Year: 2015

New NHS centres join 100,000 Genomes Project

Two new NHS Genomic Medicine Centres have today been unveiled as being part of the unique, innovative and world-leading 100,000 Genomes Project.

Yorkshire and the Humber and West of England are the latest NHS Genomic Medicine Centres to be added to the 11 centres already up and running. They are expected to start their work in February next year.

The 100,000 Genomes Project was announced by the Prime Minister in 2012 in a bid to transform diagnosis and treatment for patients with cancer and rare diseases in the fast-emerging field of genomic medicine. Eleven sites were announced in December 2014, and the new GMCs will cover two further regions: Yorkshire and Humber and West of England.

Life Sciences Minister George Freeman said “The opening of these centres, as part of our revolutionary 100,000 Genomes Project to sequence the genomes of NHS patients with cancer and rare diseases, underlines the UK’s position as a world-leader in 21st Century medicine.

George Freeman speaking at NHS event

George Freeman speaking at national NHS event

“Patients are at the heart of this project, and these NHS sites are the hubs through which we will pioneer new diagnostics and treatments for people with cancer and rare diseases.”

Dr David Black, Medical Director for NHS England in Yorkshire and the Humber said: “The opening of a new world-class NHS Genomic Medicine Centre here means the region will play an integral part in transforming prevention, diagnosis and treatment of diseases that are caused by genetic abnormalities or have an important genetic component. These include cancer and many inherited genetic disorders some of which are common, but others very rare.

“The work at the centre could help improve the prediction and prevention of disease, allow more precise diagnostic tests to be developed, and enable personalisation of drugs and other treatments. These advances are at the forefront of health technology and may improve both the outcomes and experience of treatment for many patients in the future.”

The initiative involves sequencing 100,000 human genomes – complete sets of people’s genes, plus all the DNA between genes – that will enable scientists and doctors to understand more about specific conditions.

Understanding DNA and how it can predict and prevent disease, provide a precise diagnosis and direct targeted treatment will soon play a role in every aspect of medicine, from cancer to cardiology.

The two new NHS Genomic Medicine Centres in Yorkshire and Humber and in West of England are extending the reach of the project, allowing for more comprehensive coverage of genomic medicine across the NHS in England.

This is good news for the future of healthcare in this country: the GMCs have a track-record of providing excellence in genomic services and have been evaluated by NHS England to ensure they meet the requirements to deliver the project.

Andrew Jack, Acting Clinical Director for Genomics in Yorkshire and the Humber, said: “We are looking forward to contributing to the success of the 100,000 Genomes Project.

“Genomics is key to the future of medicine and the formation of the Yorkshire and Humber NHS Genomic Medicine Centre will be a catalyst for the transformation of care. Patients with inherited genetic disorders and cancer will benefit though the provision of more efficient diagnosis, better patient information and by enabling access to the next generation of targeted therapies.

“We will achieve this by harnessing the enthusiasm of clinicians and patients across the region.”

Tony Gallagher, Chair of the West of England NHS Genomics Medicine Centre said: “This is an important step forward for patients and the development of future treatments in the West of England. The West of England NHS Genomics Medicine Centre is made up of provider organisations in Bath, Bristol, Cheltenham and Gloucester, the universities of Bristol and the West of England, the Academic Health Science Network, commissioners and patient organisations. Working together we have teams of dedicated and experienced doctors, nurses, counsellors, scientists, managers, commissioners and academics who are committed to realising the transformative possibilities that genomic medicine offers to patients in our area.”

There are now 13 designated Genomic Medicine Centres (GMCs) across the country. It is anticipated that around 70,000 people will be involved in the 100,000 Genomes Project, which includes some patients with cancer and rare diseases.

After DNA samples are collected, they are sent securely to be sequenced. Genomics England, together with a range of partners, then analyses the data. Results will be sent back to the NHS for validation and clinical action.

Sir John Chisholm, Executive Chair at Genomics England, said: “It is fantastic that patients across England now have the opportunity to take part in this pioneering project. We aim to bring benefit to participants as quickly as possible – and we hope to offer diagnoses, as well as treatment recommendations. We are also delighted with the government’s recent further investment in the 100,000 Genomes Project. This means that genomic medicine can become embedded in the NHS, and positions the UK as a world leader in personalised medicine.”

