Year: 2018

The journey to 100,000 genomes

Genomic potential

Pinpointing the beginning of the 100,000 Genomes Project isn’t easy. It could be argued that Crick, Franklin and Watson started it all in 1953; or Frederick Sanger’s pioneering sequencing technologies in the late ‘70s; perhaps the Human Genome Project in 2003; or even the UK10K project in 2008. Our journey, however, began in 2012 with the announcement of the Project and, in 2013, the creation of Genomics England to drive it to completion.

The background to the odyssey was a recognition that advances in genomics, informatics and analytics brought closer the possibility of more precise diagnosis, alongside personlised and targeted treatments. In 2012 science could see the potential to identify the underlying cause of disease, predict how a person might respond to specific interventions and determine who was at risk of developing an illness.

The stumbling block? Nobody had ever tried.

Building a genomic medicine infrastructure

The UK was brave enough to lead the way – announcing the groundbreaking 100,000 Genomes Project, which aimed to sequence 100,000 whole genomes from around 70,000 participants with rare disease, their families and people with some cancers. The decision was backed by robust government support – both political and financial – which included over £300 million of investment.

Building a genomic infrastructure – partnership on an industrial scale

As we celebrate the sequencing of the 100,000th whole genome just five years later, it is important to remember the scale of the achievement. For those of us here at the beginning, the prospect was simultaneously exciting and daunting. We were asked to not only sequence an unprecedented number of whole human genomes, but also to plug this in to the rich health data held by the NHS. With important objectives to create a consent-based and transparent programme that fostered an emerging UK genomics industry – our ultimate aim was to bring real and lasting change to NHS care.

The challenge, described by one colleague as “building the plane whilst flying it”, was to create the infrastructure for genomic medicine from scratch, whilst also delivering on our objectives. A more traditional model would have seen us build the machinery first and then begin sequencing: the 100,000 Genomes Project did both simultaneously. It was a Project that demanded partnership on an industrial scale – and would never have been delivered without the support of thousands of organisations and individuals.

Genomics England began its close relationship with NHS England to recruit the first participants in 2014. In the same year, NHS England created 11 Genomic Medicine Centres (GMCs), eventually growing to 13 in 2015, and today joined by organisations in Northern Ireland, Scotland and Wales.

GMCs work across areas of 3 to 5 million people in over 85 NHS trusts. They have been key components of the project: recruiting and consenting patients; providing DNA samples; developing the mechanisms for validating results; and working to feed back results to participants. We cannot underestimate the commitment, skill and hard work of thousands of NHS staff who have pioneered these GMCs and the cause of genomic medicine in the NHS.

At the start of 2015, another piece of the infrastructure puzzle fell into place with the opening of the NIHR Biosample Centre to store samples from the Project. And just two months later, we established the Genomics England Clinical Interpretation Partnership (GeCIP). GeCiP brings together thousands of researchers and clinicians from across the world – granting them carefully controlled access to our database to power new discoveries in genomic medicine. Today GeCIP research covers 42 areas – known as ‘domains’ – including rare cardiovascular and neurological disorders, and cancers such as breast, lung and ovarian.

Early in the Project, we realised that many of the technologies and services needed to deliver genomic medicine simply didn’t exist – and if we wanted them we would have to build them. One of these technologies was the bioinformatics pipeline, which is critical to ensure processing at the scale in the world’s largest publicly funded health system. It has involved a huge commitment from our bioinformatics team and others – but has resulted in one of the world’s few semi-automatic bioinformatics pipelines.

This ‘if you can’t buy it, build it’ approach has seen a range of innovations. Work with our sequencing partner, Illumina, for example has acted as a significant catalyst in reducing the costs of sequencing: from billions in 2003 to around £600 today and around £100 in the not too distant future. We have also created a bespoke, multi-petabyte storage environment to cope with the grand challenge of managing a large scale whole genome and clinical dataset.

In 2015 we also began to explore how to align our work with the needs of industry – the companies that will eventually turn genomic discovery into routine treatments. This started with the GENE Consortium, which evolved in 2017 into the Genomics England Discovery Forum we see today. The Forum is a platform that allows us to bring together charities, patients, researchers, clinicians and others with industry partners to share perspectives and better understand how to speed discoveries from the laboratory bench to the patient’s bedside. In the past few months, the value of the Forum has been demonstrated with members discovering previously undiagnosed patients in our database – with the hope that this will lead to better diagnosis and the development of more effective treatments.

