Category: Genomics England

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.

Tribute to Professor Maria Bitner-Glindzicz

We are desperately saddened to learn of the tragic death of Professor Maria Bitner-Glindzicz.  Maria was an outstanding clinical geneticist and champion of people with syndromic hearing loss.

In the 100,000 Genomes Project she was one of the earliest colleagues to be involved with the programme and a wonderful contributor. Her kindness, indefatigable enthusiasm and wisdom was unwavering and she will be greatly missed by her patients, family and all of us.

Our deepest condolences and our hearts go out to her family, her colleagues and patients.

New public dialogue on genomic medicine begins

Genomics England is beginning a dialogue, with support from Sciencewise, to explore public aspirations, concerns and expectations about the development of genomics and genomic medicine in the UK. It will bring up to 100 members of the public together with clinicians, academics and industry to discuss in depth the science and issues of genomic medicine.

What is genomics?

Genomics is behind what’s known as ‘personalised medicine’. Information about an individual’s genetic make-up is used to predict, diagnose and treat disease and ill health in the way that will work best for that individual.

Genomic medicine relies on being able to compare an individual’s DNA against that of tens or hundreds of thousands of other NHS patients with the same condition. The information returned is not only relevant to the individual but to members of their family too. The concept of sharing health data for both individual and collective good is already well understood and has been embraced by many patient groups, and reflects the founding principles of the NHS. However, it is a concept which is still unfamiliar and potentially worrying for the wider public.

Why a public dialogue now?

One of the key recommendations in the Chief Medical Officer’s annual report ‘Generation Genome’ published in 2017 was that “Genomics England and NHS England engage in an extensive public dialogue on the shared social contract between patient, public, clinicians and academics in relation to genomic medicine.”  Genomics England are keen to deliver this, building on their previous engagement work in the ‘Genomics Conversation’.

This dialogue takes place at an important time for the 100,000 Genomes Project, run by Genomics England and NHS England. By the end of 2018, the Project will have sequenced 100,000 genomes from 70,000 NHS patients affected by either rare disease or cancer. Beyond this, the ambition is to embed genomic medicine into the NHS so that it becomes part of routine care and treatment so that everyone can benefit.

Discussing all the ways that the genomics rollout could work will involve in-depth discussions with the public. They will need to consider detailed information, and engage with some complex scientific ideas.  A dialogue process lets us bring the public together with experts to explore the issue in detail, giving us richer findings than shorter focus groups or a survey.

Genomics England’s Head of Engagement Vivienne Parry said

Your genome contains information that may be important for you and your family’s health. But it can also benefit the health of other NHS patients. This is because all genomes contain clues about disease and ill health. The more genomes that can be studied, the more likely the chances of finding those clues. This is one side of the coin – what you can do for others. But the reverse is what others can do for you. Your genome can only be understood by comparing it to the genomes of many other NHS patients – the more there are, the better for you and your family.

It is this and other issues that we really want to explore through this dialogue, which will not only help us to make genomics part of routine NHS care, but keep the UK at the forefront of this remarkable technology, and make sure that we have the right ethical and regulatory environment for it to thrive.”

How will the outputs be used?

The outputs from the project will feed through directly to the work already underway to develop genomic medicine as part of routine NHS care and ensure that policy makers have a more solid foundation of information to inform next steps and to move policy making forward successfully.

It will also provide clarity on the understanding of the concept of a ‘social contract’ between the NHS and those that use it, allowing further development on the principles.

It will also shape the language and messages used.

How will the dialogue be structured?

The project will last for 8 months, and involves a rapid literature review, a stakeholder workshop, reconvened public dialogue workshops with up to 100 members of the public across three locations, followed by a Summit bringing together many of the participants with stakeholders to evaluate different futures for genomics and the NHS.

An oversight group will bring independent scrutiny to the project, and will help Genomics England develop materials for the public to use in their workshops. It is made up of a range of people who will bring different perspectives and expertise.

Chairing the oversight group is Dr Anna Middleton, Head of the Society and Ethics Research Group at the Wellcome Genome Campus in Cambridge. She said

This public dialogue is a really important part of ongoing work to understand how society is responding to, and what expectations the public have, about genomics. We know that general public awareness and understanding about genomic medicine is quite low. But what I want us to gain through this dialogue is a picture of what public expectations might be, and in particular what patients using the NHS think they should offer in return for their healthcare – their side of this ‘social contract’.

Do we expect to be able to take from a free publicly-funded service without allowing our data to be used in research? Is it altruism that is driving this? Should we have a choice in who we allow to use our data? I’m looking forward to finding out.”

The dialogue process is being designed and managed by the Ipsos MORI Social Research Institute, following a mini competition organised via the Sciencewise framework of dialogue delivery contractors.

URSUS Consulting have been appointed to evaluate the project.

Find out more

We will be posting updates on the project on the Genomics England website.

For further information on the public dialogue, please contact

Diversity of debate: the Discovery Forum comes of age – a blog from Joanne Hackett

The Genomics England Commercial Team at the Discovery Forum.

The 3rd Discovery Forum took place on 12 July 2018, bringing together hundreds of people from across the industry sector. Chief Commercial Officer Joanne Hackett writes down her thoughts about the day.

There’s great satisfaction in watching something we have helped to create develop a life and personality all of its own – which is why I took huge satisfaction at the Genomics England Discovery Forum on 12 July.

The Forum grew out of our original GENE Consortium, which provided valuable learning about how to align the interests of industry, research and public. But no matter how useful GENE was, we knew it had served its purpose. It was time to build a successor that broke down traditional silos and created a platform that could truly integrate industry into the process of accelerating discovery, speeding translation from the lab to the clinic, and catalysing the UK genomic sector.

And so, in July 2017, the Discovery Forum was born. Initially with a handful of key industry players, it now boasts 69 members – and it’s still growing. Membership encompasses the A to Z of genomics (well, the A to W − from AstraZeneca through to the Wales Gene Park).

The July 2018 Forum brought together over 100 representatives from every aspect of the genomics sector – from patients to researchers to funders to data analysis companies to software specialists to sequencers to biopharma businesses, and everything in between.

I was particularly proud to see participants of the 100,000 Genomes Project here. These are the people whose generosity – often in difficult circumstances − is making genomic discovery possible, and who have made a huge contribution to the new NHS Genomic Medicine Service which rolls out later this year. Their experience, insight and commitment are a keystone – without them, the Discovery Forum simply couldn’t work.

And everyone comes to engage – italics used for emphasis – because the Discovery Forum isn’t some pointless talking shop. It is a real platform for debate, where attendees openly discuss challenges and solutions. There is no showboating, axe-grinding or agenda setting. It’s where the genomics business gets down to learn about the business of genomics.

Just looking at the breadth of topics we covered in a single day shows us its value: the targeted collection of multiomics (-omics); differing attitudes to hypothesis generation; considering samples as data; the costs of storing massive amounts of data; potential futures for Genomics England; and much more besides.

It is this diversity of debate that makes the Discovery Forum a truly unique resource. Where else… what other forum… brings together so many people from so many different fields on a regular basis? Where relationships, understanding – and ultimately mutual trust in motivations – are built up over time?

Just one year ago I didn’t dare to dream that the Discovery Forum would come so far so fast – and certainly not that it would have come of age on its first birthday. It really is developing a life and personality all of its own − and I’m genuinely intrigued to see where it takes us.

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