Taking part in the 100,000 Genomes Project

Our Trust is playing a role in helping to develop a new genomic medicine service for the NHS and transforming the way people are cared for.

We have joined the West of England Genomics Partnership as part of the West of England Genomics Medical Centre (GMC), based in Bristol. This is one of thirteen centres in England, and part of an ambitious programme aimed at developing the UK genomics capability.

The Prime Minister announced the 100,000 Genomes Project in December 2012. The project aims to sequence 100,000 genomes from around 70,000 people by the end of 2017. Eligible participants are NHS patients with a rare disease, plus their families, and patients with certain cancers. A major aim is to create a new genomic medicine service for the NHS.

GMCs have been identified as the vehicle for the delivery of this project. There are 13 GMCs in England.  Our Trust expects to start to recruit breast cancer patients to the programme from October 2016.

Mr James Bristol, Consultant General Surgeon and GHNHSFT co- lead clinician within the Trust, said: "Participating patients from Gloucestershire will be contributing to a ground-breaking scientific project. Initially, those who meet appropriate criteria will be asked if they want to participate; if they agree, they will be counselled and samples taken that will be fed into the genomics pathway. Data from these samples will be held in a national database which as part of a genomic medicine service for the NHS, will transform the way people are cared for."

The project will enable new medical research as combining genomic sequencing data with medical records creates a ground breaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. It may eventually prove possible to obtain a diagnosis where one did not previously exist; analysis of information in the database is also expected to lead to new and more effective treatments. In addition, the 100,000 Genomes Project aims to kick-start a UK genomics industry. It is currently the largest national sequencing project of its kind in the world.

For more information visit Genomics England’s website.

Rare Disease

In April 2003 one of the most significant scientific breakthroughs of modern times was announced. After years of painstaking research carried out by thousands of dedicated scientists across the world, the complete genetic code of a human being – their genome – could now be published.

The Human Genome Project, as this work was known, was the largest international collaboration ever undertaken in biology with British scientists leading the global race to read the human genome, which is made of DNA, letter by letter, a technique called sequencing. The UK has often led the world in scientific breakthroughs and DNA was no exception. Crick and Watson won the Nobel Prize for discovering the double helix structure of DNA and it was a British double Nobel Prize winning scientist, Fred Sanger, who discovered how to sequence it.

Now there is a real opportunity to turn the very important scientific discoveries about DNA and the way it works into a potentially life-saving reality for NHS patients across the country.

What is genomics?

Genomics is a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes (the complete set of DNA within a single cell of an organism).  Advances in genomics have triggered a revolution in discovery-based research to understand even the most complex biological systems such as the brain. The field includes efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping.