Month: February 2018

Rare Disease Day – embedding patient experience at the heart of rare disease research

As the world marks Rare Disease Day on 28 February, Genomics England explores patient and clinical perspectives of rare disease.

In this blog we hear from Rebecca Middleton − taking part in the 100,000 Genomes project’s rare disease programme and Vice Chair of the Project’s Participant Panel.

In an accompanying blog we hear from Dr Richard Scott, Genomics England’s Clinical Lead for Rare Disease. While coming at the rare disease experience from different directions, they share the idea of progress, challenges – and hope.

Embedding patient experience at the heart of rare disease research

“I was sat drinking tea at my uncle’s wake nearly five years ago when the penny finally dropped. My maternal uncle had died due to a ruptured aortic aneurysm a week earlier; he was 62. Five years earlier my mother had died at the age of 59 of a brain haemorrhage due to a ruptured cerebral aneurysm. Talking to my relatives at the wake, my cousins and I started to pull the pieces together of the most unfortunate puzzle. We realised that a further two relatives had died of complications due to aneurysms, both aortic and cerebral, including my maternal grandmother.

We all fell silent as we realised that an unfortunate coincidence was, in fact, looking like an unfortunate flaw in our genes. After further research and talking to many experts in the field, I finally underwent a brain scan in 2014 to discover that I too had a brain aneurysm and the genetic flaw continued down our family line.

My small aneurysm is in a difficult position which means it can’t be treated without big risks, so I undergo regular monitoring and learn to live with the anxiety it brings. Along the way, I was diagnosed with familial aneurysm syndrome, a broad-brush label for an unknown fault in my genes.

Since this discovery, I have been on a remarkable journey. After existing NHS genetic testing didn’t find the answers I was looking for, I was recruited onto the 100,000 Genomes Project, became a participant on my local project delivery board in Leicester and Vice-Chair of the national 100,000 Genomes Project Participants Panel.

I am incredibly proud to sit on the local and national panels, which are at the heart of Genomics England. The Participants Panel is made up of participants from both the rare disease and cancer parts of the project and works incredibly hard to ensure our interests are represented and our valuable data used responsibly by the medical and research community.

Rare disease is complex and so is living with it. There are over 6,000 rare diseases, often presenting themselves in their own unique way. Today, one in 17 of us is living with a rare disease and each of us has had a very different and difficult journey to the door of our genetic counsellor or hospital consultant.

Rare disease day this year throws a spotlight on the patient’s involvement in research. A place where we should naturally be. It’s our ‘uniqueness’, experience and knowledge of our own disease that makes us the best placed experts to work with researchers to move medicine and understanding forward.

And that means more than being told about research, but rather being an active player in how it is developed, carried out and reported. As technology and the optimisation of big data progresses, it becomes critically important that we, as patients, work with researchers and the medical community to design research that answers our critical questions. We should be seen more than a sum of our symptoms; our voices not lost in the 3.2 billion letters of our genome.

I’m pleased to say that the national Participants Panel of the pioneering 100,000 Genomes Project reports straight to the project’s governance board. We have a loud voice at the top table. It is ground-breaking patient involvement for a ground-breaking project. We are not ‘token’ patients but have helped deliver real change for the benefits of patients and their carers already, with the support of the project team.

As the NHS aims to bring genomics from the side-lines of medicine to the mainstream by the end of the year, there is a real opportunity and appetite for meaningful patient involvement at every level of the service.

For myself and many others, research means hope. As we often have little control over our disease, it is that hope that keeps us searching for answers for ourselves and our families – or in my case for the sake of my two beautiful, young daughters. By active and effective involvement of patients in rare disease research and service design, we too can move forward from the side-lines and be central to finding future cures, treatments and better care for families. Through involvement, we become an asset as well as a patient. Let’s make that hope a reality.”

Rebecca Middleton is Vice Chair of the 100,000 Genomes Project Participant Panel.

Rare Disease Day – rare diseases aren’t rare

In this blog Dr Richard Scott talks about the long path to diagnosis for many people with rare diseases, and the challenge of raising awareness amongst the public and healthcare professionals.

