1. The national context: The NHS Personalised Medicine Strategy
Professor Sue Hill Chief Scientific Officer for England
16th June 2016

2. Requirements for the future NHS - Forward View
Improved Prevention
Better integration
Data to link everything together
New models of delivery (& improvement of old)
Need to address ‘big three gaps’
Health & wellbeing
Finance & Efficiency
Care & Quality
Places emphasis on disruptive technology & scientific advances – Forward View recognises that its aims won’t come through gradual evolution

3. Addressing the gaps to deliver the future NHS
Care & quality gap
Health & wellbeing gap
Finance & efficiency gap
The NHS as a social movement
with a new relationship with patients and communities, and a focus on prevention
New models of care
Multispeciality providers
Primary and Acute care systems
7 day services
Testbeds & Vanguards
Improving existing models
Challenging variation
Standardisation& networks
Strategic programmes (eg cancer)
Enhanced health in care homes
Utilising technology & information
Data,informatics & connectivity
Large scale initiatives (eg genomics)
Telehealth, monitoring
Accelerated access
Sustainable resourcing, prototyping and assessment

4. Utilising technology and information 100,000 Genomes Project
In 2012 PM David Cameron launches 100,000 Genomes Project made possible due to the decreasing cost of sequencing and developments in computational power and data analytics
“By unlocking the power of DNA data, the NHS will lead the global race for better tests, better drugs and above all better care.
Utilising technology and information 100,000 Genomes Project
Major legacies for patients, the NHS and the UK economy by 2017
Increased discovery of pathogenic variants leading to new treatments, devices and diagnostics
Key Principles
A focus on rare inherited diseases and common cancers
Patients to be drawn from routine care and treated through routine channels
All participants to provide a fully informed consent providing for a wide range of data and tissue capture and broad categories of use including research and industry
However neither data nor tissues to go outside NHS-controlled ‘safe havens’ and all users to be properly authorised and monitored
A separate (government owned) company – Genomics England – formed to coordinate the project under an independent board, providing a ‘start-up’ mentality and drive
Accelerate uptake with advanced genomic medicine practice integrated into the NHS
Increase public understanding & support for genomic medicine
Stimulate and advance UK life sciences industry and commercial activity in genomics
Whole genome sequencing is providing a step change in the NHS diagnostic repertoire

5. Scope of the 100,000 Genomes Project
170+ rare diseases currently in scope with more under consideration with a clear process for assessing new conditions.
Aims of RD Programme include:
To add value with additional biological insights from WGS
To develop a programme of functional multiomics pathways & biomarkers
To create a unique dataset for rare diseases that may enable therapeutic innovation
7 common cancers currently in main 100,000 Genomes project ( Breast, Colorectal, Lung, Ovarian, Prostate, Renal, Sarcoma,) with 7 more being added
Aims of Cancer Programme include
To identify novel driver mutations of common cancers
Identify value of WGS in predicting response to therapy
To identify new pathways for therapies
Aligns with the broader strategy for these areas set out in the Cancer Taskforce report and the UK strategy for Rare Diseases 9

6. NHS Genomics Medicines Centres: the infrastructure for the future
GEP HEI x10
Nationwide network of 13 NHS Genomic Medicine Centres (GMCs) for populations of ~3- 5million with multiple local hospital trusts in their area as delivery partners (~ hospitals in total)
NHS GMCs provide:
Identification of suitable patients from routine care
Involvement of patients in ethics, data & consent issues
Supply of high-quality processed samples
Collection of linked phenotypic and clinical data
Validation of WGS findings and feedback to patients
Established operating models for the future across key areas of delivery driven by focus on innovation including:
Ethics, consent & patient participation
Standardisation and streaming models of care
Data collation and handling
Partnership and network working, inc new Genomic MDTs
Clinical Leadership for change
Integrated with workforce development led by HEE Genomics Programme upskilling workforce with access to newly commissioned MSc in Genomic Medicine 12

7. 13 NHS Genomic Medicine Centres working in a national network
How the elements of the Project fit together
Fire wall
13 NHS Genomic Medicine Centres working in a national network
Clinical samples and patient data ( diagnostic and clinical)
Laboratory processing including molecular pathology
Broad consent for research and re-contact
Validation and feedback to participants/clinical teams
Biorepository
Sequencing
DNA & samples for multi-omics
Clinical Data
Identifiable clinical data
Longitudinal
Linked to genomic data
Research Data
Deidentified
GeCIP and industry partners work within data centre
Participants
Data
Existing Clinical Data
Cancer & RD registries, HES, Mortality data, etc
Data and Analysis Improvement
Annotation & QC
Scientists/SMEs
Product comparison
Oversight:
Funding:
Other countries of UK and other international collaborators working to specification set down by NHS England
Clinicians & Academics
Training
Industry

8. Building the future of genomic medicine within the NHS
Develop structures for collection in NHS of consistent, high-quality consent, data and samples (for clinical AND research usage)
Develop and deliver a legacy of infrastructure: sequencing centre, sample pipeline, biorepository and large-scale data store, for sustainable use by the NHS. Human capacity and capability
Concentrating the UK Genomics Knowledge base (clinical and research) in a single location – with informatics to support access & use in frontline services
NHS England to embed Whole Genome Sequencing into routine commissioning of clinical pathways with sharing of all genomic molecular data
NHS, academics and industry partnerships working together at the outset to drive Genomic Medicine into the NHS

