Public Release: 

Faster, better, cheaper tests for blood disease

Genome sequencing to detect bleeding or clotting disorders being used to benefit UK National Health Service patients

Don Powell Associates Ltd

Researchers and clinicians from hospitals and universities from many countries have collaborated to better understand diseases of platelets -- the little cells that help blood to clot. They have developed a more effective, comprehensive and cheaper panel of genetic tests that are already being used to benefit both patients and the National Health Service (NHS) in the UK.

Development of the test is described in the journal Blood, published in print on Thursday June 09, 2016.

Around three million people worldwide have a rare bleeding or clotting disorder. These diseases are caused by small changes in people's genes and may be passed on from parents to children. The most familiar and best understood example is the bleeding disorder haemophilia, caused by changes in two clotting genes; however, dozens of other bleeding and platelet genes are known and many remain to be discovered.

Understanding the genetic causes of these diseases helps NHS doctors and nurses to provide better treatments to patients and to provide patients and their families with information predicting the likely development of the disease. A speedy diagnosis is essential to identify affected relatives and to provide support, advice and treatments that will improve a patient's quality of life and prevent medical emergencies.

"This is great news for NHS patients that, through the work the National Institute of Health Research has done to bring together leading researchers to create better and cheaper diagnostic tests, patients will now get the information they need about the causes of blood diseases," said the UK's Minister for Life Sciences, George Freeman, MP.

"Through our commitment to investing £1bn [$1.45bn] every year in the National Institute of Health Research during this Parliament, we're funding world class medical breakthroughs which can improve patient outcomes and help avoid unnecessary NHS treatment costs."

Dr Kate Downes from Cambridge University leads the team responsible for facilitating the transfer of the discoveries into clinical practice in the NHS.

"It's a real privilege that the efforts of my team are providing faster diagnoses to patients by bringing state-of-the-art DNA sequencing technology to the bedside," said Dr Downes.(1)

"This is an example of how genome science will pave the way for a revolution in medicine that will allow each patient to receive the best possible care tailored to his or her medical needs."

In the past, the discovery of new genetic changes causing rare diseases did not immediately result in better tests for NHS patients. The cost and time it took to read our genetic code made it impossible to bring better tests to the frontline. With new genetic technologies, more powerful computer analysis and the use of universal descriptions of disease symptoms (2), this is no longer the case.

"It was intriguing to observe that the symptoms of hundreds of patients with rare disorders of the blood were very diverse and spanned many parts of the body beyond the blood system," said Dr Ernest Turro, Chief Analyst for the NIHR BioResource at the University of Cambridge and Medical Research Council Biostatistics Unit.

"We had to develop new computer methods to find commonalities between different patients who also shared particular genetic changes. In one example, bringing information together from three families uncovered a genetic link between very big platelets and deafness.(3)"

In the studies published today, researchers working with the National Institute of Health Research (NIHR) and Illumina Cambridge sequenced the genomes of 5,000 patients. The results and the assessment by the treating clinicians were recorded systematically in a computer database. Researchers then applied mathematical and computational approaches to search for variants present in patients' genomes, but absent from or rare in the general population, that might explain the patients' symptoms.(4)

Professor John Bradley, a kidney doctor at Cambridge University Hospitals, worked with colleagues across the NHS and overseas to develop a structure for the safe sharing of all this information obtained from patients' DNA and from their clinical notes.

"Without the NIHR BioResource-Rare Diseases it would never have been possible to make these important discoveries," explained Professor Bradley.

"I am proud of what the hundreds of doctors and nurses have achieved by working together with patients across the NHS and similar teams in other European countries and the United States. Their work on the tiny cells named platelets is relevant also to patients with fragile bones (5) and possibly even those with heart rhythm problems."(6)

The developments are a prime example of collaborative genome science. The researchers at Cambridge University Hospitals and NHS Blood and Transplant work hand-in-glove with their colleagues at UCL (University College London) and the Katherine Dormandy Haemophilia and Thrombosis Centre (KD:HT) at the Royal Free London NHS Trust in North London. Teams of computer experts are working with nurses, doctors, patients and their close relatives, as well as with researchers in laboratories, to deliver affordable new blood tests and to use the new knowledge learned about the role of genes in rare diseases.

"In the past four weeks, we have marked ten years of collaborative work in the UK through the National Institute for Health Research," says Professor Amit Nathwani, Professor of Haematology, UCL Cancer Institute. "These immense improvements in the care of NHS patients could not have been achieved without the National Institute for Health Research, which brings patients together with the best teams of researchers.

"Dr Keith Gomez, from my team, is now leading the introduction of the new DNA test across all NHS hospitals, resulting in tangible patient benefit. This programme is an excellent example of how the NIHR platform enables the best universities in the country to work together, thus accelerating improvements in the care we provide to NHS patients."

The research team believe that their work was rapidly translated into clinical application because the global community grasped this opportunity to improve diagnosis for patients.(7)

Alongside the new better, faster and cheaper diagnosis sits a hope for better treatment. Leading researchers such as Professor Nathwani are inviting patients to join pioneering studies that can bring long-lasting treatments or even cures for certain rare diseases of the blood.

Identifying genes that cause rare bleeding or clotting disorders will help patients not only with these diseases. A better understanding of the genes involved in platelets will help researchers investigating much more common life-threatening events involving such as heart attacks and strokes.


Notes to Editors

Publication details

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic and platelet disorders. Simeoni I, Stephens JC, Hu F, Deevi SVV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJA, Westbury SK, Greene D, Papadia S, ..., Ravel-Vilk S, Gresele P, Bellissimo D, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K*, Freson K*, Ouwehand WH*, Turro E*. Blood, 2016.

