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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Rare Disease Day 2017

Today (February 28th) is Rare Disease Day.

Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. So although each one is rare, as a group they are common. So much so, that 1 person in 17, or 7% of people are affected by a rare disease.

About 80% of rare diseases have a genetic cause. The cause is often a single changed ‘letter’ amongst the 3.2 billion letters of DNA that make up the human genome.

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The 100,000 Genomes Project Update

Scientist working at a sequencing machine

By Sir John Chisholm, Executive Chairman, Genomics England.

As many NHS Genomic Medicine Centres are gearing up to organise local activities to mark Rare Disease Day next week (28th February), the 100,000 Genomes Project is making great progress.  All thirteen NHS Genomic Medicine Centres are recruiting rare disease and cancer patients to the Project, and initiatives in Scotland, Northern Ireland and Wales have agreed to join us in this world leading programme.

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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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A Year of Conversations about Genomics

By Vivienne Parry OBE, Head of Engagement at Genomics England

When we began the 100,000 Genomes Project, our initial engagement work was with potential participants, affected both by rare disease and cancer. We wanted to know what their principal concerns were. They turned out to be both practical – for instance, what the impact of results might be on their families or if they might be disadvantaged financially by taking part – and ethical,

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Findings from the National Consent Evaluation

By Dr Caroline Benjamin, National Service Evaluation Project Lead and Guild Senior Research Fellow, University of Central Lancashire

Earlier this year, I and colleagues from NHS Genomic Medicine Centres were asked to deliver an evaluation with the aim to further improve the quality of the consent process and materials in the 100,000 Genomes Project.

On behalf of the project team leads, Markella Boudioni (Imperial College London), Eliot Marsden and Antje Lindenmeyer (University of Birmingham),

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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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GenomOncology’s Knowledge Management System to analyse cancer samples in the 100,000 Genomes Project

Genomics England is partnering with GenomOncology LLC (GO) to utilise the GO Knowledge Management System (GO KMS) as a tool for clinical reporting enablement.

Genomics England will integrate the GO KMS as a key content driver to augment clinical reporting in the 100,000 Genomes Project’s cancer programme,  coupling Genomics England curated database with the GO KMS’s data for a comprehensive clinical report comprised of the most relevant drugs, prognoses,

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Genomics England Selects Inuvika as a Technology Partner for the 100,000 Genomes Project

Genomics England has selected Inuvika as a technology partner to deliver the secure virtual desktop environment for the 100,000 Genomes Project.

Genomics England selected Inuvika’s Open Virtual Desktop Enterprise (OVD) to deliver secure access to the research environment for the 100,000 Genomes Project.  Consisting of a Windows virtual desktop, datacentre hosted applications and associated de-identified datasets, OVD publishes the users’ environment so it can be securely accessed from a standard HTML5 enabled web browser from any location.

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The 100,000 Genomes Project features in London’s Science Museum

The Science Museum’s Our Lives in Data exhibition highlights the technology revolution that will impact our lives.

More information about our lives is being captured than ever before, and as the amount of data collected grows so does the debate around data ownership.

The Science Museum’s newest exhibition, Our Lives in Data, will uncover some of the diverse ways our data is being collected, analysed and used.

A person’s full DNA sequence – their genome – generates around 200GB of data.

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Reaction to the Caldicott Review

In September 2015, the Secretary of State for Health asked Dame Fiona Caldicott, the National Data Guardian to work with the Care Quality Commission (CQC) and carry out an intensive review into data sharing in health and social care. The review, published this week, recommends:

  • New data security standards.
  • A method for testing compliance against these standards.
  • A new consent or opt-out model for data sharing in relation to patient confidential data.

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10,000 Whole Genome Sequences

diagram of DNA mapping

We have now passed the 10,000 milestone, an important achievement for one of the largest DNA sequencing projects in the world.

With July’s tally of 11,221 whole genomes sequenced, the NHS Genomic Medicine Centres across England are continuing to recruit rare disease and cancer patients to the 100,000 Genomes Project. Biotech company Illumina are undertaking the genome sequencing and Genomics England, together with clinical interpretation partners are interpreting those sequences to return results to patients and clinicians.

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Professor Ewan Birney appointed to the Genomics England Board

Genomics England is today (26/05/16) pleased to announce the appointment of Professor Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI) and a Senior Scientist at the European Molecular Biology Laboratory, to the Genomics England Board.

As a member of the Board, Professor Birney will play an important role in overseeing all of Genomics England’s activities, ratifying major decisions and setting the overall strategy for the organisation.

Genomics England was set up by the UK’s Department of Health to deliver the 100,000 Genomes Project,

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New partnership with British Science Association as part of British Science Week

Future Debates BSA

To mark British Science Week (11-20th March), Genomics England is pleased to announce a partnership with the British Science Association (BSA).

Over the next few months, Genomics England and the BSA will be working together to run a series of Future Debates in the summer, as well as publishing a social intelligence report in the late spring.

Genomics England want to showcase the potential benefits whole genome sequencing can offer patients,

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Socialising the Genome

drawing of a periscope in a sea of DNA

‘How easy is it to strike up a conversation about DNA and genomics? Geno-what?’

This is a challenge faced by scientists and the general public ever since the first human genome was mapped fifteen years ago. A new project, Socialising the Genome, is now underway to find out how to make genomics a more social concept.

The last Wellcome Trust Monitor survey said only 12% of the population would say they had a good understanding of what a genome is.

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Socialising the Genome

By Dr Anna Middleton, Principal Staff Scientist (social science, ethics, genetic counselling), Wellcome Genome Campus, Cambridge.

How easy is it to strike up a conversation about genomics? Geno-what?

Does the average person on the street know enough about the issues to even care? A project called Socialising the Genome has just been launched to explore how to turn genomics from an anti-social concept to a more social one.

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Scottish investment in genomic medicine

The Scottish Government Logo

Scottish Genomes Partnership backed by £6 million.

Minister for Sport, Health Improvement and Mental Health, Jamie Hepburn has announced a £6 million investment in the Scottish Genomes Partnership (SGP), ahead of a parliamentary reception to mark Rare Disease Day.

The SGP is a collaboration of Scottish Universities and the NHS capitalising on £15 million investment in whole genome sequencing technology by the Universities of Edinburgh and Glasgow.

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Rare Disease Day 2016

Rare Disease Day logo

Our clinical lead for rare disease, Dr Richard Scott, gives an update on our work. February 29th 2016 is Rare Disease Day.

Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. This means that although each one is rare, as a group they are common. So much so, that 1 person in 17 is affected with a rare disease. That is 7%.

Until recently,

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