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    UKPGx Chair Appointed to NHS Board

    NHS England’s Chair, Lord David Prior, has welcomed the appointment of one of the country’s leading experts in genetics and personalised medicine, based at the University of Liverpool, to the organisation’s board.

    Professor Sir Munir Pirmohamed, who is based at the University’s Institute of Translational Medicine, has been appointed by the Secretary of State as a non-executive director of NHS England. Among other posts, he is the David Weatherall Chair of Medicine and NHS Chair of Pharmacogenetics at the University, and Director of the MRC Centre for Drug Safety Science and Wolfson Centre for Personalised Medicine. Professor Pirmohamed is also the Founder and Chair of the UK Pharmacogenetics & Stratified Medicine Network.

    His work has seen him at the forefront of research into the personalisation and safety of medicines based on an individual’s genetic make-up, and he was awarded a Knighthood in the Queen’s birthday honours in June 2015 for services to Medicine.

    Lord Prior, said: “The NHS stands on the brink of being able to harness the benefits of genomic research to provide ever-more precise a2nd safe treatment for patients with a wide range of conditions. The completion of the 100,000 Genomes project puts the UK at the leading edge of a fundamental breakthrough in medical science. How we incorporate genomic medicine into the NHS, and combine genomic data with NHS data to stimulate research into further tests and treatments, is the greatest opportunity in a generation to improve the health of people in England, and indeed the rest of the world.

    “As one of the world’s leading experts in this field, Professor Pirmohamed will bring invaluable knowledge and expertise to the table as we seek to make the most of this opportunity, and deliver as much benefit to patients as possible.

    “I look forward to working with him and other colleagues in the New Year, as we will also be working to translate the important ambitions which will be set out in the NHS Long Term Plan into real improvements for patients in every part of England.”

    Professor Pirmohamed’s appointment takes effect from 1 January 2019, for a period of three years, and was made following the established process for appointments to public boards.

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    100,000 Genomes Sequenced in the NHS

    Health Secretary Matt Hancock has announced that the 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has reached its goal of sequencing 100,000 whole genomes from NHS patients.

    This ground-breaking programme was launched by then-Prime Minister David Cameron in 2012, with the goal of harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer. The task was to make the UK a world leader within five years.

    The 100,000 Genomes Project has delivered life-changing results for patients with one in four participants with rare diseases receiving a diagnosis for the first time, and providing potential actionable findings in up to half of cancer patients where there is an opportunity to take part in a clinical trial or to receive a targeted therapy.

    To do this Genomics England worked with NHS England to create 13 NHS Genomic Medicine Centres (GMCs) to support the project, a state-of-the-art sequencing centre run by Illumina, Inc. and an automated analytics platform to return whole genome analyses to the NHS.

    Genomics England and NHS England are extremely grateful to the 85,000 participants, 1,500 NHS staff, over 3,000 researchers, the National Institute for Health Research and the UK Government whose support and funding have been key to the success of this pioneering NHS transformation programme.

    As a result the UK has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.

    The project has laid the foundations for a NHS Genomic Medicine Service, which will provide equitable access to genomic testing to patients across the NHS from 2019.

    Health Secretary Matt Hancock said:

    Sequencing the 100,000th genome is a major milestone in the route to the healthcare of the future. From Crick and Watson onwards, Britain has led the world in this amazing technology. We do so again today as we map a course to sequencing a million genomes. Understanding the human code on such a scale is part of our mission to provide truly personalised care to help patients live longer, healthier and happier lives.

    I’m incredibly excited about the potential of this type of technology to unlock the next generation of treatments, diagnose diseases earlier, save lives and enable patients to take greater control of their own health.

    Sir John Chisholm, Chair of Genomics England, said:

    At launch the 100,000 Genomes Project was a bold ambition to corral the UK’s renowned skills in genomic science and combine them with the strengths of a truly national health service in order to propel the UK into a global leadership position in population genomics. With this announcement, that ambition has been achieved. The results of this will be felt for many generations to come as the benefits of genomic medicine in the UK unfold.

    Professor Mark Caulfield, Chief Scientist at Genomics England, said:

    The sequencing of 100,000 whole genomes marks an extraordinary UK achievement that is transforming the application of genomics in our NHS. Genomics England will continue to analyse these genomes alongside life course clinical information to reveal answers for as many participants as possible and improve their NHS care. With the generous support of our participants, the NHS, the National Institute for Health Research and the Government we will continue to ensure the UK’s global leadership in genomic healthcare.

     Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England, said:

    This achievement has only been possible because of the amazing commitment and contribution of NHS teams across the country and I would like to thank each and every one of them for rising to this challenge and excelling in its delivery.

    The results, which will continue to be returned to patients, show how genomic medicine can transform lives, bringing quicker and better diagnoses and increasing the number of patients surviving cancer, and the opportunity now is for the NHS to turn this research into reality by introducing sequencing technology as part of our world-leading NHS Genomic Medicine Service.

