Pictured from left to right: Adrian Shipp, Amanda Pichini, Genetic Counsellor at University Hospitals Bristol NHS Foundation Trust, Dr Andrew Mumford, Consultant Haematologist and Clinical Director of WEGMC and Amy Watford, Genetic Counsellor at University Hospitals Bristol NHS Foundation Trust
The West of England Genomic Medicine Centre (WEGMC) is helping the NHS build a new genomic medicine service by providing NHS patients with the opportunity to take part in the 100,000 Genomes Project.
In June 2016, the WEGMC achieved the major landmark of enrolling the first patients in the West of England region.
The project, a ground-breaking initiative launched by former Prime Minister David Cameron in 2012 and the largest national genome sequencing project of its kind in the world, aims to sequence 100,000 genomes from around 70,000 people with a rare disease and their families, and from people with cancer. The West of England region was successfully awarded the status of being a national Genomic Medicine Centre at the end of 2015.
Adrian Shipp, 39 and from Bristol, is a haematology patient at University Hospitals Bristol NHS Foundation Trust and is one of the first people to join the 100,000 genomes project at the WEGMC.
Adrian said: “I’ve had a haematological condition since birth and I think this important genomics research could provide some answers around it. I also hope the research could lead to improved diagnosis and treatments for people with rare conditions.”
Professor Ruth Newbury-Ecob, WEGMC rare disease clinical lead, said: “At the moment many patients with rare conditions go through a ‘diagnostic odyssey’ of tests. Genomics has the potential to provide prompt and accurate diagnoses. As a result of this project, genomics may also provide screening and targeted treatments for common conditions such as diabetes, cancer and heart disease in the future.”
Dr Andrew Mumford, clinical director of the WEGMC, said: “Patients, like Adrian, are absolutely at the heart of this project. We are thrilled to see that patients in the West of England region are supporting this very important initiative that will shape the future of healthcare and personalised medicine in the NHS.”
Professor Sue Hill, Chief Scientific Officer for NHS England, said: “Genomics is vital to the future of healthcare and this is another great step in keeping NHS care at the cutting edge of science. The contributions of people like Adrian as well as families of people with rare disease are helping to build the future of healthcare across the country.
“We’ve been particularly impressed by the strength of the partnerships that the West of England Genomic Medicine Centre has brought together between the NHS and other key players which will help them to ensure a strong and effective service for the region.
“The UK is already a leader in genomic technologies and the unique structure of the NHS allows us to deliver these advances at scale and pace for patient benefit. This is another step towards building the knowledge and skills to improve care for generations to come.”
Clinicians from the hospitals involved referred potentially eligible patients, who are discussed at a multi-disciplinary team (MDT) meeting, then contact by the WEGMC coordinators. Patients choosing to be involved then took part in a consultation of informed consent, gave a blood sample, which is then processed in the lab at Southmead Hospital in Bristol, before being sent to a national centre for sequencing.
Some of the patients involved could benefit from a quicker conclusive diagnosis for a rare and inherited disease. Cancer patients may benefit because a treatment might be suggested based on a particular genetic change in their tumour.