Genomics: the future of healthcare?

Last year, the West of England partnership was selected to be a Genomics Medicine Centre.

The West of England Genomics Medicine Centre (WEGMC) will play a part in the ‘100,000 Genomes Project’, a three-year initiative to sequence 100,000 genomes from around 70,000 people. This project has the potential to radically improve diagnosis and treatments across medicine and healthcare.

A new website has been launched at providing all the latest news and developments on the project in the West of England.

What is genomics?

Genomics is the study of the entire set of genetic material found within one single cell of a living thing. This is a complex field, but can be more easily understood using a familiar analogy:

Genome = the whole book

Chromosomes = a chapter in the book

Genes = a sentence in the book

DNA = the letters forming the words in the sentences.

If the genome was a book, it would be the equivalent of 800 dictionaries long – yet all this information is contained in the microscopic nucleus of a single, tiny cell!

Is the WEGMC up and running now?

Over the last few months, all organisations in the West of England partnership have been working together to develop and implement the mobilisation plan. The partnership brings together North Bristol NHS Trust, University Hospitals Bristol NHS Foundation Trust, Gloucestershire Hospitals NHS Foundation Trust and Royal United Hospitals Bath NHS Foundation Trust, along with the West of England AHSN and the local universities.

Following an operational readiness assessment in February, NHS England and Genomics England gave the project team the green light to proceed.

Patient recruitment is now starting, with the first samples set to be collected and processed at the Bristol Genetics Laboratory at Southmead before being sent on to Genomics England for sequencing.

Why is the 100,000 Genomes Project so important?

The 100,000 Genomes Project aims to improve the diagnosis and treatment of patients with rare diseases and cancer by better understanding their genetic profile (genome). Working out the entire DNA sequence of the human genome for the first time took 13 years and cost £2billion. Advances in technology now mean it can be done in less than two weeks, costs under £1,000 and new discoveries are entering clinical practice rapidly.

But only by analysing the DNA sequence across large patient populations will we understand what genetic information is clinically relevant. The average human genome has around 4-5 million variants, most of which are common to many of us. Deciphering which are harmless and which could cause disease requires extensive scientific interpretation. This project will accelerate such discoveries and provide data that can be used in future research projects.

Genetic predisposition is the primary cause of most rare diseases that, collectively, affect 1 in 17 people. The identification of a specific genetic variant responsible for a rare inherited disease can establish or confirm a diagnosis quickly, enabling the patient to get the correct treatment.

Genetic predisposition also plays a role in most common diseases; for example familial hypercholesterolaemia, an inherited condition that means cholesterol levels are higher than normal from birth. Recent advances mean that several genes can be tested at once, rather than sequentially, quickly identifying those at risk and allowing them to make lifestyle choices or benefit from medication. Earlier interventions have the potential to deliver real cost savings as they help to prevent late presentation with acute conditions. The Government recently allocated a further £200m to fund the development of whole genome sequencing technology in the NHS.

To find out more about the WEGMC, contact:

Patient voice at the heart of new Genomic Medicine Centre

In January members of the public joined clinicians and other healthcare professionals to find out more about the new West of England Genomic Medicine Centre, which was announced in December.

The centre forms  part of the three-year national 100,000 Genomes programme to transform diagnosis and treatment for patients with cancer and rare diseases.

The event started with an introduction to the ambitions of the West of England Genomic Medicine Centre by Clinical Director, Dr Andrew Mumford from University Hospitals Bristol. Our aim is to complete whole genome sequencing of 4,650 samples from patients and their families in the region, and to integrate whole genome sequencing into standard clinical care pathways. You can see Andrew’s presentation here.

There was then a lively discussion about how we can best engage people in getting involved with the work of the Genomic Medicine Centre, raise public awareness and support, and gather feedback from service users about their experience so we can improve and develop how we do things.

Adele Webb from Gloucestershire was one of the public contributors who attended the event. Adele said, “It was so good to be involved – I thought there was an excellent atmosphere, particularly one without barriers.

“There was broad and open dialogue between professionals, patients and public contributors, although we could have done with a few more members of the public. I really hope it’s possible to get all those people back together not too far down the line, along with the others who weren’t able to attend. There was tremendous potential there.”

Hildegard Dumper, Patient & Public Involvement Manager for the West of England AHSN, added, “I was thrilled to be part of what I hope will be the beginnings of a dialogue between the Genomic Medicine Centre and patients and the public.

“The discussion we had was open and honest and it was generally agreed that it was important that the experiences of patients and the public help to shape the project as it gets rolled out. We are still working some of this out, so anyone who would like to be involved should get in touch.”

Find out more about the West of England Genomic Medicine Centre here or email


Patients set to benefit from new Genomic Medicine Centre in the West of England

Patients in the West of England are set to benefit from a new NHS Genomic Medicine Centre based in Bristol.

A partnership made up of NHS provider organisations in Bristol, Bath, Cheltenham and Gloucestershire, universities, the West of England AHSN, NHS commissioners and Health Education South West has been designated the West of England NHS Genomic Medicine Centre (WEGMC).

The centre will be part of the three-year project launched by the Prime Minister launched by the Prime Minister, to transform diagnosis and treatment for patients with cancer and rare diseases.

This involves collecting and decoding 100,000 human genomes – complete sets of people’s genes – that will enable scientists and doctors to understand more about specific conditions. It could allow personalisation of drugs and other treatments to specific genetic variants.

Clinicians from the hospitals involved will recruit potentially eligible patients. Then patients choosing to be involved will take part in a test which will then be processed in a lab at Southmead Hospital, before being sent nationally for sequencing.

