Genomics England is today (26/04/16) pleased to announce the appointment of Professor Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI) and a Senior Scientist at the European Molecular Biology Laboratory, to the Genomics England Board.
As a member of the Board, Professor Birney will play an important role in overseeing all of Genomics England’s activities, ratifying major decisions and setting the overall strategy for the organisation.
Genomics England was set up by the UK’s Department of Health to deliver the 100,000 Genomes Project, which aims to enable new scientific discoveries, medical insights and advanced diagnostics. When completed, the project will enable the NHS to offer genomic medicine and personalised treatments to patients with conditions that are currently hard to treat.
Professor Ewan Birney joins the Genomics England Board as one of the UK’s leading genomic scientists. His research has had a major impact in improving our understanding of genomic biology. Professor Birney worked on the initial human genome project, and led the analysis group in the first two phases of the large-scale, international ENCODE project, which is working systematically to define functional elements in the human genome. His current research focuses on algorithms and statistical methods to analyse genomic information, compression of sequencing data and methods to use DNA as a digital storage medium.
As Director of EMBL-EBI, Professor Birney is a trusted advisor to governments and industry on genomics data management, and sits on the Scientific Advisory Board of a number of organisations, including the Berlin Institute of Health in Germany.
Sir John Chisholm, Executive Chair of the Genomics England Board said:
“We are delighted to welcome Ewan to our Board. His world-leading expertise will be invaluable as we work towards delivering benefits directly to patients through whole genome sequencing.”
Professor Ewan Birney said:
“EMBL-EBI’s medical strategy focuses on transferring skills from academic research to medicine, and nowhere is this more important than in bringing genomics and bioinformatics into the clinic. I am excited to be appointed to the Board of Genomics England, and see this as an opportunity to bridge the technical expertise offered by our institute and the needs of national healthcare systems. I hope this relationship is the first of many in Europe, and that I can contribute in some way to the success of these transformative endeavours.”
Health Education England’s Genomics Education Programme (GEP) is now accepting applications for funded places on the Masters in Genomic Medicine course and individual modules of continuing professional and personal development (CPPD) for the coming 2016/17 academic year.
The Masters in Genomic Medicine and associated CPPD modules have been designed to support the introduction of personalised medicine into the NHS, the work of NHS Genomic Medicine Centres and the 100,000 Genomes project.
The full course and a number of individual modules are available through a national network of nine universities, with the Master’s offered as a one-year full-time or a two-year part-time study option. Open to all NHS healthcare professionals, the course aims to enhance knowledge and skills in this rapidly evolving field.
Over the next few months, Genomics England and the BSA will be working together to run a series of Future Debates in the summer, as well as publishing a social intelligence report in the late spring.
Genomics England want to showcase the potential benefits whole genome sequencing can offer patients, but also want to understand public concerns. The aim of the BSA’s Future Debates are to empower many more people – not just scientists – to constructively engage in debates over science’s role in their lives, their local economy, and the UK’s future.
Vivienne Parry, Genomics England’s Head of Engagement, said:
“It’s very important that debates about the future of genomics and the use of data in healthcare take place at a local level. So we are very excited to be working with the British Science Association and its great local networks on ‘Future Debates’. Having long been involved with the BSA, I know that through them, we’ll have a great series of lively debates.”
Imran Khan, Chief Executive of the British Science Association, said:
“I am delighted that Genomics England have decided to work with us on this new partnership on the 100,000 Genomes Project. At the British Science Association we strongly believe that more people should feel empowered to constructively engage in debates over science’s role in our lives, our society, and the UK’s economy.
“Genomics England’s work is vital to helping us adapt to and shape a future where our genes and genomes will have a bigger impact on our health and wellbeing. We hope that this series of debates in the summer will not only help the UK public feel more invested in genomics research but will also allow them to have a say on its direction.”
‘How easy is it to strike up a conversation about DNA and genomics? Geno-what?’
Image from one of the animations #glitch
This is a challenge faced by scientists and the general public ever since the first human genome was mapped fifteen years ago. A new project, Socialising the Genome, is now underway to find out how to make genomics a more social concept.
