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

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,

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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 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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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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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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Genomics England appoints global genomics champion as first CEO

Genomics England announces the appointment of its first Chief Executive Officer (CEO) today. Global genomics pioneer Professor John Mattick will join Genomics England in June. He will lead the organisation as work done in the 100,000 Genomes Project provides the foundation for the systems NHS England is mobilising in its ground breaking Genomic Medicine Service.

Sir John Chisholm, Executive Chairman since the foundation of Genomics England in 2013, will hand over executive responsibility to Professor Mattick.

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UK leads the world as 100,000 Genomes Project hits the 50,000 genomes landmark to transform NHS patient care

The Department of Health and Social Care, NHS England and Genomics England today announced reaching the 50,000 whole human genome sequences landmark within the 100,000 Genomes Project.

It is a milestone that sets the UK on track to fully realise the potential of genomic medicine, deliver better care for patients and establish the UK as the global ‘go to’ destination in the fast emerging genomics sector.

Genomics England was established in 2013 as a wholly owned company of the Department of Health and Social Care by the Secretary of State,

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Wales joins the 100,000 Genomes Project

Wales has joined the 100,000 Genomes Project, the Welsh Government announced today.  The project, now a UK-wide initiative, seeks to transform patient care, encourage genomic discovery and drive a thriving genomics sector.

In an agreement between Cardiff and Vale University Health Board (CVUHB), Cardiff University and Genomics England (the company leading the Project across the UK), 420 whole genome sequences (WGS) have been commissioned for patients with rare diseases and their families, in Wales.

The 100,000 Genomes Project aims to sequence 100,000 genomes from 70,000 people with rare diseases and their families,

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Genomics England adopts Edico Genome’s DRAGEN Bio-IT Platform

Genomics England adopts Edico Genome’s DRAGEN Bio-IT Platform to increase accuracy, consistency of next-generation sequencing analysis

Today (8 January 2018) at the annual J.P. Morgan Healthcare Conference, Edico Genome and Genomics England announced a new partnership to strengthen the accuracy and consistency of next-generation sequencing data analysis in Genomics England’s Rare Disease Pilot.

The partnership will further support Genomics England’s 2018 initiative to making next-generation sequencing (NGS) the standard of care across the UK’s National Health Service in 2018.

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Genomics England partners with Inivata and Thermo Fisher Scientific

Genomics England partners with Inivata and Thermo Fisher Scientific to unlock the genomic secrets of blood plasma – and improve our understanding of cancer

Genomics England has announced today a new industry collaboration with leading life sciences companies Inivata and Thermo Fisher Scientific to improve understanding of cancer. The pilot project aims to assess the quality of blood plasma samples and explore the potential of liquid biopsy testing to improve disease management and patient outcomes.

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Whole Genome Sequencing to diagnose TB

Scientist working at a DNA sequencing machine

Public Health England has announced that Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis (TB).

This is the first time that WGS has been used as a diagnostic solution for managing a disease on this scale anywhere in the world.  The technique, developed in conjunction with the University of Oxford, allows faster and more accurate diagnoses, meaning patients can be treated with precisely the right medication more quickly.

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Scotland study to probe causes of rare diseases

DNA

People in Scotland with rare genetic diseases are set to benefit from a DNA study that seeks to improve their diagnoses and treatments.

The study – launched by the Scottish Genomes Partnership in collaboration with Genomics England – will analyse the entire genetic make-up of 330 people with rare diseases and members of their family.

Using advanced computing to link genetic data with patients’ health information, scientists hope to pinpoint differences in their DNA code that may be responsible for their condition.

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Intellia Therapeutics joins the GENE Consortium

Today (12 January 2017), Intellia Therapeutics has joined the Genomics England Genomics Expert Network for Enterprises (GENE) Consortium, as the first dedicated genome editing company to participate in the 100,000 Genomes Project.

The GENE Consortium, established in March 2015, is the 100,000 Genomes Project’s industry partnership.  Intellia will join 12 other companies who are working together in a pre-competitive trial. The collaboration aims to identify the most effective and secure way of bringing industry expertise into the 100,000 Genomes Project to realise future potential benefits for patients affected by rare diseases or cancers. 

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UK Prime Minister Opens New Sequencing Centre

Mike Stratton, Sir John Chisholm, Theresa May, David Bentley, Heidi Allen MP

Today (21st November) Genomics England, Illumina, and the Wellcome Trust Sanger Institute hosted the UK Prime Minister, Theresa May, at the opening of the Bridget Ogilvie Building on the Wellcome Genome Campus in Cambridge. This is where DNA sequencing for the 100,000 Genomes Project takes place.

It is also the site where the UK’s contribution to the original Human Genome Project took place over 15 years ago. The campus is now home to some of the world’s foremost institutes and organisations in genomics.

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Genomics plc Appointed as Analysis Partner for the GENE Consortium

Genomics plc, a leading analysis company developing an integrated platform to uncover the relationships between genetic variation and human disease, today announced that it has been appointed as Analysis Partner for the Genomics England Genomics Expert Network for Enterprises (GENE) Consortium. Genomics plc will be analysing genomes at an unprecedented scale and, together with the company’s existing knowledge base, be providing insights into human biology that will help to inform pharmaceutical R&D investment decisions.

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