Professor Sir Bruce Keogh, NHS England’s National Medical Director, said: “We want to become the first country to introduce whole genome sequencing as a mainstream part of our national healthcare system. Better understanding genomics will help us transform how we care for patients, from one-size-fits-all to one-size-fits-one. These 13 NHS GMCs are on their way to bringing genomic diagnostics throughout the NHS in England, to the benefit of patients.”

Professor Sue Hill, the Chief Scientific Officer for England, who chaired the team evaluating the applicant GMCs, said: “The UK is already a leader in genomic technologies and the unique structure of the NHS allows us to deliver these advances at scale and pace for patient benefit. Yorkshire and the Humber and the West of England joining the established 11 localities will ensure equitable access to eligible patients in these areas to take part in this ground breaking Project. It is another step towards NHS transformation.”


Call for members of new Participant Panel

Joining the Participant Panel

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

The role of the Participant Panel is to ensure the interests of participants are always at the centre of the 100,000 Genomes Project. They will do this by:

  • Making sure that the experiences of participants are improved.
  • Responding to feedback.
  • Overseeing who should have access to participant data.

Who can be a member of the panel?

Family with boy with disability

Anyone who has taken part in the 100,000 Genomes Project can be on the panel. Carers of people who have taken part are also welcome. We would like participants from both the cancer and rare disease parts of the Project.

Members should be able to put themselves into other people’s shoes, and see the point of view of other participants as well as using their own experiences.

What will it involve?

The panel will meet twice a year in London. This is likely to be a ½ day meeting. Those who are unable to join meetings in person can join by telephone or Skype. There are likely to be documents to read or consider before any meetings. There may also be follow up work. Documents and paperwork will usually be sent by email.

We hope the panel will shape their own work and define their own responsibilities. All members will be expected to contribute their ideas and experiences to the panel.

Some panel members will also sit on other committees in Genomics England. These include:

Panel members who also sit on these committees will need to attend extra meetings.

The Access Review Committee (ARC) is an independent advisory body for the 100,000 Genomes Project. It examines requests for access to data in the project.

The ARC approves, declines, or amends requests for access to data in the 100,000 Genomes Project. Decisions take into account many factors including the nature of the research and the risk of identifiability.  External sources of expertise may be called to help the decision-making process.

The Genomics England Clinical Interpretation Partnership is overseen by the GeCIP Board. This is Chaired by Professor Dame Kay Davies, who also sits on the Board of Genomics England.

The main roles of the GeCIP Board are:

  • To oversee and coordinate the clinical interpretation programme.
  • To sponsor a twice yearly conference of all active GeCIP members.
  • To receive advice from Genomics England Advisory Committees.
  • To provide advice to the Genomics England Board.

Are expenses paid?

Panel members will be paid for their time and reasonable expenses will be covered. We will provide support and training for everyone on the panel.

How to apply

Please download the role description for more information.

Please email if you are interested in joining the Panel. In your email, please outline why you are interested in this role. Please also include how you are involved in the 100,000 Genomes Project. Finally, please include your name and contact details.

You can contact us on if you have any questions.

Genomics England Contracts with WuXi NextCODE as Clinical Interpretation Partner in both Rare Disease and Cancer

NEXTCODEGenomics England has today announced that it has contracted with WuXi NextCODE as a Clinical Interpretation Partner for the 100,000 Genomes Project. The China, US and Iceland-based company is the first to work with them on cancer samples and will also interpret samples in rare disease. Genomics England will work with the clinical interpretation partners to drive up the quality of interpretation of genomic data. This will lead to better understanding of disease and more personalised care for patients in the future.

The Project aims to sequence 100,000 whole genomes from approximately 70,000 people. Participants are NHS patients with a rare disease plus their families, and patients with cancer. The aim is to create a new genomic medicine service for the NHS, leading to more personalised care for patients. Some patients with rare disease may get a diagnosis for the first time, or discover what treatment might work best for them.

Their (WuXi NextCODE) sequence analysis platform will help us to make a direct impact on patient care.

WuXi NextCODE’s unique database model and clinical and tumor-normal analysis and reporting systems will enable NHS clinicians to begin to efficiently analyse patient sequence data and identify causative variants in rare diseases and driver mutations in tumors.

Dr Augusto Rendon, Director of Bioinformatics at Genomics England said: “We are delighted to be working with WuXi NextCODE. Their sequence analysis platform will help us to return high quality variant interpretation results back to clinicians and make a direct impact on patient care.”