9. The vision: A move from illness to health
Delayed diagnosis
Late stage disease
Multiple conditions
Restricted treatment & management options
Poorer outcomes & patient experience
Using science and technology to improve outcomes and health through
Prognosis
Earlier disease stages offering more treatment options
Influencing lifestyle factors
Stratified medicine
This will deliver the 4 Ps of Prediction (& prevention) of disease, more Precise diagnoses, Personalised and targeted interventions with a more Participatory role for patients

10. Building the personalised medicine strategy
The NHS England Personalised Medicine Strategy will build on:
the knowledge & transformation of the 100,000 Genomes Project & the expectations for the future
the existing specialist laboratory infrastructure and
its reprocurement
the other cutting-edge diagnostics available
the wealth of patient and clinical data produced through the NHS’s unique integrated operation.
The strategy will define personalised medicine as:
a move away from a ‘one size fits all’ approach to the treatment and care of patients with a particular condition, to one which uses emergent approaches in areas such as diagnostic tests, functional genomic technologies, molecular pathway, data analytics and real time monitoring of conditions to better manage patients’ health and to target therapies to achieve the best outcomes in the management of a patient’s disease or predisposition to disease.
Diagnostics cost NHS £10bn per year
Drugs cost NHS £13bn per year. Rise of non-communicable disease + recognition in pharma industry that blockbuster ‘one size fits all’ drugs are only effective in 30-60% of patients

11. Benefits of personalised medicine: Improving efficiency and outcomes
Improves outcomes
Targeted therapy Identification of effective personalised treatments & adverse drug reactions
Accelerated diagnosis
based on underlying cause and incidental findings – rather than just grouped symptoms
Early disease detection
2-8 yrs before onset & symptoms become obvious with low cost stratification and intervention
Targeted disease prevention
Identification of predisposition markers or underlying processes to predict future disease & enable integrated approach with PH
Delivering the 4 Ps of Personalised Medicine
Prediction (& prevention) of disease,
More Precise diagnoses, Personalised and targeted interventions
More Participatory role for patients .

12. Building from a genomic base to developing personalisation of care
Technology, Innovation & Knowledge Base
DNA
Genomics
Metabolomics
Personalised Interventions &
Therapeutics
Clinical Change Model
Infrastructure
Policy & System Alignment
Transcriptomics
Proteomics
Patient generated data & self-reporting
Integrated phenotypic characterisation
Functional diagnostics
Informatics and digital health

13. Medicines & other interventions
Delivering Personalised Medicine - tailoring treatment & management to a patient’s individual makeup
Providing effective coupling of diagnosis and treatment
Diagnostics (inc WGS)
Data and analytics
Medicines & other interventions
Existing and repurposed drugs
Targeted medicines
Non-pharma
New discoveries
‘One size fits all’ treatments & intervention
Individually-tailored approach
Increasingly precision interventions based upon carefully identified subgroups within the broader population

14. Early opportunities for personalised medicine underpinned by genomicsPM
Where significant variation in patient response evident
eg Diabetes
Where familial links poorly identified
Where variation in access exists
Where new diagnostics can be applied
eg Cancer
Where adverse drug reactions significant
Eg Warfarin therapy
Where important to support a population-based approach eg FH
Development of personalised medicine is a multi-dimensional activity:
Evidence base for utility/cost effectiveness
Responsiveness & turnaround time for results
Evolution of Informatics and analytical platforms
Integrated and coordinated diagnostics
Whole pathway approach
Rapid near patient testing
Robotic molecular platforms
Locally-organised care
spectrum of locations

15. Academic partnerships at the forefront of discovery & innovation
Invention
Evaluation
Adoption
Diffusion
Research councils/ funders
NIHR
Innovate UK (Technology Strategy Board)
NHS Regional Innovation Hubs
NHS England Innovation Initiatives
AHSNs
NHS Supply Chain
Local Commissioning (CCGs)
NICE (Medical Technologies Advisory Committee & Implementation Collaborative)
Rapid Review Panel (DH)
Exemplar clinical pathways (AcMedSci)
UK Pharmacogenetic & Strat. Medicine Network
UK Clinical Research Collaboration (UKCRC)
GeCIP – bringing 2400 researchers from 300 institutions in 24 countries in 39 domains across cancer, rare disease and cross-cutting issues
2014
Government agencies and Non departmental public bodies
Shaded are support infrastructure
?3 yrs

16. The ethical frontline of scientific advance
Many new technologies are bringing with them ethical challenges - such as the use & handling of data, or if they have predictive ability – but issues can occur if science is felt to move too fast…. or too slowly
How far should the science go? Are the public ready?

17. Steps towards a better future
National approach to commissioning of tests and clinical pathways to ensure equity of access
Adopting a systematic way of stratifying patients with standardisation of tests & thresholds and use of risk calculators
Functional genomic pathway fully deployed (in real time care and also for monitoring)
Medicines and other therapeutic interventions optimised
Closer alignment between clinical practice & research for mutual benefit and improved outcomes for patients
New partnerships with industry
Patients empowered to create truly participatory environment
Validating & communicating the economic argument
Building capability capacity and engagement
Shift in mindset associated with a new taxonomy of medicine
Recognising iterative & developing nature of this process

18. Hold & deliver the vision – the time has never been more right
The New Frontier is here whether we seek it or not. Beyond that frontier are uncharted areas of science and space… unsolved problems…. unanswered questions… It would be easier to shrink from that new frontier, to look to the safe mediocrity of the past… But I believe that the times require imagination and courage and perseverance
John F Kennedy, 1960