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Westbury S*, Turro E*, Greene D*, Kelly AM*, Lentaigne C*, Bariana T*, Simeoni I, Pillois X, ..., Rendon A, Gomez K, Laffan M, Lambert M, Nurden P, Ouwehand WH§, Richardson S§, Mumford AD§, Freson K§ (on behalf of the BRIDGE-BPD Consortium). Genome Medicine, 2015 Apr; 7:36.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Stritt S*, Nurden P*, Turro E*, Greene D, Jansen SBG, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, ..., BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, Van Geet C, Raymond FL, Laffan MA, Nurden A, Nieswandt B, Richardson S, Freson K§, Ouwehand WH§, Mumford A§. Blood, 2016.

Phenotype similarity regression for identifying the genetic determinants of rare diseases. Greene D, NIHR BioResource, Richardson S*, Turro E*. American Journal of Human Genetics, 2016 Mar; 98:1-10.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding and bone pathologies. Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett C, ..., BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley J, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K*, Ouwehand WH*. Science Translational Medicine, 2016 Mar; 8:328.

Defects in TRPM7 channel function result in deregulated thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture. Stritt S, Nurden P, Favier R, Favier M, Gotru SK, van Eeuwijk JMM, Schulze H, Nurden AT, Lambert MP, Turro E, Burger-Stritt S, Matsushita M, Ferioli S, Mittermeier L, Ballerini P, Zierler S, NIHR BioResource, Chubanov V, Laffan MA, Gudermann T, Nieswandt B*, Braun A*. Nature Communications, 2016 Mar; 7:11097.

Inherited platelet disorders: towards DNA-based diagnosis. Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH (on behalf of the BRIDGE-BPD Consortium and the ThromboGenomics Consortium). Blood, 2016.

Affiliated organisations

Full lists of institutions and organisations involved in the research can be found in the publications.

NIHR BioResource

The research studies were undertaken as part of the NIHR BioResource.

The NIHR BioResource functions as a partnership between the NIHR Biomedical Research Centres at Imperial College London, King's/Guy's and St Thomas' Hospitals London, Newcastle Hospitals, South London and Maudsley Hospitals, Oxford University Hospitals, University College London Hospitals and the Cardiovascular Biomedical Research Unit in Leicester. The NIHR BioResource, which currently includes over 60,000 research volunteers, most of whom have undergone analysis of their genome.

About the University of Cambridge

The University of Cambridge was established over 800 years ago and is made up of 31 colleges and more than a hundred departments. Cambridge is one of the top-ranking universities in the world. Its mission is to contribute to society through the pursuit of education, learning and research at the highest international levels of excellence. At the heart of that mission are its core values of freedom of thought and expression and freedom from discrimination.

The University of Cambridge has been the birthplace and touchstone for many of the most significant scientific breakthroughs since science began. After Cambridge celebrated its eight hundredth anniversary year in 2009 its eyes are firmly on the future, and ensuring that the modern University continues to be a leading international centre for study and research. Find out more at

About Cambridge University Hospitals and the Cambridge Biomedical Research Centre

Based within the most outstanding NHS and University partnerships in the country, the NIHR Biomedical Research Centres are leaders in scientific translation. They receive substantial levels of funding from the National Institute for Health Research (NIHR) to translate fundamental biomedical research into clinical research that benefits patients and they are early adopters of new insights in technologies, techniques and treatments for improving health. The Cambridge Biomedical Research Centre coordinates the NIHR BioResource.

About NHS Blood and Transplant

Professor Amit Nathwani is also consultant Haematologist and Principal Investigator for NHS Blood and Transplant. NHS Blood and Transplant is a joint England and Wales Special Health Authority. We are responsible for ensuring a safe and efficient supply of blood and associated services to the NHS in England. We are also the organ donation organisation for the UK and are responsible for matching and allocating donated organs.

About UCL (University College London)

UCL was founded in 1826. We were the first English university established after Oxford and Cambridge, the first to open up university education to those previously excluded from it, and the first to provide systematic teaching of law, architecture and medicine. We are among the world's top universities, as reflected by performance in a range of international rankings and tables. UCL currently has over 35,000 students from 150 countries and over 11,000 staff. Our annual income is more than £1 billion. | Follow us on Twitter @uclnews | Watch our YouTube channel

Royal Free London NHS Foundation Trust

The Royal Free began as a pioneering organisation and continues to play a leading role in the care of patients. Our mission is to provide world class expertise and local care. In the 21st century, the Royal Free London continues to lead improvements in healthcare. The Royal Free London attracts patients from across the country and beyond to its specialist services in liver and kidney transplantation, haemophilia, renal care, HIV, infectious diseases, plastic surgery, immunology, Parkinson's disease, vascular surgery, cardiology, amyloidosis and scleroderma and we are a member of the academic health science partnership UCLPartners.

In July 2014 Barnet Hospital and Chase Farm Hospital became part of the Royal Free London. Read 'A bigger trust, a better future'.


The National Institute for Health Research (NIHR) is the major governmental fund provider for clinical translational research in the NHS. The mission of the NIHR is to maintain a health research system in which the NHS supports outstanding individuals, working in world-class facilities, conducting leading-edge research, focussed on the needs of patients and the public. It has provided the lion share of funding for the NIHR BioResource -- Rare Diseases and whole genome sequencing. A full listing of funding for the research can be found in the publications.

A full list of funding agencies can be found in the papers.

Contact information

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