Updates

Latest updates and articles about the 100,000 Genomes Project

A New Deal on Data – articulating the contract between science and people
June 20, 2018

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.

Read more >

Read more


The 100,000 Genomes Project by numbers
June 4, 2018

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 = 66,443

Share thisFacebookGoogle+TwitterLinkedinemail Read more >

Read more


Meet Professor John Mattick, CEO at Genomics England
May 29, 2018

Professor John Mattick joined Genomics England as its first Chief Executive Officer on 21 May – coming to us from the prestigious Garvan Institute of Medical Research in Australia. Genomics England speaks to its new CEO to discover more.

What first sparked your interest in science?

I had a wonderful science teacher in secondary school, who led me to love the subject. I was something of an aspiring polymath,

Read more >

Read more


Response to the Prime Minister’s speech on artificial intelligence
May 21, 2018

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.

Read more >

Read more


Over 1,300 researchers granted access to the Genomics England Research Environment
May 9, 2018
  • 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.

Read more >

Read more


Genomics England uses MongoDB to power the data science behind the 100,000 Genomes Project
April 10, 2018
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.

Read more >

Read more


Over 500 researchers granted access to the Genomics England Research Environment
March 16, 2018
• 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,

Read more >

Read more


Human genome pioneer Professor Sir John Sulston dies
March 9, 2018
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,

Read more >

Read more


Celebrating International Women’s Day – a blog from Joanne Hackett
March 8, 2018

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.

Read more >

Read more


Ethics and Social Science  – a community in partnership
March 6, 2018

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.  

Read more >

Read more


Rare Disease Day – embedding patient experience at the heart of rare disease research
February 28, 2018

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.

Read more >

Read more


Rare Disease Day – rare diseases aren’t rare
February 28, 2018

In this blog Dr Richard Scott talks about the long path to diagnosis for many people with rare diseases, and the challenge of raising awareness amongst the public and healthcare professionals.

As the world marks Rare Disease Day on 28 February, Genomics England explores patient and clinical perspectives of rare disease. In an accompanying blog we hear from Rebecca Middleton on how through the 100,000 Genomes Project,

Read more >

Read more


Genomics England appoints two new Non-Executive Directors to its Board – to build strategic, medical and commercial strength
December 19, 2017

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,

Read more >

Read more


Genomics England welcomes the UK Life Sciences Sector Deal
December 7, 2017

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,

Read more >

Read more


Alex’s Story
December 5, 2017

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,

Read more >

Read more


Discovery Forum – partnership on an industrial scale
November 29, 2017

– 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.

Read more >

Read more


Genomics England Responds to Government’s UK Industrial Strategy
November 27, 2017

In response to today’s policy paper, “Industrial Strategy: building a Britain fit for the future” from the UK government, Sir John Chisholm, Executive Chair of Genomics England said:

Sir John Chisholm

Executive Chair

“We welcome the Government’s Industrial Strategy. This will enable us to build on the UK’s global lead in population genomics, to drive NHS transformation,

Read more >

Read more


Genomics England welcomes the appointment of new UK government chief scientific adviser
November 9, 2017

The Cabinet Office has announced this week the appointment of Dr Patrick Vallance as the new government Chief Scientific Adviser. Dr Vallance, who is currently President of Research and Development at GlaxoSmithKline, will take up the post in Spring 2018.

Sir John Chisholm, Executive Chair at Genomics England welcomes the appointment:

I am delighted at Patrick Vallance’s appointment as the new Government Chief Scientific Adviser. Patrick is one of science and technology’s strongest and most passionate advocates – built on deep experience of academia and industry.

Read more >

Read more


PanelApp Version 2 Launched
November 7, 2017
A new and improved release of PanelApp

Visit our dedicated PanelApp page to learn more about our publicly accessible crowdsourcing tool for virtual human disease gene panel creation, storage and querying.

