Month: May 2020

UK leading on patient-centric precision medicine research

A novel system which will allow rare disease patients and their caregivers to add additional information about themselves to research databases is being developed by Sano Genetics in collaboration with Zetta Genomics and Genomics England. The system will add an important layer of patient derived information to the groundbreaking precision medicine research being carried out through Genomics England. The information provided by individuals may be reported by participants directly, for example daily symptom tracking, or by a device such as a watch that measures activity or sleep.

Jillian Hastings Ward, Chair of the Genomics England Participant Panel, said:

Many patients and their families are keen to work with researchers to better understand their health conditions. Tools which enable this to happen effectively could lead to exciting new discoveries.

The project won £450,000 grant funding from Innovate UK as part of its competition, Digital Health Technology Catalyst Round 4: Collaborative R&D.

This system is a first and further cements Genomic England’s commitment to participant involvement in research.

This new initiative will lay the groundwork for better capturing additional data directly from patients and their families in the ‘real world’ to learn about disease progression and treatment effectiveness from their perspective. Collecting information about health and wellbeing directly from patients can help fill in the blanks between infrequent doctor visits. For example, wearable devices or digital journals that allow parents of children affected by neuromuscular conditions such as Duchenne Muscular Dystrophy to record daily activity would provide much more detailed pictures of disease progression, or improvement after treatment. Development of a patient platform will also enable patients to be notified about new research opportunities that may be relevant for them, including clinical trials that test new medicines.

Sano Genetics, an SME based in Cambridge, UK has developed a platform for patient engagement in precision medicine research, and is leading the consortium effort to further develop the technology for use in population-scale genomics programmes. Zetta Genomics, an SME also based in Cambridge, brings expertise in big data analysis in genomics using OpenCB, a leading open source software for large-scale genomic data management. Genomics England is a company wholly owned by the UK Department of Health and Social Care that has been at the forefront of patient partnership in precision medicine through the delivery of the 100,000 Genomes Project and the Genomic Medicine Service with the NHS. This collaboration represents another significant step in developing technologies and processes that put the patient voice at the heart of research. 

The collaboration involves two main workstreams. The first workstream involves surveys and workshops with patients to influence the features of the platform, and an ethical, regulatory, and legal working group to ensure that any proposed use-cases meet the highest standards in the United Kingdom. Two workshops were held in April with participation from more than twenty participants from the 100,000 Genomes Project and other genetics research initiatives across the UK. A survey of research participants and further workshops will be held in the coming months while the platform is under development. The second workstream is focused around technical developments of the Sano Genetics platform and OpenCB technology, including stress-testing the systems for scalability using simulated data and building capabilities for federated data analysis, whereby data can be only be analysed within ‘safe havens’ such as the Genomics England research environment.

The Innovate UK funding will allow the consortium to develop the technology, and go to market in 2021 with a patient engagement platform for population-scale genomics programmes. This collaboration has the potential to accelerate precision medicine by enabling access to real-world data and patient-reported outcomes on a population scale by making patients genuine partners in the research process.

Patrick Short, CEO of Sano Genetics, said of the partnership:

We are very excited to develop the Sano platform in collaboration with Zetta Genomics and Genomics England, and hope this collaboration can serve as a model to other research programmes and biobanks. This collaboration is initially focused on rare disease, where there is a huge need to develop new treatments and very dedicated patient groups and advocates. We believe our platform can also help accelerate precision medicine research in common genetic conditions and cancer, and are actively setting up collaborations in these areas as well.

Augusto Rendon, Chief Bioinformatician at Genomics England, said:

Collaborative efforts such as this are helping us further explore how additional data sources can be used to impact positively on healthcare, while ensuring that the highest levels of data security and integrity are met along the way.

Will Spooner of Zetta Genomics said:

Modern digital technologies enable new paradigms for participant engagement in research. The studies enabled by this and similar initiatives are set to drive significant advances in biomedical science. Advances that ultimately translate into the new precision medicines and diagnostics that will improve patient outcomes for generations to come. We are delighted to be part of this ground-breaking project that puts the participant at its heart.

New partnership to sequence human genomes in the fight against coronavirus

  • Genetic susceptibility to coronavirus to be tested in ground-breaking nationwide study
  • Genomes of thousands of patients with coronavirus will be sequenced to understand how a person’s genetic makeup could influence how they react to the virus
  • Genomics England partners with University of Edinburgh to lead research drive to support the search for new treatments

Thousands of patients severely ill with coronavirus will have their genetic code studied to help scientists understand whether a person’s genetics may influence their susceptibility to the virus.