People powered healthcare

From the outset, the Project recognised that genomic medicine could not succeed without the understanding, trust, acceptance and consent of patients. Genomic medicine is truly “people-powered healthcare”. It heralds a changing relationship between the patient and the NHS, with a new consent model where healthcare and research become indivisible. It is important to understand that new technology and the use of data will only be socially and clinically enabled if it is trusted by the patient.

100,000 Genomes Project timeline

In 2016 Genomics England established the Participant Panel, which acts as an advisory body to our Board. The Panel is at the heart of our decision making processes, with members sitting on the Access Review Committee, the Ethics Advisory Committee and the GeCIP Board. Involving participants at this fundamental level ensures that the Project is always responsible to the people who drive it.

It also underlines the importance of the Project to participants. Participant Panel Deputy Chair, Rebecca Middleton, has said, “The Project brings me something new – hope. Whether in 5 or 15 years, new genomic discoveries may be able to help me.”

Ensuring that we are able to gain the trust of patients demands that we understand their attitudes to genomic medicine – and this inspired the ‘Genomics Conversation’ in 2016. The Conversation is a genuine engagement project – not seeking to influence its audiences, but rather to listen.

And what is it that patients get from the investment of their trust, understanding and consent?

Even at this early stage, genomic medicine is helping to transform cancer services – making real progress in providing DNA of sufficient quality for whole genome sequencing – an issue that has hampered efforts to apply genomics in cancer diagnosis and treatment around the world. NHS England is re-aligning its laboratory services as it moves from formalin-fixed paraffin embedded (FFPE) to Fresh Frozen (FF) sample handling.

The first participants received their diagnoses in February 2015, when we had sequenced around 2,000 whole genomes, with the first diagnosis of children made in January 2016.

As we have moved to 100,000 genomes, the number of people has grown. People like Project participant Alexander and his family who in finally receiving a diagnosis for LEOPARD Syndrome can now finally know what is wrong and seek support from others living with the same disease. Fellow participant, Jessica, and her family discovered that her condition is caused by errors in the SLC2A1 gene that cause ‘Glut1 deficiency syndrome’ – which only affects around 500 people worldwide. Jessica’s diagnosis has opened up the potential for highly tailored treatments.

Beyond 100,000 genomes

The 100,000 Genomes Project has been a real innovation – from bioinformatics to computing to storage to research to industry partnership to public engagement. As our learning and dataset grows, so too will our ability to better diagnose and treat an ever expanding number of diseases. Whilst the UK is now an acknowledged leader in population genomics, this is a truly global effort – with the potential to bring patient and economic benefit across the world.

The Secretary of State of Health and Social Care’s announcement on 2 October laid out an exciting roadmap for genomic medicine. His words demonstrate the importance of personalised medicine and its ability to continue to deliver cutting edge care within the NHS: “I’m proud to announce we are expanding our 100,000 Genomes Project so that one million whole genomes will now be sequenced by the NHS and the UK Biobank. I’m incredibly excited about the potential for this type of technology to improve the diagnosis and treatment for patients to help people live longer, healthier lives – a vital part of our long-term plan for the NHS.”

The lasting legacy of the 100,000 Genomes Project is the NHS Genomics Medicine Service that began to roll out at the beginning of October 2018. The Project has proven the concept of genomic medicine at scale and built the infrastructure that underpins the GMS. Genomics and the GMS are transformative, poised to change the way future of healthcare is delivered. As we reach the 100,000 genome milestone, we are at a tipping point in medicine that will usher in an era of highly personalised medicine – which may consign generic drugs and treatments to medical history.

Getting to this point has been a demonstration of the power of partnership. We are only here because of the thousands of patients and their families who have placed their trust in a project at the cutting edge of healthcare. Working with them have been many thousands of NHS staff who worked tirelessly to not only deliver the Project, but in many cases, pioneer totally new systems, processes and procedures to ensure that genomic medicine can become part of routine NHS care. And beyond them there is the vast and rich ecosystem of charities, industry partners, funders, government organisations and a host of others. To everyone – we would like to say “thank you”.

Whatever its history and whenever it began, we can be sure that the genomic medicine journey is just beginning – and its future will be an exciting one.

