Genomics England Enters Bioinformatics Partnership with Illumina

illuminaGenomics England and Illumina, Inc today announce a partnership to develop a platform and knowledge base that can be used to improve and automate genome interpretation. The tools will operate within the Genomics England secure database to enable researchers and clinicians to access information and reports more readily.

Genomics England is partnering with Illumina to develop and deliver systems for clinical interpretation, decision support and knowledge curation for the 100,000 Genomes Project. This non-exclusive partnership with Illumina will run in parallel with the other clinical interpretation and bioinformatics providers involved in the 100,000 Genomes Project.

Illumina and Genomics England will collaborate to develop a set of informatics tools, which will support the delivery of genomic clinical and research services at a population scale to the NHS Genomic Medicine Centers and the Genomics England Clinical Interpretation Partners. All of the tools will include open application programming interfaces so that other bioinformatics solution partners can continue to provide services within the Project.

Under the terms of the partnership, Illumina will develop interpretation and reporting tools for the purpose of delivering reports on all genomes that are sequenced through the 100,000 Genomes Project. Genomics England will provide access to whole genome sequence and de-identified phenotypic data for the development of this suite of tools for personalised medicine. The tools will be used to curate and manage the knowledge base of information generated over the course of the project with a focus on rare disease and common cancers. Illumina and Genomics England have agreed to make available the clinical findings arising from the 100,000 Genomes Project to approved users of the tools developed through the collaboration.

The partnership also includes the ability for Genomics England to work with Illumina’s other tools, NextBio® and BaseSpace®, for data access and genomic data management. Illumina will make available to Genomics England researchers and the GENE Consortium part of the 100,000 Genomes dataset as a pilot within NextBio® Clinical, which will enable cohort analysis of complex phenotypic and genotypic information from de-identified genomes.

We are both committed to patients benefiting from genomic analysis across the NHS and to supporting clinicians and researchers in finding new genomic insights

“Our partnership with Genomics England will help change the way healthcare is practised” said Jay Flatley, Illumina’s Chief Executive Officer. “The development of our suite of technologies and platforms is critical to enabling physicians in the future to make educated diagnoses based on a patient’s genome which will lead to better health outcomes.”

Sir John Chisholm, Executive Chairman of Genomics England said: “This agreement allows Genomics England to access Illumina’s bioinformatics knowledge and experience to support our ambitions of transforming patient care and research. We are both committed to patients benefiting from genomic analysis across the NHS and to supporting clinicians and researchers in finding new genomic insights. Illumina is our key sequencing partner and they are now able to also support us, alongside our other partners, in solving the challenges of delivering clinical reporting and knowledge curation at a national scale”

More information

Sequencing partnership with Illumina

This agreement is an extension to our sequencing partnership with Illumina, which was announced in August 2014. Illumina remain our sequencing partner for the 100,000 Genomes Project.

The new bioinformatics partnership will develop a set of informatics tools, which will support the delivery of genomic clinical and research services at a population scale to the NHS Genomic Medicine Centres and the Genomics England Clinical Interpretation Partners.

The bioinformatics partnership is a non-exclusive partnership between Genomics England and Illumina which will run in parallel with the other clinical interpretation and bioinformatics providers involved in the 100,000 Genomes Project. All of the tools will include open application programming interfaces so that other bioinformatics-solution partners can continue to provide services within the Project.

Other bioinformatics partners

Last year we announced our contracts with Congenica, Omicia, Nanthealth and WuxiNextcode. These companies are also providing clinical interpretation services in the 100,000 Genomes Project.

We will continue to work with a range of partners. We expect the work with a variety of companies will complement each other, helping us to provide the best possible interpretation of genomic data. We will always look to work with companies who can provide the right expertise across a wide range of bioinformatics challenges.

Genomics England selects ICON as Data Management Partner

icon-logoGenomics England has today (09/02/16) announced that it has selected ICON plc, a global provider of drug development solutions and services to the pharmaceutical, biotechnology and medical device industries, as data management partner for the 100,000 Genomes Project.

ICON will use its genomics expertise and powerful data management capabilities to validate clinical data from the 70,000 participating patients and their families. This work will take place within the secure Genomics England data environment.