The last Wellcome Trust Monitor survey said only 12% of the population would say they had a good understanding of what a genome is.
With the UK leading the world’s largest genome sequencing project, the ‘100,000 Genomes Project,’ aimed at transforming how we are treated in the NHS, the science around genomics needs a conversation boost.
Image from one of the films #DNAZING
So, what sort of narratives, metaphors, mantras and memes – can we use to socialise an otherwise dense topic that even the specialists find difficult to navigate? Dr Anna Middleton, Genetic Counsellor and Social Scientist at the Wellcome Trust Sanger Institute says, ‘These are questions that I’ve been thinking about my whole career.’
‘Genetic information is not only important to individuals but also potentially to those nearest and dearest too – it really is a social concept’.
‘Socialising the Genome’ is an engagement project funded by Genomics England, the Wellcome Trust and the Wellcome Trust Sanger Institute. It is led by Dr Anna Middleton working with Julian Borra, Global Creative Strategist, and Founder of Thin Air Factory and ex Saatchi and Saatchi Group Creative Director.
Julian explains, ‘A chasm exists between the world of academia and the sciences and that of the everyday person in the street. There needs to be a process of acclimatisation when travelling between one and the other.’
Drawing from one of the animations #searchme
Vivienne Parry, Head of Engagement at Genomics England says, ‘If genomic medicine is set to become part of mainstream healthcare in the NHS then we know that every one of us will experience more of it in the treatment of ourselves or our families’
Anna Middleton says, ‘We don’t yet know how to make genomics an everyday conversation for people currently unconnected to it. We don’t know what messages about genomics are meaningful to the public.’
One of the animations #reasonstobecheerful
‘Socialising the Genome’ has done a series of focus groups with members of the public to explore what people already understand about DNA and genomics – even if they think they know nothing – and how they are currently talking about it. Insights from these have been given a creative makeover using skills employed in the advertising industry and turned into six animations.
The animations can be seen at www.genetube.org and the research team now need to know what the public think about them. Are the ideas in the animations likable? Do they resonate? But most importantly are they sharable and could they be used as a starter for a conversation?
One of the animations #Gnome
Dr Audrey Duncanson, from the Wellcome Trust, added: “There have been some remarkable advances in genome research in recent years, many of which are poised to transform patient care, through improved diagnosis and better treatments. In such a rapidly progressing field, it’s vital that we maintain and open dialogue between scientists and the public, so that as many people as possible can benefit from the advances in genomic medicine.”
Julian Rayner, Director of Scientific Courses, Conferences and Public Engagement at the Wellcome Genome Campus said, “Genomics is going to be an increasing part of both science and everyday life in the coming years. On the Wellcome Genome Campus we are committed to helping people understand the science and implications of genomics, and listening to their hopes and worries. Anna’s exciting work will help us start those essential and fascinating conversations.”
By Dr Anna Middleton, Principal Staff Scientist (social science, ethics, genetic counselling), Wellcome Genome Campus, Cambridge.
How easy is it to strike up a conversation about genomics? Geno-what?
Image from one of the animations #glitch
Does the average person on the street know enough about the issues to even care? A project called Socialising the Genome has just been launched to explore how to turn genomics from an anti-social concept to a more social one. Animations were created from focus group discussions to help understand how people talk about genomics, and what they understand. These animations are now on the newly launched website www.genetube.org
Image from the #gnome animation
It’s not just science of genomics that can seem impenetrable. Just the name itself can take people in all kinds of odd directions. [Several focus group participants assumed there to be a ‘mistake’ in pronunciation: sounding the silent ‘G’ in Gnome. This takes us off into all sorts of interesting tangents about the options for ‘Gnome testing’!]
The first time people might experience genomic technology is when being tested as part of routine healthcare and something genetic or inherited is picked up. Given that genomics is now becoming a mainstream source of data within most disciplines in medicine, it is likely that all of us will have some sort of genomic test at some point in our lives.