The UK has sequenced 100,000 whole genomes in the NHS

Pioneering 100,000 Genomes Project reaches its goal and thanks all involved

Health Secretary Matt Hancock has today announced that the 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has reached its goal of sequencing 100,000 whole genomes from NHS patients.

This ground-breaking programme was launched by then-Prime Minister David Cameron in 2012, with the goal of harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer. The task was to make the UK a world leader within five years.

The 100,000 Genomes Project has delivered life-changing results for patients with one in four participants with rare diseases receiving a diagnosis for the first time, and providing potential actionable findings in up to half of cancer patients where there is an opportunity to take part in a clinical trial or to receive a targeted therapy.

To do this Genomics England worked with NHS England to create 13 NHS Genomic Medicine Centres (GMCs) to support the project, a state-of-the-art sequencing centre run by Illumina, Inc. and an automated analytics platform to return whole genome analyses to the NHS.

Genomics England and NHS England are extremely grateful to the 85,000 participants, 1,500 NHS staff, over 3,000 researchers, the National Institute for Health Research and the UK Government whose support and funding have been key to the success of this pioneering NHS transformation programme.

As a result the UK has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.

The project has laid the foundations for a NHS Genomic Medicine Service, which will provide equitable access to genomic testing to patients across the NHS from 2019.

Health Secretary Matt Hancock said:

Sequencing the 100,000th genome is a major milestone in the route to the healthcare of the future. From Crick and Watson onwards, Britain has led the world in this amazing technology. We do so again today as we map a course to sequencing a million genomes. Understanding the human code on such a scale is part of our mission to provide truly personalised care to help patients live longer, healthier and happier lives.

I’m incredibly excited about the potential of this type of technology to unlock the next generation of treatments, diagnose diseases earlier, save lives and enable patients to take greater control of their own health.

Sir John Chisholm, Chair of Genomics England, said:

At launch the 100,000 Genomes Project was a bold ambition to corral the UK’s renowned skills in genomic science and combine them with the strengths of a truly national health service in order to propel the UK into a global leadership position in population genomics. With this announcement, that ambition has been achieved. The results of this will be felt for many generations to come as the benefits of genomic medicine in the UK unfold.

Professor Mark Caulfield, Chief Scientist at Genomics England, said:

The sequencing of 100,000 whole genomes marks an extraordinary UK achievement that is transforming the application of genomics in our NHS. Genomics England will continue to analyse these genomes alongside life course clinical information to reveal answers for as many participants as possible and improve their NHS care. With the generous support of our participants, the NHS, the National Institute for Health Research and the Government we will continue to ensure the UK’s global leadership in genomic healthcare.

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

This achievement has only been possible because of the amazing commitment and contribution of NHS teams across the country and I would like to thank each and every one of them for rising to this challenge and excelling in its delivery.

The results, which will continue to be returned to patients, show how genomic medicine can transform lives, bringing quicker and better diagnoses and increasing the number of patients surviving cancer, and the opportunity now is for the NHS to turn this research into reality by introducing sequencing technology as part of our world-leading NHS Genomic Medicine Service.

 Jillian Hastings Ward, Chair of the National 100,000 Genomes Project Participant Panel, said:

This is a fantastic milestone. Thanks to the dedication and hard work of the whole project team, patients and their families are starting to receive life-changing diagnoses. We look forward to seeing more results in the near future – for the rest of the project participants, and for the wider public who will soon benefit from genomic medicine in the NHS. We will also keep working with Genomics England to make sure they keep patients’ interests at the heart of all they do.

Francis deSouza, President and CEO of Illumina, Inc., said:

We congratulate Genomics England and the NHS for reaching this historic achievement and are honored to be part of it.  The accomplishment of the 100,000th genome is only the beginning in many respects, but a significant step towards realizing the promise of genomic medicine to develop products for earlier detection and treatment of many rare diseases and cancers.

James Fenton, Project Manager at the NIHR National Biosample Centre – the facility that stores and processes samples for the 100,000 Genomes Project – said:

It has been a unique study to have been part of and a fantastic achievement on all fronts, really demonstrating that the UK is leading the way in genomic research towards personalised medicine. This milestone is testament to the hard work and dedication put in by all at National Institute for Health Research National Biosample Centre and our partners in Genomics England, the NHS GMCs and Illumina.

A platform for progress – driving genomic vision, research, innovation and outcomes – a blog from Joanne Hackett

Joanne Hackett, Genomics England Chief Commercial Officer, explores how November’s 4th Discovery Forum is helping to shape a genomics vision, research, innovation and outcomes.

