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UK leading on patient-centric precision medicine research

May27

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,

New partnership to sequence human genomes in the fight against coronavirus

May13

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

Find out how to register interest to take part in the GenOMICC study. Read more >

Baroness Blackwood appointed Chair of Genomics England

May1

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,

Professor Sir Mark Caulfield at QMUL’s Precision Medicine Leadership Event

Apr22

On 5 March 2020, Professor Sir Mark Caulfield, Chief Scientist at Genomics England, delivered the keynote talk at St Bartholomew’s Great Hall for the Precision Medicine Leadership event co-hosted by Queen Mary University London (QMUL).

The event set out to explore how collaboration can enable and advance precision medicine, showcasing new developments in the field from academia and industry. The event fostered networking opportunities between delegates who attended from more than 30 companies spanning pharma,

Genomics England’s response to COVID-19

Mar18

At Genomics England, we continue to carefully monitor the coronavirus (COVID-19) situation as it rapidly evolves. Our immediate priorities are to protect and support the health and well-being of our staff, and the professional and social communities with whom we work, whilst continuing to work with our partners at NHS England, as well as those in government, industry, medicine and academia, to accelerate genomic research and healthcare.

In response to government advice, we are working proactively to reduce the spread of the virus.

Rare Disease Day 2020 – diagnosis is just the start of another journey for patients

Feb29

Today is Rare Disease Day 2020. The 100,000 Genomes Project is coming towards an end as we have finished sequencing everyone’s genomic samples, and are working hard to get the last few reports back to the NHS. To mark and raise awareness for the occasion, we asked Dr Christine Patch, Clinical Lead for Genetic Counselling at Genomics England, to give us her perspective.

Projects such as the 100,000 Genomes Project and others are directly facilitating new genetic diagnoses for patients with rare disease.

Participants in 100,000 Genomes Project instrumental in ground-breaking advance in understanding of bowel cancer growth

Feb27

Genomic data provided by participants in the 100,000 Genomes Project has helped Cancer Research UK researchers identify how a common type of gut bacteria could contribute to bowel cancer.

The research, undertaken by a team of international researchers led by Professor Hans Clevers in the Netherlands, shows that a toxin called colibactin released by a strain of E. coli, causes unique patterns of DNA damage to the cells lining the gut.

Genomics England and Illumina partner to deliver whole genome sequencing for England’s NHS Genomic Medicine Service

Jan13

Genomics England and Illumina today announced a new agreement to deliver up to 300,000 whole genome equivalents over the next five years, with an option to increase to 500,000. Samples will be provided through the NHS Genomic Medicine Service and the network of seven genomic laboratory hubs across England, which were established in 2018. This supports NHS England’s ambition to lead the world in introducing whole genome sequencing into routine healthcare.

New Year Honours for Genomics England Board members, Jonathan Symonds CBE and Professor Dame Sally Davies DBE

Dec30

Genomics England’s former Chairman, Jon Symonds CBE, has been Knighted for services to UK Life Sciences and Finance. Jon brought tremendous leadership, insight and direction to Genomics England during his tenure as Chairman, and his firm belief in the potential for genomic science to transform the way in which healthcare is delivered has been critical in driving our vision. We are very fortunate to have Jon’s continuing insights and direction as he continues to serve on the Board,

Australian Genomics launches local instance of PanelApp

Dec16

The sharing of information about gene-disease associations between Australian laboratories will be made far easier from today as Australian Genomics launches a local instance of PanelApp.

PanelApp was designed by Genomics England for the 100,000 Genomes Project, and now the platform is being used to reach a consensus in gene panel content for genetic tests in the NHS Genomic Medicine Service. The Genomics England team have made the platform,

Dido Harding to become new interim Chair of Board

Oct30

Baroness Diana ‘Dido’ Harding is to become interim Chair of the Genomics England Board, starting from December 2019, as Jonathan Symonds CBE steps down at the end of November. Our CEO, Chris Wigley, says a few words below.

Jon Symonds will be stepping down as Chair of Genomics England, with effect from the end of November. Jon’s new role as Chairman of GSK means he is not able to continue as our Chair,

National Conversation on Rare Diseases survey

Oct15

In July, the Minister for rare disease at the Department for Health and Social Care, Baroness Blackwood, announced a ‘national conversation’ on rare disease. This conversation aims to gather a range of views from the rare disease community to identify common themes which will then feed into an overarching framework to follow the UK Strategy on Rare Diseases, which runs until the end of 2020.

