Genomics England’s former Chairman, Jon Symonds CBE, has been Knighted for services to UK Life Sciences and Finance. Jon brought tremendous leadership, insight and direction to Genomics England during his tenure as Chairman, and his firm belief in the potential for genomic science to transform the way in which healthcare is delivered has been critical in driving our vision. We are very fortunate to have Jon’s continuing insights and direction as he continues to serve on the Board,Read more >
The sharing of information about gene-disease associations between Australian laboratories will be made far easier from today as Australian Genomics launches a local instance of PanelApp.
PanelApp was designed by Genomics England for the 100,000 Genomes Project, and now the platform is being used to reach a consensus in gene panel content for genetic tests in the NHS Genomic Medicine Service. The Genomics England team have made the platform,Read more >
Baroness Diana ‘Dido’ Harding is to become interim Chair of the Genomics England Board, starting from December 2019, as Jonathan Symonds CBE steps down at the end of November. Our CEO, Chris Wigley, says a few words below.
Jon Symonds will be stepping down as Chair of Genomics England, with effect from the end of November. Jon’s new role as Chairman of GSK means he is not able to continue as our Chair,Read more >
In July, the Minister for rare disease at the Department for Health and Social Care, Baroness Blackwood, announced a ‘national conversation’ on rare disease. This conversation aims to gather a range of views from the rare disease community to identify common themes which will then feed into an overarching framework to follow the UK Strategy on Rare Diseases, which runs until the end of 2020.
To start the conversation, the Department of Health and Social Care have developed surveys to collect views from the patient community,Read more >
Today, Health Data Research UK (HDRUK) announced that seven data hubs are to be set up across the UK to speed up research for new medicines and treatments. This initiative will support quicker diagnoses, with the potential to save lives. The hubs will focus on curated, disease-focused datasets, clinical trials, and real world evidence. Genomics England is a key partner in two of these hubs: DATA-CAN and Discover-NOW.
DATA-CAN: Using cutting-edge research and innovation to benefit UK patients
DATA-CAN – the Health Data Research UK Hub for Cancer – aims to transform how cancer data from across the UK can be used to improve patient care.Read more >
Initial findings from a pilot study using 100,000 Genomes Project data may help doctors to decide which dose of medications are the most appropriate for different cancer patients to take.
Medicines can affect people in different ways – a drug might work really well in some people, but not work or even cause serious side effects (‘adverse reactions’) in others. Genetic differences between people are behind some of these different reactions to drugs.Read more >
Data Release 7 has now gone live in Genomic England’s Research Environment. While every data release is significant in its own right, v.7 is symbolic. It means we have now passed the milestone of 100,000 whole genomes available to researchers. Of course it’s not just about genomes. The growing wealth of linked clinical and secondary health data associated with the genomic data in each release is what makes the Genomics England dataset one of the most exciting tools in the world for discovery and translational research.Read more >
Genomics England has today announced the appointment of Chris Wigley as Chief Executive Officer, with effect from 1 October.
Chris joins Genomics England from QuantumBlack, a world leader in machine learning and artificial intelligence. Machine learning is critical in the analysis of the vast amounts of data involved in genomics, so Chris’ expertise in this area will be invaluable in driving Genomics England’s pioneering work with the NHS to realise the true potential of genomic medicine.Read more >
As you will have seen last weekend, we were delighted that our interim Chief Executive and Chief Scientist, Professor Mark Caulfield, was awarded a knighthood in the Queen’s Birthday Honours. We caught up with Sir Mark to hear his thoughts on receiving such an honour.
Congratulations Sir Mark! You must be very pleased to receive this honour – what does it mean to you?
This was not something I expected to happen ever,Read more >
Professor Mark Caulfield, the interim Chief Executive at Genomics England and Professor of Clinical Pharmacology at Queen Mary University of London, has been awarded a knighthood in the Queen’s Birthday Honours List.
Since 2013 Professor Caulfield has been instrumental in delivering the world-leading 100,000 Genomes Project, which hit its target of sequencing 100,000 whole genomes in 2018 and has already delivered life-changing results for patients.
This NHS transformation programme used whole genome sequencing to bring new diagnoses to people with rare diseases and to help choose cancer therapies.Read more >
Scientists publish new research using data from the 100,000 Genomes Project rare disease programme
Scientists from the University of Cambridge have announced a discovery about the inheritance of mitochondrial DNA using data from the 100,000 Genomes Project. The scientists are part of the neurology domain of the Genomics England Clinical Interpretation Partnership (GeCIP). These important scientific findings represent the beginning of a stream of valuable discoveries that will come from the 100,000 Genomes Project data.Read more >
The more widespread use of genomic medicine – applying knowledge about a person’s genetic information to guide and improve their healthcare – will change the relationship between the UK public and the NHS, according to a new report launched today. ‘A public dialogue on genomic medicine: time for a new social contract?’ explored public aspirations, concerns, and expectations about the development of genomic medicine in the UK. It was commissioned by Genomics England and co-funded by UK Research and Innovation’s Sciencewise programme in support of public dialogue on scientific and technological issues.Read more >
Genomics England has signed a Memorandum of Understanding (MoU) with Qatar Genome Programme. The agreement lays the foundation for Qatar and the UK to develop a collaboration focusing on areas of research in genomics with global impact. The strategic research and development agreement aims to enable novel scientific discovery, and provide medical insights in genomics and precision medicine.
