The 100,000 Genomes Project: ensuring the public and patient voice is heard

Our Public & Patient Involvement (PPI) Manager, Hildegard Dumper recently took part in a consultation event focusing on the issue of informed consent for people signing up to the 100,000 Genomes Project. She shares her thoughts and reflections…

Genomics England in conjunction with NHS England are running a series of consultations is running series of consultations around the country on changes being considered in order to make it easier for people agreeing to take part in the project. The aim is to do so without compromising the necessarily rigorous framework for informed consent.

There are currently 13 GMCs in the UK, including one in the West of England, working with Genomics England to deliver the 100,000 Genomes Project, which is the largest national sequencing project of its kind in the world.

100,000 genomes from NHS patients with rare diseases and cancer will be sequenced and analysed, to better understand the genetic causes of these diseases.

The West of England AHSN is one of the partners in the West of England Genomic Medicine Centre, leading on public and patient involvement (PPI). I was invited to join a consultation workshop in Taunton, hosted by the South West AHSN, along with Adele Webb, a public contributor on both our AHSN board and the West of England Genomic Medicine Centre’s board.

So on a sunny Friday morning, Adele and I met at Taunton train station to share a taxi to the Musgrove Hospital Academy. There we met up with the two researchers running the evaluation from Imperial College London, as well as three more public contributors from the South West.

Markella Boudioni, a researcher from NIHR Imperial Biomedical Research Centre, Patient Experience Research Centre and West London Genomic Medicine Centre explained the background to the evaluation, taking us through the issues and key questions they were trying to address.

A considerable amount of time was spent on the issue of patients receiving information about other conditions that might be discovered unexpectedly, whether and how we should invite people to opt in or out of that. This opened up a particularly thoughtful discussion about the huge impact on families of sharing the information that an inherited condition was present in the family and its implications for the future. We were able to bring to this our personal experiences.

It clearly is in Genomics England’s interest to understand this, as one way or another there are clear resource implications. The current paperwork is considerable but it is difficult to know how they might get around some of the questions around consent that need to be asked.

We were asked to review current patient information material, including consent forms for both cancer and rare disorders and opt in and out forms.  The discussion ranged over the style of written material for patients, how to mitigate the bulk of text and the use of plain and accessible language.

We also covered different methods of presenting information in order to be inclusive – offering alternatives to online access, for example. In considering recruitment, we looked at the key points in the patient pathway and how recruitment might be more effectively embedded in the process, together with different PR approaches to encourage take-up.

Markella was very skilful at pursuing clarification, channelling our thinking on key issues and in encouraging suggestions and improvements to the patient approach.

The focus group was clearly helping to inform the moves to improve the material being given out. It felt like a very practical and positive contribution towards the patient experience and pathway, especially when we were invited to propose and explore solutions.

Both Adele and I found it extremely useful to have been part of the consultation as it helped us understand some of the challenges faced by NHS England in rolling this out and gave us a deeper appreciation of some of the ethical dilemmas associated with the project.

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.

Going the extra mile for Genomics

Deborah Evans, Managing Director of the West of England AHSN, shares her experience of interviewing people as part of the 100,000 Genomes Project.

When I first joined the NHS, in a busy District General Hospital in the South Wales Valleys in 1982, I was inspired by the way that staff were all going the extra mile to support their hospital. They were raising money, volunteering, working extra hours and generally pouring their hearts into the NHS ethos of altruism.

I’ve always thought of my time in South Wales as more of an education than a training (!) but that impressive commitment has always remained with me.

Over the last few weeks a number of us have been doing qualitative interviews with people who have experienced rare diseases or cancer, and their carers.

The idea is that through the 100,000 Genomes Project, the NHS will be the best in the world at harvesting blood and tissue samples, so that we can learn more about the human genome and benefit from wider genetic testing to directly improve services for both current and future patients.

In our telephone survey work I have heard inspiring, first-hand 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.  Sometimes they have lost their partner or experienced the long term illness and disability of a child or sibling. Sometimes our respondents are facing painful, distressing disability themselves.

It has been humbling, challenging and uplifting to talk to these people who are, nevertheless, fundraising, volunteering in outpatient clinics, working with Health Watch or even playing national and international roles in non-statutory organisations to help people they’ve never met.

Through our telephone interviews we have, as always, gathered very rich and useful insights that will help us plan our new services for the West of England Genomics Partnership.

But for me it has been much more than this. Every person I’ve spoken to has reminded me why I joined the NHS in the first place.