The diagnostic grade ‘Green’ genes and their modes of inheritance in the PanelApp virtual gene panels are used to direct the variant tiering process for the interpretation of genomes in the 100,000 Genomes Project.

What’s new in V2? Read more >

Read more


Tissue Handling in the Royal College of Pathologists Bulletin
November 2, 2017

A recent article in the Royal College of Pathologists‘ bulletin provides a summary of our recent Tissue Handling Workshop.

Download PDF

One of the major challenges of the 100,000 Genomes Project has been collecting tissue samples from participants so that DNA can be extracted and sequenced.

Early experiments showed that how the samples are collected,

Read more >

Read more


British Heart Foundation Chief Executive joins the 100,000 Genomes Project
October 25, 2017

The British Heart Foundation‘s Chief Executive, Simon Gillespie, has recently become a 100,000 Genomes Project participant as a result of his inherited, and unexplained, high cholesterol. He has been speaking about his motivation and expectations this week.

Simon (left) during his initial consultation at Guy’s Hospital, where he was recruited to the Project by Professor Anthony Wierzbicki (not pictured) – image from BHF

Video by the British Heart Foundation

Our Chief Scientist,

Read more >

Read more


Genomics England partners with Inivata and Thermo Fisher Scientific
October 13, 2017
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.

Read more >

Read more


Helping apprentices lead the field in big data
October 11, 2017
Anglia Ruskin and Wellcome Trust Sanger Institute team up to deliver new training

Anglia Ruskin University and the Wellcome Trust Sanger Institute have received funding from the Higher Education Funding Council for England (HEFCE) to launch a new degree apprenticeship in Data Science in September 2018.

Anglia Ruskin has been supported in its application by several global companies involved in genetics and computational biology,

Read more >

Read more


Genomics England Responds to Report from Life Sciences Sector
August 30, 2017

In response to a report by Sir John Bell to the UK government, Sir John Chisholm, Executive Chair of Genomics England said:

Sir John Chisholm

Executive Chair

See the full report here.

“Genomics England welcomes Sir John Bell’s report to government from the life sciences sector – recognising as it does the critical role that genomics will play in the future health, well-being and economic prosperity of this country. Read more >

Read more


GENE Consortium legacy steers industry cooperation at Genomics England
July 28, 2017

On 26 March 2015, Genomics England launched a groundbreaking collaboration with academia, NHS Genomics Medicine Centres (GMCs) and the biomedical and pharmaceutical industries. Known as the Genetics Expert Network for Enterprises (GENE) Consortium, its goals have been ambitious – to align the needs of all sectors to ensure that genomics discoveries are translated into medical treatments, and embedded into mainstream NHS care, as quickly as possible.

GENE has involved 13 private companies working pre-competitively with Genomics England.

Read more >

Read more


Genomics England’s GeCIP virtual Research Environment comes online
July 27, 2017

The 100,000 Genomes Project’s primary goal is to transform the NHS: embedding genomic medicine for earlier diagnosis and more effective treatments. At the same time, the Project is tasked with making the resulting data available to researchers across the world to better interpret genomic data − leading to improved clinical understanding and patient outcomes.

In mid June, we took a big step towards achieving our research goals, with the first groups of scientists accessing data from the Project’s main programme.

Read more >

Read more


The National Initiatives Meeting – genomics around the globe
June 30, 2017

Three years after the launch of the Global Alliance for Genomics and Health (GA4GH) and six months after the first GA4GH-hosted convention of national genomics initiatives, Kathryn North (Australian Genomics) and Genomics England’s Chief Scientist, Professor Mark Caulfield recently convened representatives from 13 National Initiatives in genomic data collection to discuss areas of potential collaboration at the Wellcome Trust in London.

The goal of the meeting was to identify potential areas of collaboration,

Read more >

Read more


Project Milestones for our Genomic Medicine Centres
June 29, 2017

This month we’ve been celebrating four milestones for our brilliant recruitment teams across the country. The 100,000 Genomes Project could not exist without all the hard work of multi-disciplinary teams on the front line in the clinic, who speak to patients about the project and sign them up to be involved as participants.

