Personalising medicine and mainstreaming genomics: the impact on nursing
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1 Personalising medicine and mainstreaming genomics: the impact on nursing Wednesday 10 th May 2017 Louise Banks, Jenny Hiley Hilary Fanning, Emma Skinner & Charlotte Hitchcock West Midlands Genomic Medicine Centre
2 Welcome Louise Banks Head of Education University Hospitals Birmingham
3 Improving Outcomes through Personalised Medicine (NHS England, 2016)
4 NHS Genomic Medicine Centres and the 100,000 Genomes Project Dec 2012: PM David Cameron launches project to sequence 100,000 Genomes from NHS patients with cancer and rare disease to cement UK as a world-leader in Genomic Medicine For cancer patients both their own genome and the tumour genome will be sequenced Dec 2014: NHS England establishes 11 NHS Genomic Medicine Centres to coordinate activity across populations of ~5 million, working to common protocols & specification to ensure comparability and quality of data NHS GMCs work as network model with Lead Organisation working in partnership with other trusts as Local Delivery Partners 2015: Experimental cancer pathway develops early protocols; Cancer initiation phase starts, with experimental work to determine effectiveness of protocols Dec 2015: Two new NHS Genomic Centres are launched Feb 2016: Cancer Main Programme is officially launched, with a phased roll-out April 2016: All first 11 NHS GMCs approved to recruit rare disease and cancer patients [now 13 GMCs across England]
5 Aims Following this workshop you will have a better understanding of: What genomics is and the 100,000 Genomes Project Genomics and personalised medicine The part you can play The resources available to you
6 What is genomics?
7 DNA is tightly packed into chromosomes, so it takes up less space. Most cells in the human body contain a complete set of DNA These letters hold the information for making and maintaining you. They form your unique instruction manual or genome Genomics is the study of the whole genome and how it works
8 What might this mean for patient care?
9 The 100,000 Genomes Project
10 West Midlands Genomic Medicine Centre
11 Project Aims & Objectives 10 Dec 2012: the Prime Minister announced that the Government intended to achieve a paradigm shift in the way that genomics is used across the NHS and committed the UK to sequencing 100,000 whole human genomes rare/inherited diseases and certain common cancers by the end of 2017 Increased discovery of pathogenic variants leading to new treatments, devices and diagnostics 100,000 Whole Genome Sequences with linked data set by end 2017 Accelerate uptake with advanced genomic medicine practice integrated into the NHS Increase public understanding and support for genomic medicine Stimulate and advance UK life sciences industry and commercial activity in genomics
12 What the NHS needs to contribute to the 100,000 Genomes Project Identification of eligible patients Involve and inform patients/public in ethics & consent Supply of processed DNA samples (blood and tumour) Collection and collation of observable clinical and diagnostic data Validation of Whole Genome Sequencing findings & feedback to patients
13 Personalising medicine and the impact of genomics Hilary Fanning Director of Research Development and Innovation University Hospitals Birmingham NHS FT
14 Personalising Medicine a historical perspective It is much more important to know what sort of a patient has a disease than what sort of a disease a patient has. (Sir William Osler)
15 Personalising Medicine. Building Blocks December m to launch the 100,000 whole genome sequencing programme & launch of Genomics England December st wave of NHS Genomic Medicine Centres launched September 2015 NHSE Board commits to Personalised Medicine strategy November UK government commits further 250m to 100,000wgs September NHSE Board agrees specification for Genomic Laboratory procurement September Improving Outcomes through Personalised Medicine - published November 2016 Genomic Laboratory PIN issued commencement of market engagement
16 Personalising Medicine Means No more one-size-fits-all what sort of patient has a disease rather than what sort of disease has the patient Prognostics to predict disease Targeted prevention and new strategies More precise diagnoses Stratification and therapies for population sub-groups Theranostics - combining therapies & diagnostics A more participatory role for patients
17 Current position Chronic inflammatory and degenerative disease, are increasing as survival improves Life style influences are creating a time bomb in diseases like cancer, obesity, diabetes, hypertension Drug treatments based and developed through one size fits all are ineffective in between 30 and 60% of patients (current NHS drugs bill is over 15 billion) NHS Diagnostic spend > 10bn Adverse reaction to medicine is responsible for 1 in 15 hospital admissions Data Tsunami which needs curating, analysing, interpreting, integrating into how care is delivered BUT Digital maturity in the NHS is variable Workforce preparedness an issue