Some of the patients involved could benefit from a quicker conclusive diagnosis for a rare and inherited disease or cancer because treatment may be targeted at a particular genetic change.

Patients at the heart of the project

Life Sciences Minister George Freeman MP said, “The opening of this centre, as part of our revolutionary 100,000 Genomes Project to sequence the genomes of NHS patients with cancer and rare diseases, underlines the UK’s position as a world leader in 21st century medicine.

“Patients are at the heart of the project. That’s why we have chosen NHS sites like this to sequence DNA on an unprecedented scale, which will bring better treatments to people with rare diseases and cancer in the West of England.”

Transformative possibilities

Tony Gallagher, Chair of WEGMC, said “This is an important step forward for patients and the development of future treatments in the West of England. Working together we have teams of dedicated and experienced doctors, nurses, counsellors, scientists, managers, commissioners and academics who are committed to realising the transformative possibilities that genomic medicine offers to patients in our area.”

Creating ground-breaking discoveries

Caroline Gamlin, NHS England South West Medical Director, said: “This is a huge tribute to the quality of our medical science in the west. Our local doctors will help to create ground-breaking discoveries about diseases, predict who is susceptible and design personalised treatments to tackle them.”

The national project to sequence 100,000 genomes was announced by the Prime Minister in 2012 in a bid to transform diagnosis and treatment for patients with cancer and rare diseases in the fast-emerging field of genomic medicine. NHS England established 11 NHS Genomic Medicine Centres (GMCs) in 2014. A year on, two more GMCs have been announced – one for the West of England and the second in Yorkshire and Humber.

An individualised approach to patient care

Professor Ruth Newbury-Ecob is a leading member of the West of England partnership. She works in the Clinical Genetics Service at University Hospitals Bristol which provides genetic services for Bristol, Bath Gloucestershire and Somerset. Specialising in rare diseases including inherited cardiac conditions, she works with colleagues  at the Bristol Royal Hospital for Children and the Bristol Heart Institute to provide specialist multidisciplinary care She works closely with the Regional Genetics Laboratory at North Bristol NHS Trust to develop new genetic testing, translating research findings into NHS services for patients across the UK.

She said, “Genomics has the potential to transform healthcare by developing a more tailored individualised approach to patient care and through better screening and targeting treatments to prevent development of diseases such as cancer and heart disease. The West of England partnership has brought together multiple interested parties for the first time to bring about this wonderful transformation in healthcare.”

Humbling and inspiring

Patients are involved in planning the new service. Deborah Evans, Managing Director of the West of England AHSN, said, “In recent weeks I’ve been involved in interviews with people locally who have experienced rare diseases or cancer and their carers, and we have gathered very rich and useful insights that will help us plan our new services.

“It has been humbling and inspiring to hear first-hand these stories from people who, when faced with cancer or a rare familial disease, have not only coped with extraordinary life-changing challenges for themselves or their families, but still have the commitment to contribute more for other people through this research which will play such an important role in the future of medicine and treatment.”

Tara Mistry from Bristol said: “As someone with personal experience of cancer, with a diagnosis before the age of 40 and with two young daughters having grown up under the shadow of their mother’s surgery and subsequent treatments, this news of the Genomic Medicine Centre for the West of England is just fantastic.

“I’m so pleased that I and other patients have been involved in helping design aspects of this new service from a patient perspective because we have enormous interest in making this work for the prevention of illness in our children and communities. It’s so good to feel that this service can help target treatments to individuals and so make us less sick while being treated and hopefully eliminate the disease altogether – so my daughters and others may not have to go through this in their lives. I look forward to being more involved as this project unfolds.”

Vital research

Adele Webb has also been involved in the patient and carer interviews. She said: “I am delighted that the West of England has been successful in its application to join the 100,000 Genome Project. This is our chance to contribute to an initiative that has the potential to impact not only on the health of people across the world, but also for future generations of our families.  Since I have personal experience of a rare disorder within my family, I  am particularly heartened to know that we can contribute towards the research that is so vital.”

Professor Aniko Varadi from the University of the West of England in Bristol will lead the work in education and training. She said, “It is critical that the workforce in the NHS is educated and trained to ensure the effective delivery of genomic technologies. The education and training programme supports the delivery of the 100,000 Genomes Project but it goes well beyond that. The ultimate aim is that the next generation of clinicians, scientists and multi-disciplinary healthcare teams have the awareness, knowledge and capacity to apply genomics to clinical practice.”


What do patients think about genetic testing?

Over the last few weeks people from the West of England AHSN have been doing in depth telephone interviews with patients or their carers who have used cancer or rare diseases services across the region. Most of these people contacted us after receiving a newsletter or email from their local Health Watch.

We asked people about their experience of services and asked them how they would respond to an offer of genetic testing  as part of the 100,000 Genome Project, as part of which we will be starting to offer testing in the West of England soon.

These were very inspiring conversations in which people talked freely about their experiences, reflecting on the shock of getting a diagnosis of cancer and the experience of cancer treatment or of living with a rare disease. People who had rare diseases themselves had often also experienced genetic testing of family members, and the anxiety that accompanies this.

We were able to gather views about how and when we should ask people awaiting a cancer diagnosis about whether they might volunteer for genetic testing, and how the consent interviews might fit in with travelling to hospital for treatment or tests.

Our contributors spoke of the importance of people having as much information as possible and the value of having a trusted professional to whom they could turn for advice and counsel.

As we now finalise our clinical pathways and start the new services here in the West of England, we will build all this intelligence and experience into our service design. The next steps are that we will invite all these public contributors to join an advisory group to ensure the services have a good start over the coming months.

Very sincere thanks to all who have helped us so far.