NHS England established the Genomic Medicine Centres (GMCs) and clinicians based in those areas are working hard to find more people eligible to join the project.

Read more >

Read more


PanelApp reaches 150 diagnostic-grade virtual gene panels
May 5, 2017

The Genomics England PanelApp – our public crowdsourcing tool for evaluating and sharing rare disease gene panels – has now reached 150 virtual gene panels at version 1 or above. This means that the ‘green genes’ on these panels can be used in the analysis of rare disease genomes in the 100,000 Genomes Project, helping to find a diagnosis for patients and their families.

The publicly-available gene panels (or lists) are first created by our team of curators.

Read more >

Read more


Joanne Hackett joins Genomics England as new Commercial Director
April 6, 2017

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.

Read more >

Read more


Whole genome analyses for cancer returned to the NHS within three weeks
March 30, 2017

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.

Read more >

Read more


Rare Disease Day 2017
February 28, 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.

Read more >

Read more


The 100,000 Genomes Project Update
February 20, 2017

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.

Read more >

Read more


A Year of Conversations about Genomics
December 14, 2016

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,

Read more >

Read more


Findings from the National Consent Evaluation
December 2, 2016

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),

Read more >

Read more


The 100,000 Genomes Project features in London’s Science Museum
July 20, 2016
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.

Read more >

Read more


Reaction to the Caldicott Review
July 8, 2016

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.
Read more >

Read more


10,000 Whole Genome Sequences
July 4, 2016

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.

Read more >

Read more


Professor Ewan Birney appointed to the Genomics England Board
May 26, 2016

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,

Read more >

Read more


New partnership with British Science Association as part of British Science Week
March 15, 2016

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,

Read more >

Read more


Socialising the Genome
March 13, 2016

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.

Read more >

Read more


Rare Disease Day 2016
February 29, 2016

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,

Read more >

Read more


Latest from the 100,000 Genomes Project
January 21, 2016

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.

Read more >

Read more


PanelApp has a new look
January 18, 2016

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).

Read more >

Read more


First children receive diagnoses through 100,000 Genomes Project
January 11, 2016

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,

Read more >

Read more


5,000 Whole Genome Sequences
October 12, 2015

We have now sequenced over 5,000 whole genomes from patients and their families.  These are largely from our pilot study for which we owe enormous thanks to NIHR Bioresource for Rare Disease, Cancer Research UK and Biomedical Research Centres across the country.  The 100,000 Genomes Project is picking up pace. All 11 NHS Genomic Medicine Centres are up and running and recruiting patients for rare disease. 

Read more >

Read more


New rare disease gene tool launched – PanelApp
September 9, 2015

Genomics England has developed a unique resource, the ‘PanelApp’. It is a new crowdsourcing tool for the scientific community, allowing knowledge of rare disease genetics to be shared and evaluated. This will create comprehensive evidence-based gene panels for rare diseases. The resource is publically available for anyone who would like to view and download the gene panels. Experts can register as a reviewer to make evaluations of the gene panels.

Read more >

Read more


Genomics at NHS Expo 2015
September 2, 2015

The 100,000 Genomes Project had an exhibition stand at the UK’s major health and care conference, NHS Expo. The stand brought together key partners working on this ground-breaking project: Genomics England, Department of Health, NHS England and Health Education England. We also shared the stand with illumina, Congenica and WuXi NextCODE – innovative companies providing genome sequencing and genome interpretation for the Project.

Read more >

Read more


Genomics across the Atlantic
August 27, 2015

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,

Read more >

Read more


Oxford starts recruiting to 100,000 Genomes Project
August 27, 2015

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 –

Read more >

Read more


Clinical Interpretation Partnership – Applications Open
August 5, 2015

The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from academia and the NHS. Applications are now open to consortia of researchers to form domains.

