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Genomics England Selects Inuvika as a Technology Partner for the 100,000 Genomes Project

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Genomics England has selected Inuvika as a technology partner to deliver the secure virtual desktop environment for the 100,000 Genomes Project.

Genomics England selected Inuvika’s Open Virtual Desktop Enterprise (OVD) to deliver secure access to the research environment for the 100,000 Genomes Project.  Consisting of a Windows virtual desktop, datacentre hosted applications and associated de-identified datasets, OVD publishes the users’ environment so it can be securely accessed from a standard HTML5 enabled web browser from any location.

“We selected Inuvika’s Open Virtual Desktop for its ability to support the Windows and Linux app requirements of our research environment while being able to ‘airlock’ the project data securely within our datacentres.” said David Brown, Head of Informatics Infrastructure. “With no need to install client software on a user’s local device and no requirement for firewall intervention on remote client sites it makes secure access for researchers, clinicians, academia and data providers very simple.”

“We are pleased to be working with Genomics England and the 100,000 Genomes Project to deliver the access platform for the participating organisations” said Kevin Gallagher, CEO of Inuvika. “OVD met the ease-of-use and data security requirements. Additionally, our open source service based approach enables us to be flexible and deliver on the specific needs of such an innovative and transformational project.”

Visit Inuvika’s site for more information.

The 100,000 Genomes Project features in London’s Science Museum

The Science Museum’s Our Lives in Data exhibition highlights the technology revolution that will impact our lives.

Gallery view of Our Lives in Data - an exhibition exploring how big data is transforming the world around us; uncovering some of the diverse ways our data is being collected, analysed and used.

Gallery view of Our Lives in Data. Photo courtesy of Science Museum London.

 

More information about our lives is being captured than ever before, and as the amount of data collected grows so does the debate around data ownership.

The Science Museum’s newest exhibition, Our Lives in Data, will uncover some of the diverse ways our data is being collected, analysed and used.

A person’s full DNA sequence – their genome – generates around 200GB of data. In the 100,000 Genomes Project, sequencing the genome of a person with cancer or someone with a rare disease will help scientists and doctors understand how disease works.

Genomics has already started to deliver diagnoses to families who have been through years of inconclusive tests and unexplained symptoms. And Jessica’s story, which features in the Our Lives in Data exhibition, is just one example of how we can harness the power of genomic data to make a real difference in patient care.

Illumina’s HiSeq X instrument will also be on display as an example of how sequencing technology is playing a crucial part in delivering the 100,000 Genomes Project and enabling new medical insights.

The Science Museum’s exhibition is now open at: Science Museum, Exhibition Rd, London SW7 2DD. Admission is free.

 

Reaction to the Caldicott Review

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In September 2015, the Secretary of State for Health asked Dame Fiona Caldicott, the National Data Guardian to work with the Care Quality Commission (CQC) and carry out an intensive review into data sharing in health and social care. The review, published this week, recommends:

  • New data security standards.
  • A method for testing compliance against these standards.
  • A new consent or opt-out model for data sharing in relation to patient confidential data.

Genomics England welcomes the publication of the National Data Guardian’s review. The review highlights the enormous value of data sharing – it is essential for high quality health and care services. Sharing personal data also enables medical research. Personal health information allows researchers to understand diseases, and opens up avenues for the development of new treatments.

The review also highlights how people must have trust that their information is being protected and used appropriately and ethically. The report recommends that the new data security standards, together with the new consent model now undergo a full public consultation.

Genomics England uses an explicit consent model for the 100,000 Genomes Project. Participants are made aware of, and agree, that their de-identified data will be used by healthcare researchers, including those in for-profit companies. Our model is covered in the report as one example. Read more about ethics and consent in the Project.

Commenting on Dame Fiona’s review, Sir John Chisholm, Executive Chair of Genomics England said:

“We welcome the publication of the National Data Guardian’s (NDG) review and Dame Fiona Caldicott’s recommendations.  The digital revolution is underway in healthcare and the potential benefits of sharing our health data are enormous.  Research using new technologies can greatly improve our understanding of health and disease, unlocking new treatments that could benefit each and every one of us in the future.

“However, we must be able to have absolute confidence in the way our data is looked after by the bodies responsible for it.  Measures to increase understanding of how data is used along with the choice to opt out of data sharing, should an individual wish to do so, will help to ensure people are able to have an informed view and a say in how their data is used in future.”

Read the report here.

10,000 Whole Genome Sequences

We have now passed the 10,000 milestone, an important achievement for one of the largest DNA sequencing projects in the world.

With this month’s tally of 11,221 whole genomes sequenced, the NHS Genomic Medicine Centres across England are continuing to recruit rare disease and cancer patients to the 100,000 Genomes Project. Biotech company Illumina are undertaking the genome sequencing and Genomics England, together with clinical interpretation partners are interpreting those sequences to return results to patients and clinicians.

In rare disease, whole genome sequencing has already made a real difference – and is starting to deliver diagnoses to families who have been through years of inconclusive tests and unexplained symptoms.

Professor Mark Caulfield, Chief Scientist at Genomics England, said

I’d like to thank all staff in NHS Genomic Medicine Centres for their incredible hard work over the past year. 10,000 genome sequences is an important milestone. We know there are challenges ahead, but the work you are doing now will ensure that there is a genomic medicine service in the NHS, for any patient who might need it in the future.

The 100,000 Genomes Project is focused on rare diseases and common cancers. This is because these are genetic disorders, there is unmet need and sequencing will bring benefits for many patients. But the systems we are building will be in place for an NHS genomic medicine service for anyone who might benefit.

As we have reported in previous updates, there are challenges we are currently working on. In cancer we’re working with scientists and clinicians to overcome the complex scientific challenge of getting enough tumour DNA of the right quality to sequence within a standard NHS setting.

Changing pathology services is a key part of this work. This complex challenge has involved hundreds of scientific experiments to find the best way forward. A range of solutions are being trialled at the moment. We expect to see the full results later in the year. In the meantime, while we optimise the pathways, cancer patients are still being recruited to the Project and their genomes analysed.

There is still much work ahead, but the protocols, standards and data infrastructure that are being developed will ensure frontline clinicians can make the most of the knowledge that genomics provides, for patients now and in the future.

Professor Ewan Birney appointed to the Genomics England Board

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Prof Ewan Birney, Director of EMBL-EBI

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.”

Links

European Bioinformatics Institute

Applications for Masters and CPPD funding now open for 2016/17 start

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.

The funding application process is now open for courses starting in the 2016/17 academic year. Details of the modules, eligibility criteria and how to apply are available on the Genomics Education Programme website.

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.’

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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?

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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 www.genetube.org

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.

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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 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.

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