18 Personalising Medicine examples from clinical research Clinical Trials eg MATRIX Selecting optimal treatment for each patient Driven by diagnostic tests Multi-arm RCT NIHR SRMRC early outputs Differences in inflammatory response to traumatic injury between males and females Now moving to interventional trials
19 From the news Child gene study identifies new developmental disorders A major genetic study has identified 14 new childhood developmental disorders. BBC News January 2017 Health data boom heralds new era of personalised medicine By Matthew Wall Business reporter, BBC News 13 March 2014 (From the section Business). a story of a teenager in Mexico who says he s invented a bra that could detect breast cancer. Julian Rios Cantu, 18, has proposed the idea that biosensors fitted in the garment could measure the temperature of the skin, but the idea needs testing first before we ll know if it might work Experimental blood test predicts advanced prostate cancer outcome A blood test could help predict which advanced prostate cancer patients are likely to do best when treated with certain targeted treatments, according to new UK research. Combining MRI scans could help spot where tumours are short of oxygen, helping to personalise treatment Giving pancreatic cancer patients better opportunities to join clinical trials - Precision Panc
20 Whole Genome Sequence Changing the paradigm of care the future? Diagnostics Profile Pharmaco-Genomic Profile Stratified Risk Profile Personal prescription for healthy living
21 How is genomics impacting on patient care?
22 John s story
23 I got the phone call about the 100,000 Genomes Project, I came in and had a chat about the whole genetic aspect of the disease and was happy to take part. I am passionate about it I think there need to be more projects like this and more money for research. Cancer patient Toby Knight at QEHB There s a chance I might get sick again. Obviously I hope I don t, but there s always a risk, so anything that can be done to increase knowledge and improve treatment could help. But it s not about me, it s about supporting anything that will help us understand more about cancer and potentially identify new, safer and more effective therapies.
24 Research nurse Margo Reynolds, consultant urologist Anthony Blacker and patient John Whitney at University Hospitals Coventry and Warwickshire NHS Trust I am more than happy to be on the genomes trial if it s going to help people in the long run It might not even help me but it might help my kids and grandkids and that s worth it.
25 The Evans family (centre) with clinical staff at Robert Jones Agnes Hunt It s one of the rarer diseases so we don t have a definite diagnosis yet. We are hoping that taking part in this project might pick up on what it is exactly [Sian is] suffering from. Hopefully if we get a diagnosis there might be a treatment. There might not be, but at least we can stay positive. Thank goodness these projects are here
26 This is why the genome project is so important, she said. Obviously I was born with this condition, but I was 25 before I was diagnosed. If I can just help just one child be diagnosed as a baby, receive treatment sooner and them and their family not to have to go through what we did then it will have been worthwhile Jackie Watkins outside the QEHB
27 Patients are keen to be helping towards this project and comment frequently about how they are keen to help with improving treatments and making a difference, if not for themselves, for others. They also want to find out why they or future sufferers get their brain tumours in the first place. For us as CNS team it is comforting to know that although we say to patients We do not know the reason you have a brain tumour - because to date we have no genetic links for most diagnosed with brain cancers - we are looking into this and may have answers in the future Claire Goddard, Macmillan CNS Neuro-oncology, UHB
28 The Heart Failure Team Historically the NHS has predominantly been a reactive health care service. Genomic / personalised medicine provides an opportunity for patient pathways to be developed proactively. Patients will be provided with more knowledge on which to base their decision making. This is essential for patients with rare diseases such as long term conditions in order to promote self-care. Jenny Borley, Heart Failure Team Manager, The Royal Wolverhampton NHS Trust
29 What does this mean for you and your patients? Charlotte Hitchcock, Genomics Ambassador Emma Skinner, Senior Genomics Nurse West Midlands Genomic Medicine Centre
30 Where can you find out more Personalised medicine & Genomics: Educational Resources Guide Improving outcomes through personalised medicine (NHS England, 2016) Genomics factsheets Online training resources CPD and MSc Genomics Medicine
31 Thank you Any questions?
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