Some of us will care little for the science behind those tests – in much the same way many of us know little of the engine under the bonnet of our car. However, the impact of a genomic test result may be relevant, not only to you, but also your family (this makes it quite different from other sorts of medical tests that give individual health results). Such a test may also reveal information that is quite unexpected as many different medical conditions are tested in one go.
What hooks can be used to convey the concepts, make it personal, help it resonate?
Image from one of the animations #searchme
What sort of framings – narratives, metaphors, mantras and memes – can we use to socialise an otherwise dense topic that even the specialists find difficult to navigate? As a genetic counsellor, these are questions that I’ve been thinking about my whole career.
Reaching people with this, is a challenge; the science needs a conversation boost, it needs to feel meaningful, relevant and not least of all, it needs to be memorable so that the content can be relayed to relatives. After all, genetic information is not only important to individuals but also potentially those nearest and dearest too – it really is a social concept.
Image from one of the films #reasonstobecheerful
In the ‘Socialising the Genome project’ we are thinking carefully about what people already understand about genomics – even if they think they know nothing – and we have built on this to create a series of animations that can help to start a conversation about genomics with patients using the NHS.
The project is particularly exciting due to the novel partnership we have set up between social science (me) and the creative advertising world (Julian Borra Global Creative Strategist and Founder of Thin Air Factory and ex Saatchi and Saatchi Group Creative Director). Julian and I are using our collective skills to see if we can create a ‘populist, scalable conversation’. I provide the material; he provides the razzamatazz.
Image from an animation
I have done a series of Focus Groups to explore what various groups of ‘public’ understand and believe already about genes, DNA, genetics and genomics. The insights gained from these have been given a creative makeover and turned into 6 animations. These animations will be evaluated via a set of questions to assess likeability, interest and whether the concepts inspire people to want to share them in some way.
The reason I feel particularly excited to be working directly with Julian is that he has a strong track record of delivering advertising messages that reach millions of people (know of the Churchill Insurance nodding dog? How about Richard Branson’s #VOOMPitch to Rich? Both of these are Julian’s handiwork).
We don’t yet know what messages about genomics resonate with people nor what information they feel they need to know and this is what Julian and I have been puzzling over in considerable detail for the last year. We have created a new partnership that aims to combine our collective skills. Together we plan to discover new messages to deliver information about genomics – messages that connect people to the science, messages that they want to share, and messages that help them when discovering genomics for the first time in the NHS.
Image from an animation
In that way we hope to rub some of the more anti-social corners off the deeper science conversations – and bring them to the dinner, café, chippy and brasserie table, so we can all benefit from having them and sharing them.
The animations can be found at www.genetube.org. Have a look, see what you think, leave us your views. We need to know if they are any good or not; and if not, then that’s useful to know too. We need to find out how to make genomics an everday conversation for people currently unconnected to it and this is just a first step at finding out how to do this.
Dr Richard Scott, Consultant in Clinical Genetics at Great Ormond Street Hospital and an Honorary Senior Lecturer in the Clinical and Molecular Genetics Unit at the Institute of Child Health, wrote a piece for the Huffington Post blog yesterday for Rare Disease Day.
Scottish Genomes Partnership backed by £6 million.
Minister for Sport, Health Improvement and Mental Health, Jamie Hepburn has announced a £6 million investment in the Scottish Genomes Partnership (SGP), ahead of a parliamentary reception to mark Rare Disease Day.
The SGP is a collaboration of Scottish Universities and the NHS capitalising on £15 million investment in whole genome sequencing technology by the Universities of Edinburgh and Glasgow. The Scottish Government is contributing £4 million and the Medical Research Council, £2 million.
By combining knowledge of the whole genome sequence – or the entire genetic code – of patients and information from their health records, genetic diseases can be understood better and new ways to test, manage and treat these diseases devised.
SGP will be using this technology for genomic research on rare diseases, cancers and Scottish populations, and to work with Genomics England on the diagnosis of patients in Scotland with rare genetic diseases.
Mr Hepburn said:
“This is a really exciting announcement. Through our investment in the Scottish Genomes Partnership and the collaboration with the Medical Research Council and Genomics England, NHS Scotland may be able to offer more rapid diagnosis to rare disease patients or a diagnosis where one hasn’t been possible before, improving the lives of patients with these conditions.
