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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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 = 81,179

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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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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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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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Ethics and Social Science  – a community in partnership

Last month the Ethics and Social Science Genomics England Clinical Interpretation Partnership (GeCIP) held its first national community meeting in London. Alev Sen, an ESRC-funded PhD Fellow at Genomics England, describes some of the day’s highlights.

It’s not that often that over 100 leading ethics and social science researchers in the field of genomics come together with patients and families, clinicians, scientists, and policy-makers from across the UK to look at how we can contribute to world-class research and inform the future of genomics.  

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Rare Disease Day – embedding patient experience at the heart of rare disease research

As the world marks Rare Disease Day on 28 February, Genomics England explores patient and clinical perspectives of rare disease.

In this blog we hear from Rebecca Middleton − taking part in the 100,000 Genomes project’s rare disease programme and Vice Chair of the Project’s Participant Panel.

In an accompanying blog we hear from Dr Richard Scott, Genomics England’s Clinical Lead for Rare Disease.

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Genomics England appoints two new Non-Executive Directors to its Board – to build strategic, medical and commercial strength

Genomics England has announced the appointment of two new Non-Executive members to its Board. Sir Ron Kerr and Keith Stewart bring a wealth of senior scientific, commercial and managerial experience to Genomics England − providing effective support for the strategic and operational leadership of the organisation.

Genomics England’s new Non-Executive Directors bring highly relevant professional expertise and the ability to engage with stakeholders at every level. They are tasked to ensure the on-going pace,

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Genomics England welcomes the UK Life Sciences Sector Deal

In response to yesterday’s Life Sciences Sector Deal announcement from the UK government, Sir John Chisholm, Executive Chair of Genomics England said:

Sir John Chisholm

Executive Chair

“I warmly welcome the UK Life Sciences Sector Deal announced on 6 December – and congratulate Sir John Bell and all of those who have created a transformative roadmap for Life Sciences in the UK.

From the outset,

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Alex’s Story

In this video, meet participant Alexander Masterson and his mum, Kirsty, who speak about what getting a diagnosis from the 100,000 Genomes Project means to them.

Find out about the rare disease that he was diagnosed with as a child, Noonan syndrome, and how his recent genetic diagnosis of LEOPARD syndrome is changing their view.

Hear from Alex about his experiences of living with his rare disease,

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Discovery Forum – partnership on an industrial scale

– by Joanne Hackett, Genomics England Chief Commercial Officer

Genomics – on an industrial scale

The time for talking about the potential of genomic medicine is past. As England’s Chief Medical Officer (CMO), Dame Sally Davies, writes in her report, Generation Genome: “Genomics is not tomorrow. It’s here today.”

Genomics will transform patient outcomes and healthcare systems – and NHS England is already moving to make a mainstream genomics medicine service a reality.

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