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 reach this stage!
For background on our progress, see our previous update.Genomes Sequenced = 32,642
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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 >
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 >
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 >
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 >
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 >
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.Read more >
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 >
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 >
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 >
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 >
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 >
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 >
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:
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 >
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 >
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 >
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 >
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 >
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 >
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.Read more >
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 >
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 >
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 >
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 >
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 >
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 >
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 >
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 >
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 >