A major new human whole genome sequencing study will take place across the NHS, involving up to 20,000 people currently or previously in an intensive care unit with coronavirus, as well as 15,000 individuals who have mild or moderate symptoms.

Genomics England, is partnering with the GenOMICC consortium, Illumina and the NHS to launch the research drive, which will reach patients in 170 intensive care units throughout the UK.

The project is backed by £28 million from Genomics England, UK Research and Innovation, the Department of Health and Social Care and the National Institute for Health Research. Illumina will sequence all 35,000 genomes and share some of the cost via an in-kind contribution.

The study, facilitated by the University of Edinburgh and multiple NHS hospitals, will explore the varied effects coronavirus has on patients, supporting the search for treatments by identifying those most at risk and helping to fast-track new therapies into clinical trials.

Health and Social Care Secretary Matt Hancock said: “As each day passes we are learning more about this virus, and understanding how genetic makeup may influence how people react to it is a critical piece of the jigsaw.

“This is a ground-breaking and far-reaching study which will harness the UK’s world-leading genomics science to improve treatments and ultimately save lives across the world.”

Since genetic discoveries need very large numbers of patients, the GenOMICC study ultimately aims to recruit every single COVID-19 patient who is admitted to intensive care in the UK.

Patients will only be enrolled in the study if they, or their next of kin, have given their consent.

As part of this study so far, DNA samples have been collected from almost 2,000 patients.

Chris Wigley, CEO of Genomics England said: “At Genomics England, we are extremely proud to be working with the NHS and other partners in the fight against COVID-19, to understand why people respond differently to this infection.

“Our goal with this study is to help the national response to this terrible pandemic, using the experience we have gained through the 100,000 Genomes Project, and leveraging our ongoing work in genomic research and healthcare. As with all groundbreaking science, we don’t know what the answer is yet – but we are convening the finest minds in academia and industry to try to find out.”

Genomics England will read the data from entire genomes – or genetic blueprints – of thousands of people who have been most severely affected by coronavirus and compare them to those who experience only mild symptoms.

Dr Kenneth Baillie, Chief Investigator at the University of Edinburgh, leading this study, said: “Our genes play a role in determining who becomes desperately sick with infections like COVID-19. Understanding these genes will help us to choose treatments for clinical trials. The GenOMICC study was launched before this outbreak and it is recruiting in more than 160 ICUs across the country with tremendous support from the critical care community. We are excited to work with Genomics England to tackle this new and complex disease.”

By combining the genome with rich clinical characteristics and comparing those who become severely ill with those that experience a much milder illness, the consortium hopes to gain new insights into how the virus affects us.

This ground-breaking research may help explain why some patients with coronavirus experience a mild infection, others require intensive care and why some patients die from the disease.

By discovering why some people are predisposed to developing life-threatening symptoms, the consortium will be able to identify treatments which have the best chance of success in clinical trials, and potentially identify people at extreme risk if they develop COVID-19.

This work – sequencing human genomes – complements the UK COVID-19 Viral Sequencing Programme (COG-UK) announced in March and its work already underway to sequence the genome of the virus itself, led by Public Health England and the Sanger Institute.

Professor Sir Mark Caulfield, Chief Scientist at Genomics England, said: “For the first time in a generation we face a global viral pandemic that is life threatening for some people, yet others have a mild infection. By reading the whole genome we may be able to identify variation that affects response to COVID-19 and discover new therapies that could reduce harm, save lives and even prevent future outbreaks.”

Whole genome sequencing will be carried out by Illumina at its laboratories in Cambridge, UK, where they successfully delivered the 100,000 Genomes Project together with Genomics England and the NHS.

Paula Dowdy, General Manager and SVP Illumina, EMEA, said: “We have a long-standing partnership with Genomics England and are proud to support this new genomics initiative from our Cambridge-based lab. The results will establish a unique platform for researchers to understand the human response to coronavirus infection, leading towards new treatments and ways to control infection spread.”

Today’s announcement demonstrates how different parts of the UK’s world-leading genomics community are working together to get a full picture of both the spread and impact of the virus.

Data from the person’s own genome can be linked to the virus genome data provided via the previously announced viral sequencing programme by the COVID-19 Genomics UK Consortium (COG-UK), a partnership of NHS organisations, UK public health agencies, the Sanger Institute and UK academic centres.

Professor Sharon Peacock CBE, Director of COG-UK, said: “This study is a fantastic example of how different parts of the UK genomics community are working together to get a full genomic picture of the spread and impact of the virus. In COG-UK we have already sequenced over 10,000 virus genomes from patients with COVID-19. Linking this data to the patient’s own genome data in the Genomics England-GenOMICC study may provide unique insights into how the patient and virus genomes act together to influence the patient’s response to the infection and will help inform and improve our response to future outbreaks.”