Hannes Smarason, President and COO of WuXi NextCODE, a wholly owned subsidiary of WuXi AppTec (NYSE:WX), said: “We are very pleased to be playing a central role in a project that is a driving force for precision medicine worldwide. We look forward to putting our technology to work for NHS patients through interpretation and by applying the knowledge gained to advance the development of targeted new therapies for cancer and a range of rare conditions.”

Genomics England Selects Cognizant as a Technology Partner for the 100,000 Genomes Project

Genomics England has selected Cognizant as a technology partner to help design and implement the IT operating environment for the 100,000 Genomes Project.

Cognizant The 100,000 Genomes Project aims to sequence 100,000 whole genomes from NHS patients and their families, of which around 70,000 are participants with certain types of cancer or rare diseases. The project aims to enable new scientific discovery, medical insights and diagnostics. When completed, the NHS will be able to offer genomic medicine and personalised treatments to patients with conditions that are currently hard to treat.

As part of a two-year agreement, Cognizant will help provide end-to-end systems integration and analytics services for the technology platform built by Genomics England. This will enable Genomics England to augment its capability and capacity to process samples and interpret findings. An improved technology backbone supported by advanced analytics will also help Genomics England optimise its business processes and simplify the management and analysis of clinical, laboratory and health data.

We selected Cognizant for its extensive life sciences capabilities, knowledge of research… and experience in working with the UK public sector organisations.

“Combining genomic sequence data with medical records is a ground-breaking initiative. Researchers will study how best to use genomics in healthcare and interpret the data to help patients,” said David Brown, Head of Informatics Infrastructure, Genomics England. “We selected Cognizant for its extensive life sciences capabilities, knowledge of research, management and analysis of clinical data sets, and experience in working with the UK public sector organisations.”

“Large-scale sequencing initiatives like the UK’s 100,000 Genomes Project require a flexible, secure operating platform to help drive innovation in new diagnostic and treatment options for patients and healthcare providers,” said Bhaskar Sambasivan, Vice President of Cognizant’s Life Sciences practice. “Our culture of investing in understanding our customers’ businesses, deep programme management expertise in the healthcare and life sciences industry, and robust system integration and business analytics capabilities enable us to deliver a broad range of solutions for Genomics England as it creates genome sequences and clinical data at an unprecedented scale.”

Northern Ireland joins the 100,000 Genomes Project

Health Minister in the Northern Ireland Executive, Simon Hamilton, today announced £3.3m investment to create a Northern Ireland Genomic Medicine Centre that will provide rare disease patients with a much earlier and more accurate diagnosis.

It is estimated that 1 in 17 people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases being found in children. This investment will lessen the uncertainty and anxiety associated with not having a diagnosis for patients and their families, enabling the faster provision of appropriate treatment and care when a diagnosis is made.

The ongoing treatment and care of cancer patients, taking part in this programme, will be informed by information about their own genome. Improved treatment for future patients with cancer is also expected to increase as a result of this initiative.

This is an exciting opportunity to establish a strong partnership between Northern Ireland and England in genomic medicine. These joint investments will help establish a centre of excellence in genomic medicine in Northern Ireland and will support the UK-wide ambitions to reap the benefits for patients from whole genome sequencing research

Mr Hamilton said; “The creation of the NIGMC is one of the first actions in the Northern Ireland Rare Diseases Implementation Plan that I have launched today with an additional commitment of £70,000 investment to progress other key actions in the Plan.

“The Plan embodies my commitment to implement the UK Rare Diseases Strategy in Northern Ireland. It provides a holistic approach to caring for people with a rare disease and to maximise the available resources for research, innovation and collaboration across the UK to benefit the entire rare disease community. The Plan also provides the opportunity to work with the Republic of Ireland to realise the mutual benefits of cross-border collaboration on rare diseases.

“The NI GMC will bring together health, academia, industry and patients placing Northern Ireland, as part of the UK GMC network, at the forefront of medical innovation by sequencing genomes on an unprecedented scale, bringing better treatments to patients with cancer and rare disease.

“I welcome this partnership with NHS England, Genomics England Limited and the contribution of £750,000 funding for the NI GMC from the UK Medical Research Council. The Northern Ireland Executive is providing the remaining £2.5million investment in the GMC.”

