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New partnership with British Science Association as part of British Science Week

Science-Association-logoTo mark British Science Week (11-20th March), Genomics England is pleased to announce a partnership with the British Science Association (BSA).

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.”

Meanwhile, NHS Genomic Medicine Centres involved in the 100,000 Genomes Project will be offering people a unique opportunity to go behind the scenes of hospital labs and scientific facilities as part of Healthcare Science Week, which is part of British Science Week.

Look out for details of our first events coming soon on the Genomics England and British Science Association websites.

Socialising the Genome

‘How easy is it to strike up a conversation about DNA and genomics? Geno-what?’

Drawing of a robot

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.

drawing of a crossword puzzle

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 of a periscope in a sea of DNA

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.’

drawing of DNA and a magnifying glass

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 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?

drawing of the gnome

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.”

View the animations and take part in the research.

Read Dr Anna Middleton’s blog.

Socalising the Genome

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?

drawing of a robot

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

drawing of a gnome

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?

drawing of a periscope in a sea of DNA

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.

drawing of robots

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 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.

Scottish investment in genomic medicine

The Scottish Government Logo

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.”

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.

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.

Rare Disease Day 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.

Rare Disease Day logoThe 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.

This post also appears on the Huffington Post Tech blog.

Genomics England Enters Bioinformatics Partnership with Illumina

illuminaGenomics 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.

We are both committed to patients benefiting from genomic analysis across the NHS and to supporting clinicians and researchers in finding new genomic insights

“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”

More information

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.

Other bioinformatics partners

Last year we announced our contracts with Congenica, Omicia, Nanthealth and WuxiNextcode. These companies are also providing clinical interpretation services in the 100,000 Genomes 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 selects ICON as Data Management Partner

icon-logoGenomics 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”

Latest from the 100,000 Genomes Project

Across England patients with cancer are now being recruited to the main phase of the 100,000 Genomes Project, giving the fight against cancer a significant boost. Minister for Life Sciences George Freeman MP announced the news at the Festival of Genomics in London yesterday.

Speaking at the conference, the Minister also announced that the government has committed a further £250 million in funding for genomics as part of the recent Spending Review.

George Freeman MP and Dame Sally Davies

George Freeman MP and Dame Sally Davies.

Cancer patients are joining those with rare diseases as part of the 100,000 Genomes Project. Patients are being recruited through 13 NHS Genomic Medicine Centres across the country.

With a patient’s consent, DNA from their tumour is sequenced, and then compared to DNA from healthy cells from a sample of blood.

Scientists will be able to build a more detailed understanding of how DNA affects a patients susceptibility to disease and response to treatment. In some cases, DNA sequencing will mean a specific recommend treatment can be recommended, based on a patient’s individual genome changes.  This has the potential to benefit patients here in the UK, and could also help in the global fight against cancer.

Secretary of State for Health, Jeremy Hunt said:

“Genomics is the future of medicine and the sequencing of cancer DNA confirms why the UK is a global leader in this field. Over half a billion pounds has been invested in genomics to ensure that NHS patients continue to benefit from the prospect of better diagnosis and better treatments.”

Life Sciences Minister George Freeman MP added:

“The recruitment of cancer patients is a significant milestone in the revolutionary 100,000 Genomes Project. It will help to unlock our understanding of the causes of this devastating condition, make the UK a leader in genetic research, and provide better diagnosis and more targeted treatment for thousands of NHS patients across the UK.”

Lloyd Sisters, Mary,Sandra and Kerry

Lloyd Sisters Sandra, Kerry and Mary.

Three people joining the project are the Lloyd sisters: Mary, Sandra and Kerry. All three were diagnosed with breast cancer within 15 months of each other.

The sisters heard about the 100,000 Genomes Project, and signed up through University Hospitals of Leicester NHS Trust in order to understand more about their conditions, and how their families might be affected.

Mary said “I was diagnosed in 2013 just after I retired. Then it was Kerry in January 2014, who still has children at school. It was horrendous. Then Sandra in February 2015. You just wonder when it’s all going to end. We’re all keen to take part. Finding out more opens it all up for the rest of our family.”

