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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.

Qatar Genome Programme and Genomics England formalise collaboration

Apr18

Genomics England has signed a Memorandum of Understanding (MoU) with Qatar Genome Programme. The agreement lays the foundation for Qatar and the UK to develop a collaboration focusing on areas of research in genomics with global impact. The strategic research and development agreement aims to enable novel scientific discovery, and provide medical insights in genomics and precision medicine.

“This partnership aims to foster our shared goals for advancement of precision medicine and to facilitate common genomic research initiatives,” said Dr Richard O’Kennedy,

Industry collaboration already benefiting participants of 100,000 Genomes Project

Apr17

Alexion and BioMarin, both members of Genomics England’s Discovery Forum, have identified previously undiagnosed patients with life-threatening kidney and neurological diseases.

Diagnosing children likely to develop kidney failure

Nephronophthisis (NPHP) is a childhood genetic disorder primarily affecting the kidneys. It is rare (around 1 in 60,000 births) and usually results in kidney failure by the age of 15. It is responsible for 15% of cases of childhood end-stage renal failure – with no preventative treatments currently available.

Genomics England and industry partners complete first phase of liquid biopsy study

Apr16

Genomics England has announced the successful completion of the first phase of its collaboration with Inivata and Thermo Fisher Scientific to investigate the use of liquid biopsies in cancer. This is part of a pilot project aiming to:

assess the suitability of circulating tumour DNA (ctDNA) samples collected by the NHS during the 100,000 Genomes Project
perform objective technology evaluation of the various market offerings in liquid biopsy
generate evidence for the potential consideration of such technology implementation in future routine healthcare for better disease treatment or prevention

Inivata and Thermo Fisher Scientific analysed around 200 blood plasma samples,

Genomics England’s PanelApp software is now open source

Apr9

The software behind Genomics England’s PanelApp, a crowdsourcing platform for sharing and evaluating gene panels, has now been made publicly available for the scientific and clinical community to use. Data from the 100,000 Genomes Project will not be shared or be made open source.

By making the PanelApp software open source, scientists in organisations across the world will be able to upload their own data to create gene panels for research.

PanelApp is a knowledgebase of virtual gene panels for rare diseases and cancer.

What now for 100,000 Genomes Project participants?

Mar4

Participant Panel Chair Jillian Hastings Ward took the opportunity to grill Genomics England’s Chief Scientist and interim Chief Executive Professor Mark Caulfield on film while both were at the Festival of Genomics in January 2019. See some of the key answers below.

What are you going to do with the data sequenced through the 100,000 Genomes Project this year?

Our first priority is to get reports back to those who have not yet received a result.

Jonathan Symonds appointed new Chair of Genomics England

Jan25

Jonathan Symonds CBE is to be appointed the new Chair of Genomics England. Following the success of the 100,000 Genomes Project, Genomics England announces that its Chair, Sir John Chisholm will step down on 29 January 2019. Sir John, who has led the company since its inception in 2013, indicated his decision to leave to the Board once Genomics England realised its 5 year ambition to sequence 100,000 whole genomes in early December.

Jonathan Symonds has more than 30 years’ experience across a spectrum of life science enterprises.

The journey to 100,000 genomes

Dec6

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.