As the world marks Rare Disease Day on 28 February, Genomics England explores patient and clinical perspectives of rare disease. In an accompanying blog we hear from Rebecca Middleton on how through the 100,000 Genomes Project, patient experience is being placed at the heart of rare disease research. While coming at the rare disease experience from different directions, they share the idea of progress, challenges – and hope.

Rare diseases aren’t rare – so it’s important we focus on them

Rare Disease Day was first launched 10 years ago by EURODIS − an alliance of patient-driven organisations in Europe. It’s now a worldwide phenomenon.

Why the focus on rare diseases you ask? Are there not more mainstream problems to focus on? Well, the name is misleading. Rare diseases are individually rare − by definition − affecting less than 1 in 2,000 people. But there are an estimated 6,000 or so of them, meaning that they are collectively common: an estimated 1 in 17 of us is affected.

Rarity brings with it problems, but they don’t stop there. At least half of rare disease affect children. And their impact is often severe – sadly, 30% of those with rare disease die before their 5th birthday. The impact on health and normal life is often substantial, even in those less severely affected. The diseases are typically lifelong and often affect multiple organ systems of the body.

In the ten years since the launch of Rare Disease Day, there has been much progress. There has been increasing recognition of the importance of rare diseases and increasing focus of governments and health systems. In the UK, the Department of Health issued a Rare Diseases Strategy in 2013 and will today issue an update on progress.

The long path to diagnosis – the so called ‘diagnostic odyssey’ – has been a major area of focus. It needs to be. Surveys show that it takes an average of five years to receive a diagnosis and 40% of patients are misdiagnosed.

Most rare diseases are thought to have genetic cause and the great advances in genomics in recent years are helping. Now it can cost as little as $1,000 to sequence a whole genome, although that doesn’t include the costs of interpreting the data and generating a clinical report. Other forms of genetic testing are cheaper too.

In the UK we are lucky to have access to whole genome sequencing for rare disease patients on a research basis through the 100,000 Genomes Project, on which I work. We’ve now reached the half way mark in the project, having sequenced over 50,000 genomes, and are working closely with NHS England to develop the systems that will allow genome sequencing to enter mainstream diagnostic use. This will again place us right at the forefront of rare disease genomics − but that shouldn’t make us complacent.

Even with the very best technologies available, rare disease diagnostics remain hard. In many settings, the majority of patients remain undiagnosed. Our knowledge is advancing rapidly, but is still far from complete. We all carry hundreds of rare genetic variants and it can be challenging to spot the variant that is the cause of a person’s rare disease, even if it’s in a well-known gene.

In the UK we have a long history of close work between genomics laboratories and clinicians. This new era of genomics will require even closer laboratory-clinical working to ensure we fully harness the extraordinary potential of the technologies we now have in our hands.

In the context of these great scientific advances, some of the biggest challenges we face may seem prosaic. Simply recognising that someone might have a rare disease is often challenging. How do we make the public and primary care and front line mainstream medical teams aware of these individually rare conditions?

By raising the profile of rare diseases as a whole, efforts such as Rare Disease Day are already beginning to have an effect. Broader education of the medical workforce about genomics is also helping. But there’s a long way to go and other approaches will be necessary. Increasing integration of genomics services with mainstream specialties is vital. With increasing use of electronic health care systems, there are also great potential benefits from building systems that highlight the need to consider rare disease or refer for a specialist opinion.

But rare disease care is about far more than just testing and ending the diagnostic odyssey. Coordination of the complex care of rare disease patients is often challenging, but is essential for high quality care and can bring considerable psychosocial benefits and cost savings. Currently, many patients and families bear the burden of the task. This is an area in need of greater investment.

With most rare diseases hard to treat, even when a diagnosis is made, research must be at the core of the care we offer. And with the number of people with each disease so small, patients’ wishes to share their data broadly must be heeded.

While we should be grateful that there is an increasing patient voice bringing us events such as Rare Disease Day, the drive of patient groups shouldn’t be taken for granted. You don’t need to hear many stories of patient-led research initiatives to realise that the onus is on the medical and pharmaceutical communities to keep pace with the endeavour of those affected with rare disease.”

Dr Richard Scott is Genomics England’s Clinical Lead for Rare Disease

UK leads the world as 100,000 Genomes Project hits the 50,000 genomes landmark to transform NHS patient care

The Department of Health and Social Care, NHS England and Genomics England today announced reaching the 50,000 whole human genome sequences landmark within the 100,000 Genomes Project.

