Q&A with Professor Sir Mark Caulfield

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,

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

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.

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

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.

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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

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.

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Qatar Genome Programme and Genomics England formalise collaboration

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,

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Genomics England’s PanelApp software is now open source

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.

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What now for 100,000 Genomes Project participants?

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.

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Jonathan Symonds appointed new Chair of Genomics England

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.

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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.

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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.

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The 100,000 Genomes Project by numbers

This update gives you the number of whole genomes sequenced so far against our target of 100,000. This figure is updated every month.

Thank you to everyone who has taken part and helped us to achieve this!

For background on our progress, see our previous update.

Genomes Sequenced = 100,000

Genomics England is wholly owned by the Department of Health & Read more >

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.

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.

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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,

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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,

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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.

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

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.

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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.

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

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,

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As the NHS celebrates 70 years Genomics England sequences its 70,000th genome

As the NHS celebrates its 70th birthday, Genomics England announces that it has now passed the 70,000 genomes mark. This milestone comes just five months after the 100,000 Genomes Project reached its halfway point – signalling that it is well on track to reach its goal of 100,000 genomes by the end of this year.

Genomics England has worked with the NHS to create the biggest national genome sequencing project of its kind in the world.

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New genomics education and training resources from the Royal College of General Practitioners

Dr Jude Hayward and Dr Imran Rafi are Co-Clinical Champions for the Royal College of General Practitioners’ Genomics in Primary Care Programme. Here, they highlight resources created by RCGP to help general practitioners understand the impact and applications of genomics in primary care. 

Genomics testing is increasing and growing numbers of patients are likely to present to their GP practice, as the gateway to NHS care, with issues and questions relating to themselves or family members.

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