“Allied to our investment in SGP’s genomic research programmes, the new knowledge gained can improve our understanding and help the development of new tests, drugs and treatment strategies for rare diseases and cancers to benefit patients. This investment in cutting edge science can also create new opportunities for research and the life sciences sector, and enhance Scotland’s reputation for clinical research and innovation.”
Chief Scientist at Genomics England, Professor Mark Caulfield said:
“I am delighted that Scotland is joining the 100,000 Genomes Project. This will bring new diagnoses for patients with rare disease and extends the benefits further across the UK.”
Professor Tim Aitman, Co-Chair of the Scottish Genome Partnership and Director of the University of Edinburgh’s Centre for Genomic and Experimental Medicine said:
“This funding creates a unique opportunity to translate the investment of Scottish Universities into immediate healthcare benefits for Scottish patients. The remarkable advances in genome technology over the past five years will now be available to patients in the Scottish NHS, bringing a new dimension of healthcare to Scottish patients with cancer and inherited diseases. We look forward to working with our partners in the Scottish NHS, the Scottish Universities and Genomics England on this landmark project.”
Professor Anna Dominiczak, Vice-Principal and Head of the University of Glasgow’s College of Medical, Veterinary and Life Sciences said:
“We are very pleased and proud to be a partner in the Scottish Genomes Partnership, and welcome this further investment into the future of precision medicine in Scotland.
“The SGP will play a significant role within the recently-established Scottish Ecosystem for Precision Medicine, which will co-ordinate clinical, laboratory and informatics resources and opportunities across Scotland.
“Through collaborations like the SGP, and a partnership with Precision Medicine Catapult to lead the National Centre of Excellence, Scotland will be at the forefront of developing cutting-edge precision medicine technologies, with the aim to deliver the right drug for the right patient at the right time.
“We’re extremely proud to playing a leading role in the SGP, and the wider Scottish Precision Medicine Ecosystem.”
Dr Nathan Richardson, Head of Molecular & Cellular Medicine at the Medical Research Council:
“We are extremely pleased to be jointly investing with the Scottish Government to help support their ambitions in genomic medicine. This is part of a broader MRC ambition to enhance investment in genome research across the UK and complement our major investment in Genomics England.
“Recent technological advances in genome sequencing alongside developments in assimilating and interrogating vast and complex data sets offers exciting opportunities to better understand disease and improve precision healthcare. It is quite apt that this announcement comes on Rare Disease Day as this new funding embodies our continuing commitment to investigate the root cause human diseases and improve human health.”
Professor Zosia Miedzybrodzka, Professor of Medical Genetics University of Aberdeen and NHS Grampian, Chair of Scottish Clinical Genetics Forum said:
“NHS Scotland genetics professionals are delighted that Scottish patients with rare diseases will have the opportunity to benefit from state of the art technology to help to determine the underlying genetic cause of their condition. This will directly help their medical care and that of their families, and will build a knowledge base that will benefit us all.”
Rebecca McEleney from Moray, whose six-year-old son Corey has severe autism, seizures and developmental delay said:
“I have fought for years to understand Corey’s disabilities. This project gives us as a family the opportunity to find out the cause of his needs to aid him and future generations.”
The Scottish Genomes Partnership was founded following a £15m investment by the Universities of Edinburgh and Glasgow in January 2015. This initial funding enabled the Universities to partner with Illumina for the purchase of state-of-the-art equipment for sequencing human genomes. The equipment enables researchers and clinicians in Scotland to study the genomes of both healthy and sick people on a large scale and faster than before.
SGP will start March 1 2016 and is aiming to enrol the first patients from NHS Scotland during summer 2016.
Our clinical lead for rare disease, Dr Richard Scott, gives an update on our work. February 29th 2016 is Rare Disease Day.
Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. This means that although each one is rare, as a group they are common. So much so, that 1 person in 17 is affected with a rare disease. That is 7%.