Sir Harpal Kumar, Cancer Research UK’s chief executive, said:

“It’s very exciting news that the first cancer patients are being recruited to the main phase of this ground-breaking project. The comprehensive mapping of patients’ DNA will reveal a vast amount of information that could help doctors and scientists develop new ways to prevent, diagnose and treat cancer more effectively in the future.

“Precision medicine is already having an impact on some cancer patients, who are benefitting from newly-developed, targeted treatments such as the skin cancer drug Vemurafenib. We hope that, one day, treatments based on the specific characteristics of the tumour, including the genetic make-up, can be offered to all patients – and this latest phase of the 100,000 Genomes Project is another important step towards this.”

The project has already delivered its first successes, with children at Great Ormond Street Hospital recently receiving life-changing diagnoses.

Sir John Chisholm, Executive Chairman of Genomics England said:

“The data from all  our participants provides a powerful resource for researchers  and  we hope that new understanding, diagnoses and treatments for rare diseases and cancer can be developed as a result of this.  Working together with the NIHR BioResource, Cambridge University, Cancer Research UK and Illumina has enabled Genomics England to reach this important milestone.”

Prof Sue Hill, Chief Scientific Officer for NHS England said:

“By giving clinicians and researchers access to their DNA and health history, genomic ‘patient’ pioneers such as the Lloyd sisters are helping to put the 100,000 Genomes Project and the NHS at the forefront of science. Our clinical staff are driving through new tumour tissue handling, preparation and assessment methodology across the NHS Genomic Medicine Centres which will lead to higher quality samples and faster, more accurate results for patients. The global community is now looking to Genomics England and its NHS partners to set global standards for tumour DNA extraction, whole genome sequencing and its analysis.”

Chief Medical Officer, Dame Sally Davies, also announced that her annual report for 2016 will focus on genomics, addressing some of the emerging issues in the field.

Here’s a video featuring Sir John Chisholm, George Freeman MP, Dame Professor Sally Davies, and Illumina’s Peter Fromen speaking on how the 100,000 Genomes Project is leading the way in transforming healthcare for NHS patients.

PanelApp has a new look

GenomicsEngland 150915.00_05_02_15.Still052The Genomics England PanelApp, a crowdsourcing tool that allows knowledge of rare disease genes to be shared and evaluated, has a new look for the New Year.
Over the past few months, we have worked to incorporate feedback from users and added new features which will make it easier to review gene panels.

Below are some screenshots of the new look. You can explore the platform here (opens in new window).

New features

You can now filter through the list gene panels – of which there are currently 170 across a whole spectrum of rare diseases – to help narrow your search and find ones you want to review or download. This list panels can also be sorted based on how many genes have been evaluated or how many expert reviewers have assessed each panel.

The sort and filter feature also works when you’re viewing a particular panel. Let’s say you want to look at the ‘Early onset and familial Parkinson’s Disease’ (opens in new window) panel, you can choose to show only genes that are on the ‘green’ list (meaning that they are very likely be the cause of the disease). Alternatively the genes can be sorted and filtered by name, number of reviews or the mode of inheritance.

Why is PanelApp important?

The aim of PanelApp is to utilise expertise and knowledge to establish a final diagnostic grade gene panel for each disorder. These will be used in the classification of genetic variants to aid clinical interpretation of rare disease genomes, and help to deliver life-changing results for patients and their families taking part in the 100,000 Genomes Project.

Thank you to all those who have already reviewed panels, your contribution is greatly appreciated and within each gene panel you can see acknowledgement of every expert reviewer. We have started to evaluate the reviews we have so far, and will revise and update the gene panels (Version 1.0) for use in the analysis of genomes in the 100,000 Genomes Project.

There are still many gene panels that require expert review. We are asking all rare disease experts to contribute. You can register to become a PanelApp reviewer here.

panelapp before and after

First children receive diagnoses through 100,000 Genomes Project

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames NHS Genomic Medicine Centre.

Both Georgia Walburn-Green and Jessica Wright had rare, undiagnosed, genetic conditions when they joined the Project. Whole genome sequencing pinpointed the underlying genetic changes responsible for their conditions.