Forum members come together at the MUFG sponsored breakfast session.

Back in the summer I spoke of my pride in the Discovery Forum’s progress just a year after its inception. In this blog, I want to demonstrate what this really means in practice.

The Forum came together on 8 November with a truly heavyweight agenda. As I’ve said before, this isn’t a talking shop, but a powerful platform to deliver on the promise of genomic medicine – both for patients and the economy.

It was an agenda that looked at a developing genomics vision, real-world research opportunity, the potential to foster innovative industry and emerging outcomes.


As we rapidly approach the sequencing of the 100,000th genome and the completion of Genomics England’s genuinely historic ‘first phase’ – NHS England’s Chief Scientific Officer, Professor Dame Sue Hill, and our Chief Scientist, Professor Mark Caulfield, discussed the next ‘new horizon’.

This was heralded by the Secretary of State for Health and Social Care, Matt Hancock, on 2 October. He outlined the roadmap that will take us from 100,000 genomes to a million – and beyond. It’s an exciting vision built on a tremendous achievement: in a little more than 5 years, Genomics England has scaled genomics into a global sector and supported NHS England in delivering its world-leading Genomics Medicine Service (GMS).


Sessions on collaboration saw representatives come together from across the genomics space – including data companies, our own GeCIP research initiative and the charity sector – to see how we can improve the ways we mine data to yield discovery.

David Dexter, Deputy Director of Research at Parkinson’s UK, presented to the Forum on the power of collaborations between academia, industry, patient groups and charities to realise the potential of genomic medicine – and support smarter and more effective clinical trials. A key theme was the need to integrate different datasets – including imaging, clinical and genomics data – to help drive stratification and personalised approaches.

Taking this collaborative theme forward, discussions also covered progress in the Genomics England Clinical Interpretation Partnership (GeCIP) – and the emerging cross-cutting opportunities this offers.

Tying the collaborative theme together, we heard from companies that are focused on how to integrate data sources and derive maximum impact. Artificial intelligence (AI) specialist NVIDIA presented on the opportunities of deep learning and data engineering. IQVIA explored the development of a platform to better-connect clinical and de-identified genomics data. The objective of the platform is to deliver robust evidence that fuels faster and more efficient drug research – which will, in turn, accelerate discoveries and their translation into routine genomic treatments.

Innovation industry

The next link in the genomics chain is the development of innovative start-ups to fully harness the medical value of data.

The Francis Crick Institute’s Veronique Birault spoke to the Forum about its KQ Labs programme – aimed at accelerating high growth start-ups in the data-focused biomedical sector. KQ Labs offers fast-emerging companies real-world support, with financial grants backed by an ecosystem of global experts, covering areas that include entrepreneurship, the health sector, data science and investment.

Carrying this forward, discussion then moved on to how the Forum can support this and other initiatives – as well as start-ups themselves. Members heard from innovative, genomics-focused companies including Lifebit, Pangaea, Sevenbridges, Alexion, Mendelian, Sensyne Health and Repositive.IO.

And of course, funders were here too – with the presence of innovation specialist MUFG, which gave financial focus and insight to discussions.


All of this activity is hugely positive, but leaves out the final link – outcomes. So it was hugely encouraging to see rare disease-focused biopharma Forum members Alexion and BioMarin present on progress they had made using selected and de-identified data from the Genomics England dataset.

Alexion and BioMarin have identified previously undiagnosed patients with life threatening kidney (CLN2) and neurological (nephronophthisis) conditions respectively. Their work is important because, in identifying the exact cause of these conditions, there are opportunities to develop ever more effective and targeted treatments – which may delay their progression or even prevent the disease.

The November Discovery Forum was genuinely meaningful – and is helping to shape activity as we move along the genomic roadmap. Its collaborative and inclusive approach means we are able to explore genomics holistically – making it a real platform for progress. I can’t wait to see where the next Discovery Forum will take us.

Helomics partners with Genomics England’s Discovery Forum to drive precision medicine for ovarian cancer

Helomics, a personalised healthcare company whose mission is to improve the standard of care for cancer through innovative precision oncology products and boutique CRO services, and Genomics England announced today that Helomics has become a full Discovery Forum partner. Helomics will utilize the rich de-identified genomics and clinical data set for the 100,000 Genomes Project to further develop its artificial intelligence-based precision oncology platform for ovarian cancer.

