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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What do we know about public attitudes to genomics?

What do we know about public attitudes to genomics?

Ahead of a major public dialogue on genomic medicine, Ipsos MORI, Genomics England and Sciencewise have summarised recent findings on public attitudes to genomics, and identified areas for future research.

With support from Sciencewise, we have asked Ipsos MORI to find out how the public feel that the NHS should best take forward genomic medicine into its national programme of clinical care.  

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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 = 87,231

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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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Tribute to Professor Maria Bitner-Glindzicz

Professor Mark Caulfield, Chief Scientist at Genomics England said:

We are desperately saddened to learn of the tragic death of Professor Maria Bitner-Glindzicz.  Maria was an outstanding clinical geneticist and champion of people with syndromic hearing loss.

In the 100,000 Genomes Project she was one of the earliest colleagues to be involved with the programme and a wonderful contributor. Her kindness, indefatigable enthusiasm and wisdom was unwavering and she will be greatly missed by her patients,

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New public dialogue on genomic medicine begins

Genomics England is beginning a dialogue, with support from Sciencewise, to explore public aspirations, concerns and expectations about the development of genomics and genomic medicine in the UK. It will bring up to 100 members of the public together with clinicians, academics and industry to discuss in depth the science and issues of genomic medicine.

What is genomics?

Genomics is behind what’s known as ‘personalised medicine’.

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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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Consent and participation in the 100,000 Genomes Project – public attitudes

A new public dialogue on attitudes to sharing personal data as part of research has used the 100,000 Genomes Project as an example of best practice in obtaining consent.

The way that Genomics England obtained consent from participants in the 100,000 Genomes Project was praised by the public focus groups who took part in the project, run by the Health Research Authority (HRA) and Human Tissue Authority (HTA), who are now considering how best to use Genomics England’s approach as an example of good practice for future work and guidance for researchers on gaining consent.

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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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A New Deal on Data – articulating the contract between science and people

By Anna Middleton (Head of Society and Ethics Research at Wellcome Genome Campus), Vivienne Parry (Head of Engagement at Genomics England), Julian Borra (Citizen, Founder of Thin Air Factory)

Are you with us?

For most of us it is hard to unpick the various declarations, assurances and guarantees made regarding the sanctity of our data. Even the General Data Protection Regulation still feels quite far removed from the everyday lives of ordinary people and is seemingly absent of any consultation with them.

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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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Response to the Prime Minister’s speech on artificial intelligence

Today, Prime Minister Theresa May will announce the Government’s plan to use artificial intelligence to diagnose cancer at earlier stages, which will reduce deaths by around 10% by 2033.

In response, Sir John Chisholm, Chair of Genomics England, said:

The Prime Minister’s commitment to the Life Sciences Strategy and the opportunities it opens for the UK is very welcome. Combining the unique strengths we have in the NHS linked to our world-class science gives us the chance to be global leaders in 4th generation technologies linked to wellness and health.

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Over 1,300 researchers granted access to the Genomics England Research Environment

  • The number of users with access to the Genomics England Research Environment has more than doubled since our last update in March 2018 – now over 1,300 researchers are working with data from the 100,000 Genomes Project.

The Genomics England Clinical Interpretation Partnership (GeCIP) is an international consortium of researchers, clinicians and trainees, established to improve understanding and practice of clinical genomics, and uncover new medical insights for patients.

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Response to Science and Technology Committee Report on Genomics and Genome Editing in the NHS

The House of Commons Science and Technology Committee has today (20 April) published its report on Genomics and Genome Editing in the NHS.

In response, Sir John Chisholm said:

Sir John Chisholm

Executive Chair

“I welcome the House of Commons Science and Technology Committee Report on Genomics and Genome Editing, published today. The report is a thorough and thoughtful exploration of the tremendous opportunities that genomics offers to the UK – its people, Read more >

Genomics England uses MongoDB to power the data science behind the 100,000 Genomes Project

Genomics England is using data platform MongoDB to power the data science that makes the 100,000 Genomes Project possible. Our partnership with MongoDB allows the processing time for complex queries to be reduced from hours to milliseconds, which means scientists can discover new insights more quickly.

Genomics England, working with the NHS, is sequencing 100,000 genomes from patients with rare diseases and their families, as well as patients with common cancer.

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Over 500 researchers granted access to the Genomics England Research Environment

• Over 500 researchers have been granted access to the Genomics England Research Environment, enabling them to carry out pioneering research on the 100,000 Genomes Project dataset.
• Genomics England has also adopted the bioinformatics platform Galaxy, providing initial access to students on the MSc in Genomic Medicine course with thousands of genomic analysis tools.

The Genomics England Clinical Interpretation Partnership (GeCIP) is an international consortium of researchers, clinicians and trainees, established to improve understanding and practice of clinical genomics,

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Human genome pioneer Professor Sir John Sulston dies

The Wellcome Sanger Institute has announced today the death of their founding director and pioneering scientist, Professor Sir John Sulston.

Sir John founded and directed the Sanger Institute, then Sanger Centre, from 1992 to 2000, leading a historic period of genetic discovery. He led the UK’s contribution to the draft Human Genome, a monumental effort that laid the foundations for the research that is transforming healthcare and understanding of disease today.

Sir John Chisholm,

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Celebrating International Women’s Day – a blog from Joanne Hackett

As part of the BioIndustry Association’s celebration of International Women’s Day today, Genomics England’s chief commercial officer Joanne Hackett will be joining Dr Jelena Aleksic, founder and chief executive of GeneAdviser, at a networking evening to explore the topic of genomics and data protection.

BIA’s Women in Biotech Networking Evenings were created for attendees to connect with women from across the sector, share success stories and hear from inspirational speakers.

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