Dr Nathan Richardson, head of molecular and cellular medicine at the Medical Research Council, said: “This is an exciting opportunity to establish a strong partnership between Northern Ireland and England in genomic medicine. These joint investments will help establish a centre of excellence in genomic medicine in Northern Ireland and will support the UK-wide ambitions to reap the benefits for patients from whole genome sequencing research and linkage to NHS data.”

senior woman with doctor on the ward or nursing home

Dr Shane McKee, chair of the NI GMC leadership group, said: “We are excited and delighted to be part of this important initiative. We welcome the Minister’s commitment to ensuring that our patients can benefit from – and participate in – the scientific advances that are coming directly from research into genes and genomes. In Northern Ireland we have a proven track record in rare disease and cancer diagnostics, and we already lead the UK in delivering vital health information to the point of care. Now the challenge is to turn clinical and genetic information into improved treatment and management.

Our participation in the 100,000 Genomes Initiative via the NI Genomic Medicine Centre will allow us to rapidly set up an infrastructure to deliver on these goals. The challenge will be to build an enduring legacy where patients, families, health professionals and researchers can create personalised precision care pathways that improve lives, enhance research, and support the wider community.”

Christine Collins, chair of the NI Rare Diseases Partnership said: “The Northern Ireland Rare Disease Partnership welcomes the publication of Northern Ireland’s Rare Disease Plan. The plan for the foundation of a Genomics Medicine Centre here in NI is especially exciting.

“The Centre brings hope and an opportunity to participate in building a better future for all families living with a rare disease; a superb new resource for the clinicians working to give them a diagnosis and improve understanding of their conditions; and clarity and impetus for those working to create new pathways for treatment and management.

“Northern Ireland has so much to contribute, as well as so much to gain, from these developments. Working together, we can reap the full benefits from these initiatives; and provide better opportunities for all our young people and families into the future.”

Professor Mark Caulfield, Chief Scientist of Genomics England said; “I am absolutely delighted that Northern Ireland are the first devolved nation to join the 100,000 Genomes Project. This funding by the NI administration and the MRC opens the opportunity of equity of access to genomic medicine for people across the province with rare disease, cancer and infection.”

Read more in the Department of Health, Social Services and Public Safety’s news story.

Genomics England selects LabKey Software for integrated data management solution

Genomics England selects LabKey Software for integrated data management solution

Genomics England has chosen the LabKey Server open source platform to provide its integrated data management solution. Genomics England will work with LabKey to design and develop a solution that will integrate and securely share complex clinical and genomic data for the 100,000 Genomes Project.


The 100,000 Genomes Project aims to sequence 100,000 whole genomes from approximately 70,000 people. Participants are NHS patients in the UK with certain types of cancer or with rare disease, as well as their families. The initiative will bring together an unprecedented depth of clinical and genomic information to improve prediction and prevention of disease, spur the development of new diagnostics, and support personalisation of medical treatments based on genotypes. This is currently the largest national sequencing project of its kind in the world.

We are excited to build on the rich foundation of LabKey Server. It is unique among tools in this field for its quality, extensibility, and reporting and analytical capabilities.

The LabKey solution will facilitate aggregation, review and integration of phenotype and genotype information across contributing labs, clinical sites and repositories. It will also enable review, reporting and analysis of this information by both clinicians and researchers, ensure protection of patient privacy, and support data de-identification and knowledge sharing.
Jim Davies, Chief Technology Officer of Genomics England explains, “By partnering with LabKey, we bring on board an excellent software platform and a technical team whose expertise in developing enterprise solutions for biomedical research and healthcare will significantly accelerate our efforts.
“We are excited to build on the rich foundation of LabKey Server. It is unique among tools in this field for its quality, extensibility, and reporting and analytical capabilities.”

“We see enormous potential for the work of Genomics England to benefit both patient care and research. We are proud and excited to be part of this innovative initiative,” adds Michael Gersch, CEO of LabKey Software.

“Building on the LabKey Server platform lets Genomics England leverage years of development with hundreds of research institutions and focus investment on incremental functionality needed beyond this proven base.”

5,000 Whole Genome Sequences

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. A number of additional families are due to join the Project from the NIHR Bioresource Rare Disease programme and several GMCs are now recruiting cancer patients as well.