It is a milestone that sets the UK on track to fully realise the potential of genomic medicine, deliver better care for patients and establish the UK as the global ‘go to’ destination in the fast emerging genomics sector.

Genomics England was established in 2013 as a wholly owned company of the Department of Health and Social Care by the Secretary of State, Jeremy Hunt. It is tasked with the delivery of the groundbreaking 100,000 Genomes Project, which is sequencing 100,000 genomes from 70,000 people, focused on patients with rare diseases, their families, and patients with cancer.

In stimulating genomic research and discovery, Genomics England aims to improve patient care and establish the UK as the centre of the global genomics industry.

Achieving the 50,000 genomes landmark has only been made possible through the generous participation of tens of thousands of patients and their families – taking part in a Project at the edge of known science. Staff in NHS Genomic Medicine Centres (GMCs), as well as those in Northern Ireland, Scotland and Wales, have worked tirelessly to not only deliver the Project, but in many cases, also pioneered totally new systems, processes and procedures to ensure that genomic medicine can become part of routine NHS care.

The project is already changing the lives of patients with a rare disease – often providing diagnoses for the first time after years of uncertainty and distress (known as the diagnostic odyssey), as well as working towards reducing costs to health and social care budgets. In cancer, significant progress has been made in tackling the global challenge of extracting of DNA of sufficient quality for whole genome sequencing – leading to significant redesign of tissue handling in the NHS.

The scope and scale of the 100,000 Genomes Project, unparalleled anywhere else in the world, has been made possible through the UK’s unique asset − its National Health Service. The NHS, as the single biggest integrated healthcare system in the world, is able to link lifelong healthcare information with whole genome sequencing data. It is a combination that brings benefit to patients whilst also demonstrating the UK’s competitive advantage in enhancing understanding of diseases, and developing products for earlier detection and treatment.

Health Secretary Jeremy Hunt said:

“This incredible achievement shows once again why the UK is a world leader in genomic medicine.
“We’re backing our world-leading scientists and clinicians in the NHS to push the boundaries of modern science and embrace new technology – using data to transform the lives of patients and families through quicker diagnoses and personalised treatments.
“It is testimony to the hard work of the clinicians and scientists across the NHS and volunteers for the project that we can continue to harness the very best of the NHS and remain at the forefront of this pioneering field.”

Genomics England Executive Chair, Sir John Chisholm, said:

The 100,000 Genomes Project was a stunningly ambitious project when announced by the (then) Department of Health five years ago. Since then Genomics England and NHS England (now joined by Scotland, Northern, Ireland and Wales), working with a huge number of ground-breaking partnerships, have built the infrastructure and protocols to deliver health-enhancing diagnostics from consented patients with undiagnosed rare genetic disease and common cancers, while at the same time enabling their data (in de-identified form) to provide the basis for research leading to improved therapies and treatments. Having built the platform and reached the 50,000 halfway point we are now able to operate at a scale to complete the target by the end of 2018.

Professor Sue Hill OBE, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England, said:

This is an important milestone for the project and has only been possible because of the contribution and commitment of the participants in the project and their families.
“The milestone also marks how healthcare professionals from across the NHS have come together to transform care for the future, demonstrating how this technology can be utilised as part of routine care to improve patient lives and keep the NHS a world-leader in this important area of medicine. Working together patients and professionals have achieved so much and I would like to say a personal thank you to each and every one for playing their part.
“We are on track to complete recruitment to the Project this Autumn and, from then, the use of these cutting-edge genomic technologies will be embedded in the NHS through the new Genomic Medicine Service offering real benefits to patients and healthcare delivery.

Francis deSouza, President and CEO of lllumina (the 100,000 Genomes Project’s sequencing partner), said:

This important milestone in our partnership with Genomics England marks a significant step towards delivering whole genome sequencing at scale into the NHS and provides physicians with the data to make diagnoses based on a patient’s genome that will lead to better health outcomes.

Wales joins the 100,000 Genomes Project

Wales has joined the 100,000 Genomes Project, the Welsh Government announced today.  The project, now a UK-wide initiative, seeks to transform patient care, encourage genomic discovery and drive a thriving genomics sector.