Until recently, these usually complex and long term diseases have been the second class citizens of the medical world. But now there is an increasing focus on them. It has been a long time coming. For years, people suffering with rare diseases have struggled to be diagnosed, let alone have access to the same expert medical advice and tailored treatment plans that have become the norm for many common long term disorders such as diabetes and heart disease.
The change has come thanks in large part to ‘patient power’ – witness today’s celebration of Rare Disease Day, the brainchild of the Rare Disease patient advocacy group EURODIS, to raise awareness of rare disease. Since its launch in 2008 it has spread to more than 80 countries.
In parallel, strategic responses to the unmet needs of rare diseases have been forthcoming. In the UK, publication of a National Strategy for Rare Disease in November 2013 has been part of the response. Today, an update from the UK Rare Disease Forum has been published, showing progress so far and what work is still to be done. The government also funded our ground-breaking 100,000 Genomes Project, which aims to transform healthcare for people with rare disease and cancer.
About 80% of rare diseases have a genetic cause. The cause is often a single changed ‘letter’ amongst the 3.2 billion letters of DNA that make up the human genome. Finding that one crucial change is often like finding a needle in a haystack. This first crucial step – identifying the cause of the disease – has remained challenging until now for most rare diseases. In turn, this has prevented medicine from answering the obvious next questions for rare disease patients: what should I expect in the future? Why has the disease happened? Is there a way of curing my disease or any hope of doing so in the future? Will my child have the disease?
The 100,000 Genomes Project is an opportunity to break the mould for patients in the NHS. We will sequence DNA from patients with rare disease and their relatives. By comparing their sequences with people without the disease and by tracking the inheritance of DNA changes through families, we can find the cause in people who medicine has failed to diagnose until now.
No-one has ever attempted whole genome sequencing on this scale before. Much of our work until now has been in establishing the tools and infrastructure we need to deliver results to 100s of participants a week.
Thirteen ‘NHS Genomic Medicine Centres’ have been commissioned to act as recruitment hubs, each with a network of local recruiting hospitals. Here, participants are identified and consented by local clinical teams and DNA samples and standardised medical data collected. The sequencing itself is performed in a purpose-built facility near Cambridge before the genome sequences are analysed alongside the medical data in a secure, monitored data centre.
The scale of the task is only possible because of the great power of the new sequencing technologies and computing. As Spiderman tells us ‘with great power comes great responsibility’ and it is with this sense of responsibility that we approach the work: both driving us to capture every ounce of available expertise and to exert the necessary caution when patient’s lives are influenced by the outcome of our analysis.
The Project bioinformatics team have established the core analysis ‘pipeline’, which is further enhanced by the input of genome annotation partner companies. This analysis infrastructure is supplemented by the expertise drawn from a collaboration of more than 2,000 academic researchers from across the UK and the world who form the ‘Genomics England Clinical Interpretation Partnership’ (GeCIP for short) and from the clinicians at the recruiting hospitals as they receive the sequence results and return them to the participants.
But the aims of the project do not end at interpretation of genome data for diagnosis. The GeCIP research community seeks also to understand the processes that lead to the diseases and to develop precision medicine approaches to their treatment. To enhance the speed with which potential treatment benefits can reach patients, we have established a unique partnership between our academic and NHS partners and companies from pharma, biotech and diagnostics. Through this collaboration, we are developing approaches that will reduce the length of time from the first identification of a cause of a condition to the development of life changing treatments.
We are already making our first diagnoses for families enrolled in the study. We hope that this will become commonplace and that the benefits won’t stop there, instead it will become the expectation of rare disease patients to receive the same standard of care and access to precision medicines as for common diseases.
Genomics England and Illumina, Inc today announce a partnership to develop a platform and knowledge base that can be used to improve and automate genome interpretation. The tools will operate within the Genomics England secure database to enable researchers and clinicians to access information and reports more readily.
Genomics England is partnering with Illumina to develop and deliver systems for clinical interpretation, decision support and knowledge curation for the 100,000 Genomes Project. This non-exclusive partnership with Illumina will run in parallel with the other clinical interpretation and bioinformatics providers involved in the 100,000 Genomes Project.