     Jillian Hastings Ward, Chair of the National 100,000 Genomes Project Participant Panel, said:

    This is a fantastic milestone. Thanks to the dedication and hard work of the whole project team, patients and their families are starting to receive life-changing diagnoses. We look forward to seeing more results in the near future – for the rest of the project participants, and for the wider public who will soon benefit from genomic medicine in the NHS. We will also keep working with Genomics England to make sure they keep patients’ interests at the heart of all they do.

    Francis deSouza, President and CEO of Illumina, Inc., said:

    We congratulate Genomics England and the NHS for reaching this historic achievement and are honored to be part of it.  The accomplishment of the 100,000th genome is only the beginning in many respects, but a significant step towards realizing the promise of genomic medicine to develop products for earlier detection and treatment of many rare diseases and cancers.

    James Fenton, Project Manager at the NIHR National Biosample Centre – the facility that stores and processes samples for the 100,000 Genomes Project – said:

    It has been a unique study to have been part of and a fantastic achievement on all fronts, really demonstrating that the UK is leading the way in genomic research towards personalised medicine. This milestone is testament to the hard work and dedication put in by all at National Institute for Health Research National Biosample Centre and our partners in Genomics England, the NHS GMCs and Illumina.

    Find out more at the Genomics England website.

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    Genomics England & Helomics Update

    Helomics, a personalised healthcare company whose mission is to improve the standard of care for cancer through innovative precision oncology products and boutique CRO services, and Genomics England announced today that Helomics has become a full Discovery Forum partner. Helomics will utilize the rich de-identified genomics and clinical data set for the 100,000 Genomes Project to further develop its artificial intelligence-based precision oncology platform for ovarian cancer.

    The 100,000 Genomes Project is a groundbreaking initiative, sequencing whole genomes of National Health Service patients with rare diseases and their families, as well as patients with common cancers. The aim is to transform healthcare through new diagnoses and personalized treatments. The Precision Medicine Market is set to exceed USD 96 billion by 2024; according to a research report by Global Market Insights, Inc. Helomics continues to be an innovative precision medicine company that will continue to show growth in this robust market in 2019 and beyond.

    “We are excited to partner with Genomics England and gain access to the rich, de-identified, genomic and clinical data of the 100,000 Genomes Project. We intend to apply our state-of-the-art machine learning to this dataset to expand the capabilities of our precision oncology platform, which helps oncologists offer individualized treatment options for ovarian cancer patients. We anticipate this to be the first of several projects, leading ultimately to bringing the benefits of Helomics precision oncology to ovarian cancer patients within the NHS,” commented Gerald Vardzel, President and CEO of Helomics Corp.

    Expanding on the scientific goals of the project, Dr. Mark Collins, VP of Innovation and Strategy at Helomics, said:

    The promise of precision oncology is therapy tailored to the patient’s own cancer, yet the reality is that while we can identify alterations in the DNA of the patient’s tumor most of these mutations are not actionable with current drugs. The goal of this project is to combine genomic profiling of the patient tumor (from the Genomics England data), with the drug response of the patient’s own tumor, grown in the laboratory (Helomics unique dataset), utilizing the power of machine learning to create a “virtual” model of the tumor. We can then use this model to guide the oncologist in selecting appropriate standard of care drugs to best treat the patient, as well in partnership with pharma companies to develop the next generation of precision therapies.

    Commenting on the new Discovery Forum Partner,  Joanne Hackett, Chief Commercial Officer of Genomics England, said:

    We’re delighted to work with Helomics and their precision oncology products to maximize the benefits to patients. As part of the Discovery Forum, Helomics will collaborate with other companies at the forefront of genomics and technology, to ensure that we turn research findings into treatments, diagnostics and benefits for patients as soon as possible.

    Click here to read the full story on the Genomics England website.

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    Genomics England & Congenica Update

    Genomics England has chosen Congenica as its Clinical Decision Support Service partner to help deliver the new NHS Genomic Medicine Service, which rolls out this month.

    The decision follows a competitive tender process involving the leading providers of genomic diagnostic decision support. Congenica’s SapientiaTM platform was selected using robust criteria that included usability, clinical accuracy, case throughput and commercial value.

    SapientiaTM has already been validated within Genomics England’s 100,000 Genomes Project and will help clinicians, scientists and researchers to make informed medical decisions – generating actionable clinical reports.

    Professor John Mattick, Chief Executive of Genomics England, said:

    By working with Congenica from the start of the 100,000 Genomes Project, we’ve been able to provide high quality variant interpretation of genome sequences to the NHS, helping deliver benefits to patients at scale. Now that we are embarking on the next exciting step in our journey to embed genomic medicine in healthcare, Congenica will continue to play an important role with Genomics England in delivering results to clinicians and diagnoses to patients.

    Read more on Congenica’s website.

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