“This partnership aims to foster our shared goals for advancement of precision medicine and to facilitate common genomic research initiatives,” said Dr Richard O’Kennedy,Read more >
Alexion and BioMarin, both members of Genomics England’s Discovery Forum, have identified previously undiagnosed patients with life-threatening kidney and neurological diseases.
Diagnosing children likely to develop kidney failure
Nephronophthisis (NPHP) is a childhood genetic disorder primarily affecting the kidneys. It is rare (around 1 in 60,000 births) and usually results in kidney failure by the age of 15. It is responsible for 15% of cases of childhood end-stage renal failure – with no preventative treatments currently available.Read more >
Genomics England has announced the successful completion of the first phase of its collaboration with Inivata and Thermo Fisher Scientific to investigate the use of liquid biopsies in cancer. This is part of a pilot project aiming to:
The software behind Genomics England’s PanelApp, a crowdsourcing platform for sharing and evaluating gene panels, has now been made publicly available for the scientific and clinical community to use. Data from the 100,000 Genomes Project will not be shared or be made open source.
By making the PanelApp software open source, scientists in organisations across the world will be able to upload their own data to create gene panels for research.
PanelApp is a knowledgebase of virtual gene panels for rare diseases and cancer.Read more >
Participant Panel Chair Jillian Hastings Ward took the opportunity to grill Genomics England’s Chief Scientist and interim Chief Executive Professor Mark Caulfield on film while both were at the Festival of Genomics in January 2019. See some of the key answers below.
What are you going to do with the data sequenced through the 100,000 Genomes Project this year?
Our first priority is to get reports back to those who have not yet received a result.Read more >
Pinpointing the beginning of the 100,000 Genomes Project isn’t easy. It could be argued that Crick, Franklin and Watson started it all in 1953; or Frederick Sanger’s pioneering sequencing technologies in the late ‘70s; perhaps the Human Genome Project in 2003; or even the UK10K project in 2008. Our journey, however, began in 2012 with the announcement of the Project and, in 2013, the creation of Genomics England to drive it to completion.Read more >
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 = 100,000 Genomics England is wholly owned by the Department of Health & Read more >
Joanne Hackett, Genomics England Chief Commercial Officer, explores how November’s 4th Discovery Forum is helping to shape a genomics vision, research, innovation and outcomes.
Back in the summer I spoke of my pride in the Discovery Forum’s progress just a year after its inception. In this blog, I want to demonstrate what this really means in practice.
The Forum came together on 8 November with a truly heavyweight agenda.Read more >
The Department of Health and Social Care and the Association of British Insurers (ABI) have announced the publication of the Code on Genetic Testing and Insurance today.
The Code is an agreement between Government and the insurance industry – with a commitment from insurers to not ask customers about predictive genetic test results when applying for insurance.
The Code updates a previous agreement – known as the Concordat and Moratorium on Genetics and Insurance – which was renewed every three years.Read more >
Secretary of State for Health and Social Care, the Rt Hon Matt Hancock MP, today set out an ambitious vision for genomic medicine in the NHS – with plans to sequence 5 million genomes over the next five years.
The announcement, made as part of the Secretary of State’s speech to the Conservative Party Conference in Birmingham, recognises the critical importance of genomic medicine to the future of the NHS. Mr Hancock announced:
What do we know about public attitudes to genomics?
Ahead of a major public dialogue on genomic medicine, Ipsos MORI, Genomics England and Sciencewise have summarised recent findings on public attitudes to genomics, and identified areas for future research.
With support from Sciencewise, we have asked Ipsos MORI to find out how the public feel that the NHS should best take forward genomic medicine into its national programme of clinical care.Read more >
A new study led by the University of Oxford-based CRyPTIC consortium, working with Genomics England, Public Health England and the NIHR, reveals new opportunities for personalised medicine in the treatment of tuberculosis (TB).
The study, ‘Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing’, demonstrates much greater accuracy in predicting the susceptibility of the bacterium to anti-TB drugs than had been expected.Read more >
Professor Mark Caulfield, Chief Scientist at Genomics England said:
We are desperately saddened to learn of the tragic death of Professor Maria Bitner-Glindzicz. Maria was an outstanding clinical geneticist and champion of people with syndromic hearing loss.
In the 100,000 Genomes Project she was one of the earliest colleagues to be involved with the programme and a wonderful contributor. Her kindness, indefatigable enthusiasm and wisdom was unwavering and she will be greatly missed by her patients,Read more >
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’.Read more >
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,Read more >
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.Read more >
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 >
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.Read more >
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 >
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 >
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 >
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 >
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 >
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 >
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 >
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 >
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 >
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 >
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 >
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
“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 >
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.
Hear from Alex about his experiences of living with his rare disease,Read more >
– by Joanne Hackett, Genomics England Chief Commercial OfficerGenomics – 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 >
“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 >
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 >
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 >
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 >
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 >
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 >
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 >
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 ChairRead more >
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 >
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 >
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 >
Genomics England want to showcase the potential benefits whole genome sequencing can offer patients,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 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 >
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 >
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 >
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 >
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 >
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 >
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 >