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21 March 2018

Major genetics research project hits halfway mark as 2,000 people enrol

The 100,000 Genomes Project in the West of England has passed the half-way mark with 2,000 patients or family members enrolling.

The West of England NHS Genomic Medicine Centre (WEGMC) aims to enrol 4,000 patients and families into the programme by September.

The national project is a major NHS initiative to sequence 100,000 genomes from patients with rare inherited diseases or with cancer and to transform NHS services to include genome sequencing as standard care for future patients. 

The WEGMC has seen 2,000 people consenting to the project, including 1,700 from families with rare diseases and 300 with cancer consenting since the centre opened.

Almost 900 people have consented to be part of the project in the last six months, as the centre continues to go from strength to strength.

Professor Andrew Mumford, clinical director for the WEGMC, said: "This is a major landmark for the WEGMC which was opened to enable people with rare diseases or cancer to access diagnostic genome sequencing and to transform genome medicine into mainstream NHS practice.

"The WEGMC team with colleagues in NHS trusts and other partner organisations have achieved a lot together since the centre opened in summer 2016 including:

  • Genome-level diagnostic testing for adults and children with 218 different rare diseases
  • Germline and tumour genome sequencing for 12 different types of solid or blood cancer at four NHS trusts
  • Implementation of new consent clinics, bespoke informatics and cutting-edge laboratory processes
  • Return of new genome sequence data for West of England patients
  • Expert consent training of more than 40 local NHS staff, free access to the masters level Genomic Medicine Education programme and
  • Engagement of more than 15,000 public and healthcare workers at information events.

"The WEGMC will now work with clinical teams to take full advantage of our allocated capacity by accelerating patient access until the end of the 100,000 Genomes Project in September 2018.

"We look forward to transitioning this programme to a mainstream Genomic Medicine Service that will transform care for NHS patients."

University Hospitals Bristol NHS Foundation Trust is the lead organisation for the WEGMC.

For more information about the WEGMC and the 100,000 Genomes Project visit:

About genomes and sequencing:

Your genome is the instructions for making and maintaining you. It is written in a chemical code called DNA. All living things have a genome; plants, bacteria, viruses and animals.

Your genome is all 3.2 billion letters of your DNA. It contains around 20,000 genes. Genes are the instructions for making the proteins our bodies are built of - from the keratin in hair and fingernails to the antibody proteins that fight infection.

Sequencing is a technique that is used to 'read' DNA. It finds the order of the letters of DNA (A, T, C and G), one by one.

Sequencing a human genome means finding the sequence of someone's unique 3 billion letters of DNA