“We are very proud that our genomics knowledge and our capabilities in securely managing large clinical and real world datasets have been chosen by Genomics England for such an important and transformative project,” commented Professor Brendan Buckley, ICON’s Chief Medical Officer.

“Our partnership with Genomics England demonstrates our commitment to partnering with industry and government organisations in new and innovative ways to improve patient care by accelerating the development of targeted and personalised medicines that tackle complex diseases. Genomics England’s selection of ICON also reaffirms ICON as a trusted partner to government organisations as well as the world’s top pharma, biotech and medical device companies.”

James Peach, Managing Director for the 100,000 Genomes Project Main Programme at Genomics England said:

“We are delighted to be partnering with ICON. Their renowned expertise in data management will be fundamental in driving scientific research and accelerating the return of results for NHS patients”

Latest from the 100,000 Genomes Project

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.

George Freeman MP and Dame Sally Davies

George Freeman MP and Dame Sally Davies.

Cancer patients are joining those with rare diseases as part of the 100,000 Genomes Project. Patients are being recruited through 13 NHS Genomic Medicine Centres across the country.

With a patient’s consent, DNA from their tumour is sequenced, and then compared to DNA from healthy cells from a sample of blood.

Scientists will be able to build a more detailed understanding of how DNA affects a patients susceptibility to disease and response to treatment. In some cases, DNA sequencing will mean a specific recommend treatment can be recommended, based on a patient’s individual genome changes.  This has the potential to benefit patients here in the UK, and could also help in the global fight against cancer.

Secretary of State for Health, Jeremy Hunt said:

“Genomics is the future of medicine and the sequencing of cancer DNA confirms why the UK is a global leader in this field. Over half a billion pounds has been invested in genomics to ensure that NHS patients continue to benefit from the prospect of better diagnosis and better treatments.”

Life Sciences Minister George Freeman MP added:

“The recruitment of cancer patients is a significant milestone in the revolutionary 100,000 Genomes Project. It will help to unlock our understanding of the causes of this devastating condition, make the UK a leader in genetic research, and provide better diagnosis and more targeted treatment for thousands of NHS patients across the UK.”

Lloyd Sisters, Mary,Sandra and Kerry

Lloyd Sisters Sandra, Kerry and Mary.

Three people joining the project are the Lloyd sisters: Mary, Sandra and Kerry. All three were diagnosed with breast cancer within 15 months of each other.

The sisters heard about the 100,000 Genomes Project, and signed up through University Hospitals of Leicester NHS Trust in order to understand more about their conditions, and how their families might be affected.

Mary said “I was diagnosed in 2013 just after I retired. Then it was Kerry in January 2014, who still has children at school. It was horrendous. Then Sandra in February 2015. You just wonder when it’s all going to end. We’re all keen to take part. Finding out more opens it all up for the rest of our family.”

Sir Harpal Kumar, Cancer Research UK’s chief executive, said:

“It’s very exciting news that the first cancer patients are being recruited to the main phase of this ground-breaking project. The comprehensive mapping of patients’ DNA will reveal a vast amount of information that could help doctors and scientists develop new ways to prevent, diagnose and treat cancer more effectively in the future.

“Precision medicine is already having an impact on some cancer patients, who are benefitting from newly-developed, targeted treatments such as the skin cancer drug Vemurafenib. We hope that, one day, treatments based on the specific characteristics of the tumour, including the genetic make-up, can be offered to all patients – and this latest phase of the 100,000 Genomes Project is another important step towards this.”

The project has already delivered its first successes, with children at Great Ormond Street Hospital recently receiving life-changing diagnoses.

Sir John Chisholm, Executive Chairman of Genomics England said:

“The data from all  our participants provides a powerful resource for researchers  and  we hope that new understanding, diagnoses and treatments for rare diseases and cancer can be developed as a result of this.  Working together with the NIHR BioResource, Cambridge University, Cancer Research UK and Illumina has enabled Genomics England to reach this important milestone.”

Prof Sue Hill, Chief Scientific Officer for NHS England said:

“By giving clinicians and researchers access to their DNA and health history, genomic ‘patient’ pioneers such as the Lloyd sisters are helping to put the 100,000 Genomes Project and the NHS at the forefront of science. Our clinical staff are driving through new tumour tissue handling, preparation and assessment methodology across the NHS Genomic Medicine Centres which will lead to higher quality samples and faster, more accurate results for patients. The global community is now looking to Genomics England and its NHS partners to set global standards for tumour DNA extraction, whole genome sequencing and its analysis.”

Chief Medical Officer, Dame Sally Davies, also announced that her annual report for 2016 will focus on genomics, addressing some of the emerging issues in the field.

Here’s a video featuring Sir John Chisholm, George Freeman MP, Dame Professor Sally Davies, and Illumina’s Peter Fromen speaking on how the 100,000 Genomes Project is leading the way in transforming healthcare for NHS patients.

PanelApp has a new look

GenomicsEngland 150915.00_05_02_15.Still052The 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).

New features

You can now filter through the list gene panels – of which there are currently 170 across a whole spectrum of rare diseases – to help narrow your search and find ones you want to review or download. This list panels can also be sorted based on how many genes have been evaluated or how many expert reviewers have assessed each panel.

The sort and filter feature also works when you’re viewing a particular panel. Let’s say you want to look at the ‘Early onset and familial Parkinson’s Disease’ (opens in new window) panel, you can choose to show only genes that are on the ‘green’ list (meaning that they are very likely be the cause of the disease). Alternatively the genes can be sorted and filtered by name, number of reviews or the mode of inheritance.

Why is PanelApp important?

The aim of PanelApp is to utilise expertise and knowledge to establish a final diagnostic grade gene panel for each disorder. These will be used in the classification of genetic variants to aid clinical interpretation of rare disease genomes, and help to deliver life-changing results for patients and their families taking part in the 100,000 Genomes Project.

Thank you to all those who have already reviewed panels, your contribution is greatly appreciated and within each gene panel you can see acknowledgement of every expert reviewer. We have started to evaluate the reviews we have so far, and will revise and update the gene panels (Version 1.0) for use in the analysis of genomes in the 100,000 Genomes Project.

There are still many gene panels that require expert review. We are asking all rare disease experts to contribute. You can register to become a PanelApp reviewer here.

panelapp before and after

Championing recruitment to the 100,000 Genomes Project

Mehul Dattani - NTGMCThe Endocrinology Service at Great Ormond Street Hospital (GOSH) and University College London Hospitals (UCLH) is an extremely busy service that is predominantly outpatient based. The service provides care to a large number of patients with rare congenital disorders; the aetiology (causation) of the majority of these disorders is unknown. The major disorders that we look after are disorders of growth including complex forms of hypopituitarism, disorders of adrenal function, disorders of sex development, disorders of thyroid function, disorders of reproductive function, disorders of the pancreas and insulin secretion, and disorders of calcium homeostasis.

Investigators within the department are highly research active and have successfully identified a number of genetic causes underlying these disorders. However, overall, to date, only 10-25% of disorders have been explained in terms of aetiology.

Parents of our patients are extremely keen to understand their child’s condition, and in particular, what caused it. They often live in fear and with guilt that they may in some way have contributed to the causation of the condition. They also have a significant anxiety with respect to recurrence of the condition in future pregnancies, and even in future generations. So, the identification of an aetiological basis to the condition might allay their fears and mitigate their anxiety.

Importantly, we hope that the identification of a molecular pathogenesis to the condition using the 100,000 Genomes Project will allow an improved understanding of the conditions, the likely prognosis in terms of lifespan, associated morbidities and disease progression, and perhaps of greatest relevance to the patients and their families, novel therapies for these often highly devastating conditions.

This is why we have encouraged recruitment to the project and hope to continue to do so, helped by the families who are under our care and who want not only the best healthcare for their children, but also help future patients with similar disorders.

Professor Mehul Dattani is currently Head of Paediatric Endocrinology at GOSH, UCLH and UCL Institute of Child Health (ICH). He has an active clinical practice encompassing all areas of paediatric and adolescent endocrinology at GOSH and UCLH.