The 100,000 Genomes Project is a groundbreaking initiative, sequencing whole genomes of National Health Service patients with rare diseases and their families, as well as patients with common cancers. The aim is to transform healthcare through new diagnoses and personalized treatments. The Precision Medicine Market is set to exceed USD 96 billion by 2024; according to a research report by Global Market Insights, Inc. Helomics continues to be an innovative precision medicine company that will continue to show growth in this robust market in 2019 and beyond.

“We are excited to partner with Genomics England and gain access to the rich, de-identified, genomic and clinical data of the 100,000 Genomes Project. We intend to apply our state-of-the-art machine learning to this dataset to expand the capabilities of our precision oncology platform, which helps oncologists offer individualized treatment options for ovarian cancer patients. We anticipate this to be the first of several projects, leading ultimately to bringing the benefits of Helomics precision oncology to ovarian cancer patients within the NHS,” commented Gerald Vardzel, President and CEO of Helomics Corp.

Expanding on the scientific goals of the project, Dr. Mark Collins, VP of Innovation and Strategy at Helomics, said:

The promise of precision oncology is therapy tailored to the patient’s own cancer, yet the reality is that while we can identify alterations in the DNA of the patient’s tumor most of these mutations are not actionable with current drugs. The goal of this project is to combine genomic profiling of the patient tumor (from the Genomics England data), with the drug response of the patient’s own tumor, grown in the laboratory (Helomics unique dataset), utilizing the power of machine learning to create a “virtual” model of the tumor. We can then use this model to guide the oncologist in selecting appropriate standard of care drugs to best treat the patient, as well in partnership with pharma companies to develop the next generation of precision therapies.

Commenting on the new Discovery Forum Partner,  Joanne Hackett, Chief Commercial Officer of Genomics England, said:

We’re delighted to work with Helomics and their precision oncology products to maximize the benefits to patients. As part of the Discovery Forum, Helomics will collaborate with other companies at the forefront of genomics and technology, to ensure that we turn research findings into treatments, diagnostics and benefits for patients as soon as possible.

Genomics England welcomes publication of the Code on Genetic Testing and Insurance

The Department of Health and Social Care and the Association of British Insurers (ABI) have announced the publication of the Code on Genetic Testing and Insurance today.

The Code is an agreement between Government and the insurance industry – with a commitment from insurers to not ask customers about predictive genetic test results when applying for insurance.

The Code updates a previous agreement – known as the Concordat and Moratorium on Genetics and Insurance – which was renewed every three years. The Code: will now no longer expire after three years, but will be reviewed; has been written to be more customer-friendly; and commits to a joint Government/ABI annual report to keep consumers updated on any developments.

Genomics England Chief Executive, Professor John Mattick, said:

“Genomics England welcomes today’s publication of the Code on Genetic Testing and Insurance. The success of genomic medicine depends on the understanding, acceptance and trust of the public – and this agreement between Government and the insurance industry provides reassurance that genomic information will be used only for the benefit of patients and their families.”

Genomics England selects Congenica to provide clinical decision support services

Genomics England has chosen Congenica as its Clinical Decision Support Service partner to help deliver the new NHS Genomic Medicine Service, which rolls out this month.

The decision follows a competitive tender process involving the leading providers of genomic diagnostic decision support. Congenica’s SapientiaTM platform was selected using robust criteria that included usability, clinical accuracy, case throughput and commercial value.

SapientiaTM has already been validated within Genomics England’s 100,000 Genomes Project and will help clinicians, scientists and researchers to make informed medical decisions – generating actionable clinical reports.

Professor John Mattick, Chief Executive of Genomics England, said:

By working with Congenica from the start of the 100,000 Genomes Project, we’ve been able to provide high quality variant interpretation of genome sequences to the NHS, helping deliver benefits to patients at scale. Now that we are embarking on the next exciting step in our journey to embed genomic medicine in healthcare, Congenica will continue to play an important role with Genomics England in delivering results to clinicians and diagnoses to patients.

Read more on Congenica’s website.

IQVIA and Genomics England launch the first real-world research platform with integrated clinical and genomic data

IQVIA™ (NYSE:IQV) and Genomics England today announced a collaboration to develop a platform that will connect clinical and de-identified genomics data to accelerate treatment advancements for patients. This alliance will enable faster and more efficient drug research, more robust evidence to support treatment value, and greater access to personalized medicines.