In an agreement between Cardiff and Vale University Health Board (CVUHB), Cardiff University and Genomics England (the company leading the Project across the UK), 420 whole genome sequences (WGS) have been commissioned for patients with rare diseases and their families, in Wales.

The 100,000 Genomes Project aims to sequence 100,000 genomes from 70,000 people with rare diseases and their families, as well as those with cancer. To date, almost 50,000 whole genomes have been sequenced, with the ultimate 100,000 WGS milestone due to be reached by the end of 2018.

Welsh rare disease patients and their families, who choose to participate in the 100,000 Genomes Project, may be provided with a diagnosis and spared years of uncertainty and distress (often known as the diagnostic odyssey). With more precise and rapid diagnosis, there is also the potential to reduce pressure on Welsh health and social care budgets.

Today’s announcement brings together the Welsh Government, AWMGS, CVUHB, Cardiff University, the Wales Gene Park, the Medical Research Council (MRC) and Genomics England to establish the first Genomic Medicine Centre (GMC) in Wales. This joins 13 other NHS GMCs in England, the Northern Ireland GMC and the Scottish Genomes Project. The Wales GMC, based at the University Hospital of Wales site in Cardiff, has been supported by the Welsh Government and the MRC, which contributed £2.4 million and £1 million in funding respectively.

Participation in the 100,000 Genomes Project supports the Welsh Government’s ‘Genomics for Precision Medicine Strategy’, which sets ambitious goals for genomic medicine, including the development of:

  • internationally recognised medical and public health genetics services;
  • internationally recognised research in genomics and excellent platforms for precision medicine;
  • new strategic partnerships in genomics and precision medicine; and
  • the NHS and research workforce to underpin the delivery of genomic medicine.

Professor Mark Caulfield, Genomics England Chief Scientist, said:

“Genomics is transforming healthcare and our ability to diagnose and treat rare disease and cancer. In joining the rare disease programme of the 100,000 Genomes Project, Wales has placed itself at the centre of genomic medicine revolution that will greatly improve patient outcomes, encourage exciting new discoveries and drive a world leading genomics industry.”

Health Secretary, Vaughan Gething said:

“We are delighted that Wales has joined the 100,000 Genomes Project. The collaboration with Genomics England will enable patients with rare diseases in Wales to benefit from this exciting and transformational project, with the potential to bring quicker and more accurate diagnoses.”

The Director of the Division of Cancer and Genetics at Cardiff University School of Medicine and Honorary Consultant in Clinical Genetics with Cardiff and Vale University Health Board, Professor Julian Sampson, who leads the project in Wales, said:

“Patients in Wales with rare conditions in whom routine testing failed to make a diagnosis now have a chance to access the most comprehensive genetic test available; sequencing of their entire genome. This will increase the chances of achieving a specific diagnosis to inform their health care. Wales’ participation in this UK-wide project is helping to establish genomic medicine in the NHS.

“This will have far-reaching benefits for the understanding, diagnosis and treatment of many conditions.”

Chief Scientific Advisor for Health, Dr Rob Orford said:

“A key component of the Welsh Government’s Genomics for Precision Medicine Strategy is the creation of the collaborative Genomic Medicine Centre (GMC). The GMC will act as a springboard for the translation of cutting edge genomic research into better services and treatments for people of Wales.”

Dr Nathan Richardson, head of molecular and cellular medicine at the MRC, said:

“We welcome these very exciting developments that will help to establish a strong Wales-England partnership, which brings together patient genomes to enhance our ability to tackle the biggest challenges in understanding the role of human genetics in disease.  We are excited by the prospects of people in Wales – and throughout the UK – who are affected by a rare condition and will benefit hugely from a new era of genomic medicine.”

The 100,000 Genomes Project is now a UK-wide initiative with recruiting centers in Northern Ireland, Scotland and Wales

More information:

North Thames colleagues join genomics research and innovation fellowship scheme

HEE North Thames Fellows
(from right) Jana Vandrovcova, Daniel Lindsay, Celine Lewis

Three colleagues from across the North Thames region have been selected to join a prestigious new research and innovation fellowship launched by Health Education England’s (HEE) Genomics Education Programme.