Our vision is to create a powerful research and training programme alongside the 100,00 Genomes Project

GeCIP Domains are UK-led consortia of researchers, clinicians and those in training. Each domain will work on improving the clinical application and interpretation of the data in the 100,000 Genomes Project.

Read more >

Read more


From One to One Hundred Thousand
June 26, 2015
15th Anniversary of the Human Genome Project

Fifteen years ago today, Bill Clinton and Tony Blair simultaneously announced the first draft of the entire human genome.

It had taken £2 billion and the work of tens of thousands of scientists in the UK, the US and around the world to read the 3 billion letters that make up the code of the human genome. The sequence was finally declared complete in 2003.

Read more >

Read more


Launch of Genomic Medicine Seminar Series
June 15, 2015

Last week (11th June) we launched our seminar series in Genomic Medicine. We have invited speakers from around the world to come and talk about their experiences of genomic medicine. The talks are designed for clinicians and researchers involved in the 100,000 Genomes Project.

The first speaker was Professor Madhuri Hegde from Emory University, USA. Watch her talk below.

The details of the next event will be announced here soon.

Read more >

Read more


Masters in Genomic Medicine
June 1, 2015
The Masters in Genomic Medicine marks the beginning of creating a lasting legacy for patients and the NHS through the 100,000 Genomes Project

Our partners at Health Education England (HEE) have recently confirmed the nine Universities across the UK that will deliver the new Masters in Genomic Medicine.

The Masters, starting in September 2015, is designed for NHS staff, especially those working in Genomic Medicine Centres on the 100,000 Genomes Project.

Read more >

Read more


100,000 Genomes Project Update
May 26, 2015

The main phase of the 100,000 Genomes Project has now begun with 11 Genomic Medicine Centres announced in December 2014 and the first patients recruited in March. Here we report our progress, as well as the sequencing from the pilot project that is well underway. We are working on how best to integrate our service into the NHS as well as how we can best analyse tumour samples donated by cancer patients.

Read more >

Read more


100,000 Genomes Project gains ethical approval to offer NHS patients further information about their genomic results
March 11, 2015

The 100,000 Genomes Project has now received ethical approval for the main phase of the programme. This is awarded by a Health Research Authority Research Ethics Committee (REC) and is the approval of the project’s Protocol which includes the information which will be given to everyone participating in the study. The 100,000 Genomes Project aims to help NHS patients and their families by offering them a genetic diagnosis where they did not have one, plus the prospect of more choices in their care and better,

Read more >

Read more


Genomics England’s Response to President Obama’s Precision Medicine Initiative
January 30, 2015

Professor Mark Caulfield, Chief Scientist for Genomics England:

We welcome the announcement from President Obama.

Scientific and medical progress requires the long term commitment and collaboration of researchers across the globe.

The UK’s National Health Service offers a unique environment in which to transform the application of Genomic Medicine into patient benefit. The 100,000 whole genome sequencing project is focused on patients with rare inherited diseases, cancer and infection and will generate a lasting legacy of NHS Genomic Medicine Centres,

Read more >

Read more


Genomics England one of 2014’s 50 Smartest Companies
February 18, 2014

Genomics England has been recognised as one of 2014’s 50 Smartest Companies in MIT Technology Review’s annual list of the world’s most innovative technology companies.

The companies honoured are nominated by MIT Technology Review’s editors, who look for companies that have demonstrated original and valuable technology over the last year, are bringing that technology to market at significant scale, and are clearly influencing their competitors.

Jason Pontin,

Read more >

Read more


First patients with rare inherited diseases are sequenced by Genomics England
December 20, 2013

Patients with rare inherited diseases have started providing samples of their blood so the whole of their DNA can be sequenced by Genomics England.

Patients with conditions ranging from heart disease to deafness which appear to be caused in part by an inherited gene have been included.

Genomics England plans to take 2,000 samples, from more than 600 patients and their mother and father, or other immediate family member, for whole genome sequencing.

Read more >

Read more