Using IQVIA’s E360™ platform, authorized researchers will have privacy-protected, technology-enabled access to Genomics England’s patient-consented, de-identified data to create custom clinical-genomic datasets and run leading-edge analytics on genomics and observable traits.

Combining IQVIA’s leading real-world technologies and services experts with Genomics England’s datasets, network and infrastructure to generate, organize, and enhance genomic data, can make the United Kingdom one of the most attractive places for life sciences companies to invest. The deeper insights about patient populations and faster ability to understand the value of potential treatments could also make the UK a catalyst for analytic and scientific advances.

“IQVIA brings together deep healthcare and life sciences domain expertise to manage and curate real-world data with advanced analytical technologies. Working together, we can unlock the potential of these datasets to advance research and benefit patients in the UK as well as those throughout the world,” said Joanne Hackett, Genomics England’s, chief commercial officer.

Together, IQVIA and Genomics England will enable academic and commercial customers to conduct a wide range of research including: association studies of genomics and observable traits, comparative efficacy and safety trials, and burden-of-illness and discovery analytics using the de-identified data in a secure environment that protects patients’ privacy. Life sciences companies that use IQVIA’s leading clinical and observational research will be able to provide genomic testing to patients in parallel or as part of their clinical programs. This will help advance precision medicine and patients’ access to novel therapies – with the goal of delivering the right drugs to the right patients at the right time.

“Drawing insights from clinical-genomics datasets is the future of real-world research, and we are delighted to work alongside Genomics England as a pioneer in this evolving field,” said Jon Resnick, president, IQVIA Real-World and Analytics Solutions. “Our collaboration advances the analysis of these complex datasets, which could accelerate the discovery of precision therapies, improve access and health outcomes, and deliver upon our Human Data Science vision.”

Secretary of State for Health and Social Care announces 5 million genomes within five years

Health and Social Care Secretary Matt Hancock

Secretary of State for Health and Social Care, the Rt Hon Matt Hancock MP, today set out an ambitious vision for genomic medicine in the NHS – with plans to sequence 5 million genomes over the next five years.

The announcement, made as part of the Secretary of State’s speech to the Conservative Party Conference in Birmingham, recognises the critical importance of genomic medicine to the future of the NHS. Mr Hancock announced:

  • Expansion of the 100,000 Genomes Project to see 1 million whole genomes sequenced by the NHS and UK Biobank in five years.
  • That from 2019, the NHS will offer whole genome analysis for all seriously ill children with a suspected genetic disorder, including those with cancer. The NHS will also offer the same for all adults suffering from certain rare diseases or hard to treat cancers.
  • Revealed the aspiration to sequence 5 million genomes in the UK, within an unprecedented five-year period.

Health and Social Care Secretary Matt Hancock said:

“I’m proud to announce we are expanding our 100,000 Genomes Project so that one million whole genomes will now be sequenced by the NHS and the UK Biobank. I’m incredibly excited about the potential for this type of technology to improve the diagnosis and treatment for patients to help people live longer, healthier lives – a vital part of our long-term plan for the NHS.”

 Genomics England Chair, Sir John Chisholm, said:

“Today’s announcement by the Health and Social Care Secretary recognises the pioneering work of Genomics England, NHS England and others. In just five years, the 100,000 Genomes Project has amassed the world’s largest database of whole genome sequences with associated clinical data. In doing so, we have created the complex infrastructure and proved the concept of genomic medicine at scale in the NHS.”

 Genomics England CEO, Professor John Mattick, said: 

“Genomics England welcomes today’s announcement, which will accelerate the UK’s global lead in genomic healthcare into patient benefit, through improved diagnosis and prevention of disease. Genomics England is already working with the NHS to introduce genomic analysis into routine care, with rare disease and cancer patients receiving diagnoses that lay the foundation for more effective treatments. In sequencing up to 5 million genomes in the next five years, understanding of the link between genetic information and the risk of disease will grow, bringing new discoveries, new awareness and wider benefits to patients, and deliver the most efficient, effective and equitable healthcare system in the world.”

Genomics England Chief Scientist, Professor Mark Caulfield, said:

“Genomics England welcomes this ambitious new vision for genomics, which assures the UK will continue to be the global leader in the application of genomic medicine. As the UK database expands to 5 million sequences and beyond, new insights will help to save many lives, both in the NHS and around the world.”