First children receive diagnoses through 100,000 Genomes Project

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, the results stand to have a major impact on many areas of their lives including future treatment options, social support and family planning. They also have the potential to help many more children with undiagnosed conditions who may be tested for these genetic mutations early on and be offered a diagnosis to help manage their condition most effectively.

Georgia and her family.

Georgia’s story

Between ages of one and two, Georgia’s family discovered all the problems she had one by one. As well as both physical and mental developmental delay, they found that she had a rare eye condition that affects her sight, her kidneys don’t function properly, and she has verbal dyspraxia meaning they don’t know if she will ever talk. Standard genetic testing brought up nothing and so doctors explained that she had an undiagnosed genetic condition.

Amanda, Georgia’s Mum, said: “I had no idea that it was possible to have an undiagnosed condition. I thought you get told you might have a genetic condition, you have the genetic test, and then you get the answer. Being told that Georgia had an undiagnosed condition was one of the hardest points of our lives as we felt like we were alone.”

When the family heard about 100,000 Genomes Project they were keen to sign up.

This is a pioneering project that will transform the application of genomics in our healthcare system.

Amanda said “As soon as we were on the project I felt a huge sense of relief. I felt that they now had all the information needed to look at the full picture and it just required someone to decipher and understand it. There’s nothing else we could do or give and there would be no other secrets to unlock with Georgia. They had her genome and so the answers had to be there somewhere.”

It was almost exactly a year until they received a phone call from Great Ormond Street Hospital geneticist Maria Bitner-Glindzicz explaining that they had found a mutation in a single gene in Georgia which was likely to be the cause of her problems. This, for the first time, gives Georgia a molecular diagnosis for her condition.

Professor Mark Caulfield, Chief Scientist at Genomics England said “It is our aim to bring new diagnoses and, if possible, identify potential therapies for participants in the 100,000 Genomes Project. This is a pioneering project that will transform the application of genomics in our healthcare system.”

Secretary of State for Health, Jeremy Hunt said: “Ground-breaking outcomes like this one for Georgia and her family are incredibly promising, and are the reason that this Government has invested over £200 million in bringing such revolutionary science to the NHS.

“By sequencing DNA on an unprecedented scale, we are also cementing the UK’s position as a world-leader in 21st century medicine”.

Georgia’s family are now hoping that over time they will find out more about her condition and her prognosis.  They also hope to connect with the other families that have children with the same gene change.

Amanda said: “It’s going to take time to find out more about this gene and what it controls and affects but I’m sure they’ll find more out. Medicine is not yet at the stage to offer genetic therapy but we have come so far in Georgia’s lifetime already that who knows what the future holds.”

Jessica and her family

Jessica’s story

Jessica Wright was also recently diagnosed through the 100,000 Genomes Project.

Mum, Kate Palmer talked about what the diagnosis means for them: “Now that we have this diagnosis there are things that we can do differently almost straight away. Her condition is one that has a high chance of improvement on a special diet, which means that her medication dose is likely to decrease and her epilepsy may be more easily controlled. Hopefully she might have better balance so she can be more stable and walk more. She’s now four years old still looks like a wobbly toddler trying to move around!

A diagnosis also means that we can link up with other families who are in the same boat and can offer support. The condition is still quite rare but there are definitely other children out there who have it. I’m really looking forward to saying ‘We are one of you, we have this problem too!’

More than anything the outcome of the project has taken the uncertainty out of life for us and the worry of not knowing what was wrong. It has allowed us to feel like we can take control of things and make positive changes for Jessica.

It may also open doors to other research projects that we can to go on. These could be more specific to her condition and we are hopeful that they could one day find a cure.”

GOSH Consultant in Clinical Genetics, Professor Maria Bitner-Glindzicz says: “With undiagnosed genetic conditions it really is a case of the more families we test, the more we can diagnose. In order to confidently say that a particular gene is likely to be the cause of a condition and not just natural variation that we see in everyone’s genes, we have to match up gene mutations and symptoms across several children to find common features. The more children we therefore have to cross check against, the more likely it is that we can find these common features and give a diagnosis.”

Watch Jessica’s story in this video:

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.”

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