Professor Joanne Hackett joins Genomics England as new Commercial Director

Photo of Joanne Hackett

Professor Joanne Hackett joins Genomics England on 18 April 2017 as its new Commercial Director and lead member of the company’s new Commercial Business Committee.

As Commercial Director, Joanne will develop the next phase of Genomics England’s industry engagement strategy by developing, managing and accelerating relationships with commercial organisations − creating opportunities for collaboration both nationally and globally.

Joanne brings a formidable track record of clinical, academic and entrepreneurial success.

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Whole genome analyses for cancer returned to the NHS within three weeks

One key aim of the 100,000 Genomes Project is to improve cancer care for NHS patients. Whole genome sequencing in cancer can enable clinicians to choose better treatments and improve outcomes for patients through personalised medicine.

While the Project continues to recruit patients and develop the infrastructure for interpreting genomic data at scale, we are delighted that the first four cancer whole genome analyses from our ‘fast track’ project have been returned to the NHS in 18 working days of patient samples being dispatched to our whole genome sequencing pipeline.

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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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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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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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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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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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Latest from the 100,000 Genomes Project

George Freeman MP

Across England patients with cancer are now being recruited to the main phase of the 100,000 Genomes Project, giving the fight against cancer a significant boost. Minister for Life Sciences George Freeman MP announced the news at the Festival of Genomics in London yesterday.

Speaking at the conference, the Minister also announced that the government has committed a further £250 million in funding for genomics as part of the recent Spending Review.

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PanelApp has a new look

The Genomics England PanelApp, a crowdsourcing tool that allows knowledge of rare disease genes to be shared and evaluated, has a new look for the New Year.

Over the past few months, we have worked to incorporate feedback from users and added new features which will make it easier to review gene panels.

Below are some screenshots of the new look. You can explore the platform here (opens in new window).

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First children receive diagnoses through 100,000 Genomes Project

Georgia Walburn-Green with her parents.

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames NHS Genomic Medicine Centre.

Both Georgia Walburn-Green and Jessica Wright had rare, undiagnosed, genetic conditions when they joined the Project. Whole genome sequencing pinpointed the underlying genetic changes responsible for their conditions.

As well as removing a large amount of uncertainty for the families,

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Call for members of new Participant Panel

lines of text

Joining the Participant Panel

We are looking for people who have taken part in the 100,000 Genomes Project to join our national Participant Panel. The 100,000 Genomes Project is a landmark project in healthcare which has the potential to bring personalised medicine to the NHS. This new panel will help shape it’s future.

The role of the Participant Panel is to ensure the interests of participants are always at the centre of the 100,000 Genomes Project.

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Genomics across the Atlantic

Professor Mark Caulfield and Dr. Alan Winter

Genome British Columbia and Genomics England today signed a Memorandum of Understanding (MOU) to pursue a bold initiative to improve diagnostic capability and outcomes for patients with cancer, rare diseases and infectious diseases. The two groups are working together with the ultimate goal of sharing and co-developing information and tools, and a mechanism for the international exchange of knowledge and materials in the field of genomics.

The first phase of the MOU involves building expert working groups to expand and assess some of the best ideas,

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Oxford starts recruiting to 100,000 Genomes Project

DNA profile

The Oxford NHS Genomic Medicine Centre (GMC) is one of 11 Genomic Medicine Centres delivering the 100,000 Genomes Project across England. Oxford GMC is the first to begin recruiting patients to the main cancer phase of the project.

More than 1,200 patients and their families who are looked after by the Oxford University Hospitals NHS Trust (OUHT) will take part. Eligible patients with rare diseases and cancers are being invited to provide health data and blood and tissue samples for whole genome sequencing –

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