A world leader in unlocking the genome

A world leader in unlocking the genome

The West Midlands is at the centre of an ambitious initiative using pioneering science to transform diagnosis and treatment for patients with cancer and rare diseases.

As part of the 100,000 Genomes Project, the region is helping to decode complete sets of people’s genes to accelerate the delivery of personalised healthcare. It is anticipated that around 75,000 people will be involved between 2015 and 2017.

A genome is a person’s set of genetic instructions. Each one contains all the information needed to build that organism, and to allow it to grow and develop. Our bodies are made up of trillions of cells, each with their own genome and made from DNA.

The West Midlands Genomics Medicine Centre (WMGMC) is one of 13 centres across England and started recruiting patients in February 2015. It brings together 18 local NHS health trusts, led by University Hospitals Birmingham (UHB) NHS Foundation Trust, which bridge an internationally-recognised, clinical and academic community, and is expected to deliver 13,500 of the 100,000 samples.

The scale and diversity of the region’s unique patient population gives access to one of the largest and most interesting patient cohorts in Europe. Professor Dion Morton, a leading surgeon and director of the WMGMC, said: “The project provides an unprecedented opportunity for improved diagnosis and management of certain conditions, as well as enhancing opportunities for research and the development of treatments.

Genes 02“Our GMC gives us the opportunity to be a world leader in the use of genomics and genetic technologies for participant benefit within the NHS,” he said. “Integral to this, and the adoption of the complete functional genomics pathway-from genome sequencing and DNA, through to products such as metabolites and biomarkers-will be the development of new capability and capacity for genomic medicine within the NHS and the transformation of care delivery.

“It is now 16 years since the Human Genomes Project breakthrough, which led to the hope that doctors would eventually identify faulty genes responsible for specific diseases and ultimately, develop medicines to treat them.

“We are instrumental in building on what has been achieved since then and moving it forward, putting Birmingham at the forefront of science-not just in the UK but on a global scale.”

The regional initiative is underpinned by the work of the West Midlands Academic Health Science Network (WMAHSN). Dr Christopher Parker, managing director of the WMAHSN, said: “The genomics project is a prime example of how life sciences and academia can work with healthcare providers to help deliver improvements in the region’s health and wealth.

“Not only will patients gain from the transformation in diagnosis and treatment for cancer and rare diseases, but many people will also benefit from more effective prevention.

“This partnership will help us to shape our workforce to operate in a transformed and growing health environment. It will benefit the population as a whole, as well as promoting the better sharing of data for research and other purposes and ultimately creating jobs for the local economy.”

The West Midlands was selected for the first wave of GMCs because collectively, the partners have a track-record of providing excellence in genomic services and have been evaluated by NHS England to ensure they meet the requirements to deliver the project.

After samples are collected, they are sent securely to Illumina, who have been procured by Genomics England to sequence the whole genome and to analyse it. Results are then sent back to the NHS for validation and clinical action.

Some participating patients will benefit during the lifetime of the project because a conclusive diagnosis can be reached for a rare and inherited disease more quickly, or because a treatment for cancer can be targeted at the particular genetic change that is present in the cancer. But for the majority of patients taking part, the benefit will be in the improvement in knowledge of the influence of genetics on disease and how it is expressed in an individual; how other people with similar diseases can be helped in the future; and how different types of tests can be developed to detect changes beyond the genome.

Central to the WMGMC is the newly-opened Institute of Translational Medicine (ITM), a bespoke research facility that embodies the ethos of the 100,000 Genomes Project. It is based on the QE hospital complex, which is also home to the WMAHSN. The ITM hosts five key thematic areas, including cancer and rare diseases.

In September 2015, a new Centre for Rare Diseases opened there, offering a prospective cohort of patients who may wish to participate in the 100,000 Genomes Project, along with their family members.

Collaboratively, the ITM and WMGMC are underpinned by state-of-the-art clinical informatics which will support knowledge-sharing among the local delivery partner trusts to ensure a legacy that will benefit patients for generations to come. UHB has an international reputation for its IT and informatics systems which have been developed in-house with the involvement of clinicians.

The trust, in collaboration with its academic partner, the University of Birmingham, is leading a workstream for the 100,000 Genomes Project to develop the use of digital systems and devices to support both patient and staff communications.

Industry support for the 100,000 Genomes Project comes in the form of a number of companies nationally who have come together to create the Genomics Expert Network for Enterprises (GENE) Consortium. The consortium will oversee a year-long industry trial involving a selection of whole genome sequences across cancer and rare diseases.

Genomics England will also collaborate with companies which specialise in data analysis, so that the project can benefit from cutting edge advances in handling big data. The trial aims to identify the most effective and secure way of bringing industry expertise into the 100,000 Genomes Project in order to realise the potential benefits for patients.