development of diagnostics, devices, medicines and treatments based on a new understanding of the genetic and molecular basis of disease.
Some patients taking part in the 100,000 Genome Project will benefit because a conclusive diagnosis can be reached for a rare/inherited disease or because a “stratified” cancer treatment can be chosen that is most suitable to their individual cancer.
For most, the benefit will be in knowing that they will be helping people with similar diseases in the future through research on the genome and associated clinical data they generously allow to be studied. Their involvement in the project will allow an infrastructure to be developed, which in the future will support genomic services to be applied more widely to patient care in the NHS and across many clinical specialities.
It is not just patients and the NHS that stand to benefit from the 100,000 Genomes Project. Whilst themain aim is to improve the lives of patients, there are potentially many economic benefits for the nation and the UK tax-payer. Some may be unexpected, built on new, as yet undiscovered technologies that will emerge. Such benefits may be improved diagnostic tests, better tailored treatments and development of new treatments and medicines.
NHS England has established 13 NHS Genomics Medicine Centres (GMC) to cover the country delivering an end-to-end genomic medicine pathway. They are enabling the participation of patients and family members with their informed consent; collecting samples to extract DNA; capturing clinical information to inform the interpretation of the genome sequence; and establishing the infrastructure to make genomic medicine a routine part of NHS care.
All NHS GMCs work to a highly detailed, and constantly updated, service specification set by NHS England, which at its core is about delivering to high quality standards and establishing an infrastructure to support personalised medicine. This common approach ensures consistency and coherence across the NHS to gain maximum benefits from this application of genomic technologies and curation of knowledge, and is laying the foundations for the future.
The UK is recognised worldwide as a leader in genomics and the unique structure of the NHS is allowing us to deliver these advances at scale and pace for patient benefit.
The 100,000 Genomes Project is cementing the NHS’s position as one of the most advanced healthcare systems in the world, and is providing the foundation for a new era of personalised medicine, and this in turn will contribute towards delivering high quality care for all, now and for future generations.
For further information about the 100,000 Genomes Project, please see the Genomics England website at: www.genomicsengland.co.uk. For information relating specifically to genomics education and training for NHS staff, please see the relevant section of the Heath Education England website at: www.genomicseducation.hee.nhs.uk.
If you have any queries regarding any aspect of the 100,000 Genome Project please contact the Genomics Implementation Unit at NHS England via: email@example.com.