A reception attended by leaders in science and healthcare took place on 30 January at the House of Lords to celebrate the official launch of the Genomics Research and Innovation Fellowship Scheme.

The HEE funded scheme was created to increase the capability and capacity of the current workforce, by giving candidates an opportunity to actively engage with genomics research with the aim of bringing new-found knowledge and skills into practice within the NHS. It was first announced in November 2016 and, after a rigorous 10-month application process, nine successful fellows were announced in October 2017.

The three fellows and their research topics from the North Thames region include:

  • Celine Lewis – Exploring and enhancing decision making about genome sequencing among young people
  • Jana Vandrovcova – A search for the missing: the utility of whole genome sequencing in clinical grade diagnostics of hereditary neurological disorders
  • Daniel Lindsay – Germline alteration in cancer exomes/ genomes

Fellows will contribute to the work of the Genomics Education Programme and will also become active members of the Faculty of Genomic Medicine.

Full details of all the fellows are available here.

‘Genomics in Medical Specialties’ series launched

The Genomics Education Programme (GEP) has been working in collaboration with champions of genomics from a range of clinical specialisms to produce a series of short films and accompanying information focusing on the impact of genomics. The first three films, ‘Genomics in Cardiology’, ‘Genomics in Pathology’ and ‘Genomics in Primary Care’ launched this week.

As genomics becomes embedded into routine care, those working in specialist clinics need to have an awareness of genomics and its application. This new series aims to provide key facts and useful information specific to each specialty.


Dr James Ware, Clinical Senior Lecturer at Imperial College London and Consultant Cardiologist at Royal Brompton and Harefield NHS Trust, gives an overview of the latest advances in genomics in cardiology. This information will be of interest to those concerned with the latest developments in patient care and treatment, such as consultants and senior nurse specialists.


Dr Jane Moorhead, Consultant Clinical Scientist in Histopathology at Kings College Hospital, and Professor Louise Jones, Consultant Pathologist at Barts Health NHS Trust and Professor of Pathology at Barts Cancer Institute, explain the latest developments in pathology and cancer treatment. This information will be useful for pathologists and clinical and biomedical scientists.

Primary Care

Dr Jude Hayward, a GP with a special interest in genetics and genomics, explains the importance of genomics in primary care and the role that primary care practitioners play in the delivery of personalised medicine. This information will be useful to all primary care professionals, including GPs, practice nurses, nurse practitioners, physician’s associates and healthcare assistants.

The films and accompanying information are now available on the GEP website. More films are due to be released this spring.

Verge Genomics joins the Discovery Forum

Verge Genomics joins the Discovery Forum to transform pioneering research into frontline patient treatments.

Genomics England and Verge Genomics, a leading artificial intelligence therapeutics company, announced today that Verge will join Genomics England’s Discovery Forum industry partnership. The partnership aims to translate groundbreaking research into innovative treatments, and ultimately patient benefit, as rapidly as possible.

The Discovery Forum provides an engagement platform for industry partners, academia, the NHS, and the wider genomics community. More than 30 of the world’s leading genomics companies come together within the Forum to work in a pre-competitive environment with access to whole genome sequences from the 100,000 Genomes Project.

Verge brings additional strengths to the Discovery Forum, with its extensive and growing network of data partnerships. In late 2017, Verge announced two public-private partnerships with a dozen academic and national institutions, leading to the creation one of the world’s largest collections of ALS and Parkinson’s Disease patient data. In January 2018, Verge announced a collaboration with Datavant, a Roivant Sciences-backed company focused on data aggregation to improve clinical trials, to unlock the value of one of the world’s most extensive collections of patient genomes and clinical data.

Alice Zhang, Verge Genomics CEO, said:

“Verge is committed to integrating datasets held by industry, academic and government partners, because we believe that shared understanding will drive ever more effective treatments for patients around the world. We are honored to share this mission with Genomics England.”

Professor Joanne Hackett, Genomics England Chief Commercial Officer, said:

“Industrial partnership is critical to unlocking the true potential of genomic medicine. In combining the unique scale and richness of the Genomics England dataset with the expertise and relentless innovation of companies such as Verge, we can rapidly turn pioneering research into frontline patient care.”