As well as removing a large amount of uncertainty for the families, the results stand to have a major impact on many areas of their lives including future treatment options, social support and family planning. They also have the potential to help many more children with undiagnosed conditions who may be tested for these genetic mutations early on and be offered a diagnosis to help manage their condition most effectively.

Georgia and her family.

Georgia’s story

Between ages of one and two, Georgia’s family discovered all the problems she had one by one. As well as both physical and mental developmental delay, they found that she had a rare eye condition that affects her sight, her kidneys don’t function properly, and she has verbal dyspraxia meaning they don’t know if she will ever talk. Standard genetic testing brought up nothing and so doctors explained that she had an undiagnosed genetic condition.

Amanda, Georgia’s Mum, said: “I had no idea that it was possible to have an undiagnosed condition. I thought you get told you might have a genetic condition, you have the genetic test, and then you get the answer. Being told that Georgia had an undiagnosed condition was one of the hardest points of our lives as we felt like we were alone.”

When the family heard about 100,000 Genomes Project they were keen to sign up.

This is a pioneering project that will transform the application of genomics in our healthcare system.

Amanda said “As soon as we were on the project I felt a huge sense of relief. I felt that they now had all the information needed to look at the full picture and it just required someone to decipher and understand it. There’s nothing else we could do or give and there would be no other secrets to unlock with Georgia. They had her genome and so the answers had to be there somewhere.”

It was almost exactly a year until they received a phone call from Great Ormond Street Hospital geneticist Maria Bitner-Glindzicz explaining that they had found a mutation in a single gene in Georgia which was likely to be the cause of her problems. This, for the first time, gives Georgia a molecular diagnosis for her condition.

Professor Mark Caulfield, Chief Scientist at Genomics England said “It is our aim to bring new diagnoses and, if possible, identify potential therapies for participants in the 100,000 Genomes Project. This is a pioneering project that will transform the application of genomics in our healthcare system.”

Secretary of State for Health, Jeremy Hunt said: “Ground-breaking outcomes like this one for Georgia and her family are incredibly promising, and are the reason that this Government has invested over £200 million in bringing such revolutionary science to the NHS.

“By sequencing DNA on an unprecedented scale, we are also cementing the UK’s position as a world-leader in 21st century medicine”.

Georgia’s family are now hoping that over time they will find out more about her condition and her prognosis.  They also hope to connect with the other families that have children with the same gene change.

Amanda said: “It’s going to take time to find out more about this gene and what it controls and affects but I’m sure they’ll find more out. Medicine is not yet at the stage to offer genetic therapy but we have come so far in Georgia’s lifetime already that who knows what the future holds.”

Jessica and her family

Jessica’s story

Jessica Wright was also recently diagnosed through the 100,000 Genomes Project.

Mum, Kate Palmer talked about what the diagnosis means for them: “Now that we have this diagnosis there are things that we can do differently almost straight away. Her condition is one that has a high chance of improvement on a special diet, which means that her medication dose is likely to decrease and her epilepsy may be more easily controlled. Hopefully she might have better balance so she can be more stable and walk more. She’s now four years old still looks like a wobbly toddler trying to move around!

A diagnosis also means that we can link up with other families who are in the same boat and can offer support. The condition is still quite rare but there are definitely other children out there who have it. I’m really looking forward to saying ‘We are one of you, we have this problem too!’

More than anything the outcome of the project has taken the uncertainty out of life for us and the worry of not knowing what was wrong. It has allowed us to feel like we can take control of things and make positive changes for Jessica.

It may also open doors to other research projects that we can to go on. These could be more specific to her condition and we are hopeful that they could one day find a cure.”

GOSH Consultant in Clinical Genetics, Professor Maria Bitner-Glindzicz says: “With undiagnosed genetic conditions it really is a case of the more families we test, the more we can diagnose. In order to confidently say that a particular gene is likely to be the cause of a condition and not just natural variation that we see in everyone’s genes, we have to match up gene mutations and symptoms across several children to find common features. The more children we therefore have to cross check against, the more likely it is that we can find these common features and give a diagnosis.”

Watch Jessica’s story in this video:

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