Maddison, aged 6, was the first patient recruited at University Hospital Southampton. Read her unique story and why her family took part in the University’s research newsletter. In Oxford, the first cancer patients were recently recruited. In total more than 1,200 patients and their families who are looked after by the Oxford University Hospitals NHS Foundation Trust will take part.

histopathologist marking up a tumour sample slide for whole genome sequencing

Histopathologist marking up a tumour sample slide for whole genome sequencing.

Dr Anna Schuh, Director of the Oxford NHS Genomic Medicine Centre said: “For some of these patients, this new diagnostic approach will alter clinical management and can guide clinicians towards more effective treatment options. At the same time, by helping to recruit thousands of patients to this unique programme across England, we will make a significant contribution to collaborative research aimed at improving our understanding of these diseases which will ultimately lead to successful design of new therapies.”

As we reported in our last update, collecting DNA for sequencing from cancer biopsies has presented us with challenges. We are evaluating the different elements of sample handling and processing to optimise the quality and quantity of DNA for sequencing. One of the main areas we are looking at is different DNA preparation methods – using freshly frozen samples versus samples preserved using the ‘FFPE’ (formalin fixed, paraffin embedded) method.  FFPE processing is more routine in cancer diagnosis in the NHS, but the process affects the quality of the DNA. The fresh frozen method gives better quality DNA, but is not suitable for every tumour type, and not always practical.

We are working through these challenges with research collaborators, partners in pathology services and NHS England. The issues are not unique, and so our work will help inform other clinical and research studies in the NHS too. Our aim is to drive up quality of cancer DNA samples for molecular testing in the NHS, which will serve this programme but also have positive impact in delivery of cancer testing in the NHS more broadly. The results of our experiments will be back later in the year and will be used to improve the methods we use in the Project and beyond.

Get ahead and Master your Genomic Knowledge

Support your professional development by enrolling on one of the ground-breaking HEE-funded genomics courses.

The Genomics Education Programme (GEP) is the NHS’s method of ensuring its staff have the knowledge, skills and experience to ensure that the health service remains a world leader in genomic and precision medicine – particularly for NHS England Genomic Medicine Centres (GMCs) and their contribution to the 100,000 Genomes Project.

The Master’s in Genomic Medicine and individual CPPD modules have been developed to provide a multi-disciplinary and multi-professional course in genomics that can be applied to clinical practice and medical research. The Master’s or individual CPPD modules will enhance knowledge and skills in this rapidly evolving field.

The course itself will cover the following topics:

  • Introduction to human genetics and genomics
  • Genomics of common and rare inherited disease
  • Molecular pathology of cancer and application in diagnosis, screening and treatment
  • Pharmacogenomics and stratified healthcare
  • Application of genomics in infectious disease
  • Bioinformatics interpretation

Interested candidates can apply for the one year full-time, or a two year part-time Masters, or, if time or resource is limited, individual modules can be taken as CPPD. The GEP is funding more than 500 Master’s places across the clinical professions together with 1000 individual modules for CPPD.

The Master’s programme and individual CPPD modules are being delivered by a national network of nine universities covering England. If you are interested in completing either the Masters or individual CPPD modules please check your favoured university to obtain details of the programme modules, entry criteria and timing before going through the funding application process.

For more information about participating Universities, the Genomics Education Programme and our other free resources please visit:

Further information about the funding application process is available here:

Keep up with the latest developments in medicine with fully-funded Genomics CPPD Modules.

The Health Education England Genomics Education Programme (GEP) is offering NHS professionals fully-funded continuing personal and professional development (CPPD) modules as part of its work to ensure the health service remains a world leader in genomic and precision medicine.

These Masters-level modules have been developed as part of a multi-disciplinary and multi-professional course in genomics that can be applied to both clinical practice and medical research. They will allow professionals to enhance their knowledge and skills in this rapidly evolving field.

There are 16 different modules available covering the whole range of genomic medicine. These include:

  • Introduction to human genetics and genomics
  • Genomics of common and rare inherited disease
  • Molecular pathology of cancer
  • Ethical, Social and Legal issues
  • Advanced Bioinformatics

The modules are open to the full range of clinical professions and NHS managers and credits from individual modules can be built up into a Postgraduate Certificate or Postgraduate Diploma.

The courses are being delivered by a national network of nine universities across England. More details of the modules, eligibility criteria and how to apply are available on the Genomics Education Programme website.

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