100,000 Genomes Project

The project was established to sequence 100,000 genomes from around 85,000 NHS patients affected by a rare disease, or cancer.

The 100,000 Genomes project aimed to sequence 100,000 genomes from around 85,000 NHS patients affected by a rare disease, or cancer in order to help doctors better understand, and ultimately treat, rare and inherited diseases and various cancers.

Former Prime Minister David Cameron, announced the 100,000 Genomes Project in late 2012. At this time, Genomics England, a company wholly owned and funded by the Department of Health & Social Care, was set up to deliver the project and sequence 100,000 whole genomes from NHS patients.

The project built on exciting discoveries about the genetic code of human beings, advances in the speed and cost at which the human genome could be sequenced, and the potential for genomics to be introduced into mainstream healthcare.

The four main aims of the project were to;

  • to create an ethical and transparent programme based on consent;
  • to bring benefit to patients and pave the way for a genomic medicine service in the NHS;
  • to enable new scientific discovery and medical insights to improve and develop personalised treatments;
  • and to kick start the development of a UK genomics industry.

100,000 genomes focused on patients with a rare and inherited disease and their families and patients with cancer, as these affected a large number of people in the UK.  

Just fewer than 160,000 people died from cancer in 2011 and a 3 million people – between 6-7 per cent of the population are living with the effects of a rare condition. In addition 80% of rare diseases are in children who are disproportionately impacted by the severity of rare conditions. (Source: Genomics England).

Another reason for this focus was that both rare disease and cancer are strongly linked to changes in the genome. We know that at least 80 percent of rare diseases are genomic with half of new cases found in children.

People were recruited to the 100,000 Genomes Project at NHS Genomic Medicine Centres, which were created to work with the NHS genetic and other specialist services in their area to coordinate recruitment, testing and sharing of results.

The Project paved the way for a new genomic medicine service (GMS) for the NHS – transforming patient care and enabling equity of access to advanced diagnosis and personalised treatments across England.

Another legacy of the project arose from combining genomic sequence data with medical records which generated a wealth of data for researchers. They could use the results to better understand the causes, diagnosis and treatment of disease.

Recruitment of participants to the 100,000 Genomes Project was completed in 2018, with the 100,000th sequence achieved in December 2018.

The results are still being analysed and reports developed to return to patients. It is hoped that all of the primary results will be returned by late summer 2020. Additional findings are likely to be returned in 2021, once the primary results are completed.