Marc Stapley, Executive Vice President Strategy and Corporate Development, Illumina – Genomics England’s sequencing partner – said:

“As the industrial partner of Genomics England for the 100,000 Genomes Project, Illumina supports the scale and vision of the UK government in its endeavours to place genomic medicine as one of the pillars of healthcare.“

What do we know about public attitudes to genomics?

What do we know about public attitudes to genomics?

Ahead of a major public dialogue on genomic medicine, Ipsos MORI, Genomics England and Sciencewise have summarised recent findings on public attitudes to genomics, and identified areas for future research.

With support from Sciencewise, we have asked Ipsos MORI to find out how the public feel that the NHS should best take forward genomic medicine into its national programme of clinical care.  As part of this project, we have reviewed previous public engagement and dialogue activities to help us inform our own work.

Though it is not an exhaustive review, this short report identifies seven areas where more research is needed and the implications for our public dialogue:

  1. Awareness of genomics is low: we need to help participants understand key ideas like: what are genes? What is data science? How does the NHS work at the moment?
  2. Younger people and ethnic minorities sometimes have different views about genomics and we should listen to their voices in particular.
  3. Genomics is associated with both benefits and risks.  There are some uncertainties which make the benefits and risks hard to weigh up, such as the scope of impact of genomics long term; future findings from genomics which are unknown today; how quickly the science will develop; and how genomics will be used outside medicine by governments, insurers and others.
  4. Important areas for public debate include how the findings of genomics should be conveyed to patients and, crucially, their families; and what do people consent to, and the role of advice and counselling in this.
  5. Future research should ask the public their views on insurance uses of genomic information, the role of public and private partnerships, and the role of international data sharing.
  6. Public, patients and clinicians are all concerned about the current and future capabilities of the NHS. The dialogue will need to explore how the NHS can develop the skills and capacity required for a genomic medicine service – and what public expectations are.
  7. While we know a lot already about how to communicate key medical, data and genetic concepts, the dialogue should cover the best ways to explain how genomics will be ‘rolled out’ into the NHS more widely.

The full literature review can be downloaded here.

What do you think we should ask the public about genomics? 

We are currently developing our materials for our dialogue, so, whether you are involved personally in genomics and genomic medicine either as a clinician / healthcare professional or researcher, or as a patient, or have an interest in it, we’d be delighted to hear your thoughts on our report and what we should cover in our dialogue.

More information on our genomics dialogue 

For more information on the dialogue or to tell us what you think about our report, please get in touch with Simon Wilde, Genomics England, / 07793 142 501 or Graham Bukowski, Ipsos MORI Public Dialogue Centre, / 0203 059 4678.

Genomics England-supported study reveals new opportunities for personalised TB treatment

A new study led by the University of Oxford-based CRyPTIC consortium, working with Genomics England, Public Health England and the NIHR, reveals new opportunities for personalised medicine in the treatment of tuberculosis (TB).

The study, ‘Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing’, demonstrates much greater accuracy in predicting the susceptibility of the bacterium to anti-TB drugs than had been expected. This more detailed understanding of TB’s genetic code now allows researchers to predict which commonly used anti-TB drugs are best for treating a patient’s infection and which are not.

Genomics England Chief Scientist, Professor Mark Caulfield, said:

The 100,000 Genomes Project has amassed the largest collection of whole human genomes linked to direct healthcare. Here researchers working with Genomics England and with other agencies have demonstrated that DNA sequencing can be used to guide first-line treatment of tuberculosis. This shows that genomic medicine can enable precision care of millions of people, in the UK and around the world.

Lead investigator, Dr Tim Walker, Academic Clinical Lecturer in Microbiology and Infectious Diseases at the University of Oxford’s Nuffield Department of Medicine, said:

With ever-faster and more portable DNA sequencing technologies being developed, this advance means that we are now much closer to delivering tailored therapy to TB patients around the world whose treatments have so far been largely based on a ‘best guess’. Giving the correct drugs to more patients will improve cure rates and help stop the spread of drug-resistant strains.

The paper was published on 26 September in the New England Journal of Medicine, with its findings announced at the United Nations General Assembly high-level meeting on tuberculosis.

News about the study from GOV.UK can be found here and from the NIHR here.

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