To start the conversation, the Department of Health and Social Care have developed surveys to collect views from the patient community,

Genomics England is key partner in two HDRUK Digital Innovation Hubs

Sep12

Today, Health Data Research UK (HDRUK) announced that seven data hubs are to be set up across the UK to speed up research for new medicines and treatments. This initiative will support quicker diagnoses, with the potential to save lives. The hubs will focus on curated, disease-focused datasets, clinical trials, and real world evidence. Genomics England is a key partner in two of these hubs: DATA-CAN and Discover-NOW.

DATA-CAN: Using cutting-edge research and innovation to benefit UK patients

DATA-CAN – the Health Data Research UK Hub for Cancer – aims to transform how cancer data from across the UK can be used to improve patient care.

How can we make cancer treatment less toxic?

Aug8

The answer is in your genetic code

Initial findings from a pilot study using 100,000 Genomes Project data may help doctors to decide which dose of medications are the most appropriate for different cancer patients to take.

Medicines can affect people in different ways – a drug might work really well in some people, but not work or even cause serious side effects (‘adverse reactions’) in others. Genetic differences between people are behind some of these different reactions to drugs.

Over 100,000 whole genome sequences now available for approved researchers

Jul31

Data Release 7 has now gone live in Genomic England’s Research Environment. While every data release is significant in its own right, v.7 is symbolic. It means we have now passed the milestone of 100,000 whole genomes available to researchers. Of course it’s not just about genomes. The growing wealth of linked clinical and secondary health data associated with the genomic data in each release is what makes the Genomics England dataset one of the most exciting tools in the world for discovery and translational research.

Chris Wigley appointed CEO of Genomics England

Jul26

Genomics England has today announced the appointment of Chris Wigley as Chief Executive Officer, with effect from 1 October.

Chris joins Genomics England from QuantumBlack, a world leader in machine learning and artificial intelligence. Machine learning is critical in the analysis of the vast amounts of data involved in genomics, so Chris’ expertise in this area will be invaluable in driving Genomics England’s pioneering work with the NHS to realise the true potential of genomic medicine.

Q&A with Professor Sir Mark Caulfield

Jun14

As you will have seen last weekend, we were delighted that our interim Chief Executive and Chief Scientist, Professor Mark Caulfield, was awarded a knighthood in the Queen’s Birthday Honours. We caught up with Sir Mark to hear his thoughts on receiving such an honour.

Congratulations Sir Mark! You must be very pleased to receive this honour – what does it mean to you?

This was not something I expected to happen ever,

Leading genomics expert awarded knighthood in the Queen’s birthday honours

Jun7

Professor Mark Caulfield, the interim Chief Executive at Genomics England and Professor of Clinical Pharmacology at Queen Mary University of London, has been awarded a knighthood in the Queen’s Birthday Honours List.

Since 2013 Professor Caulfield has been instrumental in delivering the world-leading 100,000 Genomes Project, which hit its target of sequencing 100,000 whole genomes in 2018 and has already delivered life-changing results for patients.

This NHS transformation programme used whole genome sequencing to bring new diagnoses to people with rare diseases and to help choose cancer therapies.

Matching mitochondria – Important new research uses 100,000 Genomes Project data

May24

Scientists publish new research using data from the 100,000 Genomes Project rare disease programme

Scientists from the University of Cambridge have announced a discovery about the inheritance of mitochondrial DNA using data from the 100,000 Genomes Project. The scientists are part of the neurology domain of the Genomics England Clinical Interpretation Partnership (GeCIP). These important scientific findings represent the beginning of a stream of valuable discoveries that will come from the 100,000 Genomes Project data.

A major new dialogue has found the public are enthusiastic and optimistic about the potential for genomic medicine but have clear red lines on use of data

Apr25

The more widespread use of genomic medicine – applying knowledge about a person’s genetic information to guide and improve their healthcare – will change the relationship between the UK public and the NHS, according to a new report launched today. ‘A public dialogue on genomic medicine: time for a new social contract?’ explored public aspirations, concerns, and expectations about the development of genomic medicine in the UK. It was commissioned by Genomics England and co-funded by UK Research and Innovation’s Sciencewise programme in support of public dialogue on scientific and technological issues.