Illumina and Genomics England will collaborate to develop a set of informatics tools, which will support the delivery of genomic clinical and research services at a population scale to the NHS Genomic Medicine Centers and the Genomics England Clinical Interpretation Partners. All of the tools will include open application programming interfaces so that other bioinformatics solution partners can continue to provide services within the Project.
Under the terms of the partnership, Illumina will develop interpretation and reporting tools for the purpose of delivering reports on all genomes that are sequenced through the 100,000 Genomes Project. Genomics England will provide access to whole genome sequence and de-identified phenotypic data for the development of this suite of tools for personalised medicine. The tools will be used to curate and manage the knowledge base of information generated over the course of the project with a focus on rare disease and common cancers. Illumina and Genomics England have agreed to make available the clinical findings arising from the 100,000 Genomes Project to approved users of the tools developed through the collaboration.
The partnership also includes the ability for Genomics England to work with Illumina’s other tools, NextBio® and BaseSpace®, for data access and genomic data management. Illumina will make available to Genomics England researchers and the GENE Consortium part of the 100,000 Genomes dataset as a pilot within NextBio® Clinical, which will enable cohort analysis of complex phenotypic and genotypic information from de-identified genomes.
“Our partnership with Genomics England will help change the way healthcare is practised” said Jay Flatley, Illumina’s Chief Executive Officer. “The development of our suite of technologies and platforms is critical to enabling physicians in the future to make educated diagnoses based on a patient’s genome which will lead to better health outcomes.”
Sir John Chisholm, Executive Chairman of Genomics England said: “This agreement allows Genomics England to access Illumina’s bioinformatics knowledge and experience to support our ambitions of transforming patient care and research. We are both committed to patients benefiting from genomic analysis across the NHS and to supporting clinicians and researchers in finding new genomic insights. Illumina is our key sequencing partner and they are now able to also support us, alongside our other partners, in solving the challenges of delivering clinical reporting and knowledge curation at a national scale”
Sequencing partnership with Illumina
This agreement is an extension to our sequencing partnership with Illumina, which was announced in August 2014. Illumina remain our sequencing partner for the 100,000 Genomes Project.
The new bioinformatics partnership will develop a set of informatics tools, which will support the delivery of genomic clinical and research services at a population scale to the NHS Genomic Medicine Centres and the Genomics England Clinical Interpretation Partners.
The bioinformatics partnership is a non-exclusive partnership between Genomics England and Illumina which will run in parallel with the other clinical interpretation and bioinformatics providers involved in the 100,000 Genomes Project. All of the tools will include open application programming interfaces so that other bioinformatics-solution partners can continue to provide services within the Project.
We will continue to work with a range of partners. We expect the work with a variety of companies will complement each other, helping us to provide the best possible interpretation of genomic data. We will always look to work with companies who can provide the right expertise across a wide range of bioinformatics challenges.
Genomics England has today (09/02/16) announced that it has selected ICON plc, a global provider of drug development solutions and services to the pharmaceutical, biotechnology and medical device industries, as data management partner for the 100,000 Genomes Project.
ICON will use its genomics expertise and powerful data management capabilities to validate clinical data from the 70,000 participating patients and their families. This work will take place within the secure Genomics England data environment.
“We are very proud that our genomics knowledge and our capabilities in securely managing large clinical and real world datasets have been chosen by Genomics England for such an important and transformative project,” commented Professor Brendan Buckley, ICON’s Chief Medical Officer.
“Our partnership with Genomics England demonstrates our commitment to partnering with industry and government organisations in new and innovative ways to improve patient care by accelerating the development of targeted and personalised medicines that tackle complex diseases. Genomics England’s selection of ICON also reaffirms ICON as a trusted partner to government organisations as well as the world’s top pharma, biotech and medical device companies.”
James Peach, Managing Director for the 100,000 Genomes Project Main Programme at Genomics England said:
“We are delighted to be partnering with ICON. Their renowned expertise in data management will be fundamental in driving scientific research and accelerating the return of results for NHS patients”