Professor Sir Mark Walport, Chief Executive of UK Research and Innovation (UKRI), who have given £3 million in funding to the project, said: “The UK is a global leader in the genetic analysis of disease. By applying this expertise to examine the role of genetic factors in COVID-19, including in young severely impacted patients without known underlying health issues, this study could identify important risk factors and disease mechanisms, which may lead to new diagnostic and therapeutic approaches.”

Part of the overall genomic study will also focus on children and young adults severely affected by COVID-19.

The NIHR BioResource is partnering with GenOMICC and Genomics England to provide infrastructure, expertise and £1 million funding to investigate this by collecting samples from these young patients and their parents.

Professor John Bradley CBE, Chief Investigator of the NIHR BioResource, said: “The NIHR BioResource is delighted to build on our established partnership with Genomics England and work with GenOMICC to understand in particular why some children and young adults are so severely affected by COVID19.”

These initiatives will enable novel insights into the virus, as well as possible human factors that influence the effects of the disease, and whether a combination of both shape outcomes for NHS patients.

Professor Dame Sue Hill, Chief Scientific Officer and SRO for Genomics at NHS England and NHS Improvement said: “This study has the potential to dramatically improve our understanding of COVID-19 – it could help us to identify whether underlying genomic differences play a part in how people react to the virus and why some people have few or no symptoms whilst others can get very ill.  I am very grateful to all the staff, patients and families who are working on and participating in this study, at what is a very challenging time.”

The data that is collected during the study will also inform global strategic planning for possible later waves of the pandemic, and for new pandemics in the future.  For now, the prospect of this study’s findings should not detract from the fact that we must all continue to follow the government’s guidance, which at the moment involves staying home and staying safe.

  • Since genetic discoveries need very large numbers of patients, patients who have already had COVID-19 and have now recovered are invited to volunteer to take part in the study. To register your interest, please visit

Baroness Blackwood appointed Chair of Genomics England

Baroness Nicola Blackwood has been appointed Chair of Genomics England, succeeding Baroness Dido Harding, who has served as Interim Chair since November 2019.

Genomics England was established in 2013 to deliver the 100,000 Genomes Project in partnership with the NHS and helped to cement the UK’s world-leading position in genomic science.  Following the successful sequencing of 100,000 whole genomes in December 2018, Baroness Blackwood will support Genomics England through its next phase of development, which will see it move from a project-based organisation to a sustainable government-owned company, with a mission to facilitate and expediate genomic research, and accelerate the transition to genomic healthcare.

Baroness Blackwood was a Parliamentary Under Secretary of State at the Department of Health and Social Care from January 2019 to February 2020 and previously served as Parliamentary Under Secretary of State at the Department of Health from July 2016 until June 2017. She was elected as the Conservative MP for Oxford West and Abingdon in May 2010.

Health and Social Care Secretary Matt Hancock said:

It’s a great pleasure to welcome Baroness Blackwood as the new Chair of Genomics England. Nicola brings huge experience to the role, including from her time as Life Sciences Minister, and I’m certain she will drive forward the crucial work already underway to better our understanding of the human code and the health benefits that can bring. I thank Baroness Dido Harding for the significant contribution she made to Genomics England, helping to spearhead the organisation as a world leader in genomic science.

 Baroness Blackwood of North Oxford, Chair of Genomics England, said:

I’m thrilled to accept the honour of becoming Genomics England’s Chair. This is a tremendously important time to be able to contribute to Life Sciences in this country. I truly believe that genomics will continue to transform healthcare, allowing us to build a sustainable healthcare system, delivering personalised and predictive care to everybody. I’m absolutely committed to supporting Genomics England as best I can, through the fight against COVID-19 and beyond.

 Chris Wigley, Chief Executive Officer of Genomics England, said:

I’m delighted to welcome Nicola to Genomics England.  Her wealth of experience in the public and private sectors – particularly her past role of Life Sciences Minister – will be invaluable to the Board, our many partners, participants, and all of our staff, as we strive to facilitate genomic research and to make genomic healthcare universally accessible. I am confident that, with Nicola’s support and guidance, Genomics England will play an ever-more significant role in the UK’s genomic healthcare ambition.

On behalf of the Board, I would like to thank Dido for her outstanding contribution as Interim Chair of Genomics England. We have been extremely fortunate to have benefitted from her deep knowledge and broad expertise in leading the Genomics England Board.