The document describes plans to build a precision medicine ecosystem in Scotland by coordinating existing initiatives through the Stratified Medicine Scotland Innovation Centre (SMS-IC). The SMS-IC will develop a business model and service catalog to facilitate collaboration between technology partners, genomic service providers, and other organizations. This will help leverage existing Scottish assets and capabilities to accelerate the adoption of genomic services, enable broader participation across academia, industry and the NHS, and create precision medicine solutions that attract commercial investment. The goal is to transform disease management and accelerate biomedical research, healthcare, and economic growth in Scotland.
2. College of Medical, Veterinary
& Life Sciences
• Staff and students at 6 locations
•Gilmorehill
•Garscube
•Rowardennan (SCENE)
•Queen Elizabeth University Hospital campus
•West of Scotland Beatson Oncology Centre
•Glasgow Royal Infirmary
• Capital Investment of over £100M
• Annual turnover of £200M
• Laboratories of internationally
recognised quality
College of Medical, Veterinary
& Life Sciences
• Over 2,200 staff and 5,000 students
• Research annual income of over
£105M
• 3 REF Submissions ranked within the
UK Top 10
• 7 subjects in top 10 in Times / Sunday
Times league table (#1 for Dentistry,
Nursing & Animal Science)
• Ranked in the top 50 world universities
for clinical, pre-clinical and health
subjects (Times Higher & QS)
3. Includes UK’s first 7Tesla MRI scanner in a clinical setting + industry space
Imaging Centre of Excellence (ICE)
• 4-floor building due to open early 2017
• dedicated floor for 7T clinical research
• entire floor (11,000 sq ft) for industry
• multidisciplinary research space
• adjacent to Stratified Medicine Scotland
Innovation Centre and Clinical Research
Facility
4. Our vision is
• to transform diagnosis and
management….
• of cancer, inflammation and
cardiovascular disease…
• by accelerating biomedical
research, high quality
healthcare provision and
economic growth…
5. Scottish Ecosystem for Precision Medicine
Two MRC
Molecular
Pathology
Nodes
Advanced Exemplars
Academic Leadership
Forward-thinking NHS
Electronic Health
Records
Broad Industry Base
Rapid NHS Adoption
Diagnostics
Clinical Trials
Commercial Products
Connected Ecosystem
Chronic Disease,
Patient Trust
Data Integration and
Analysis
Fast Regulatory
Approval
illumina
& SGP
QEUH
6. Stratified Medicine Scotland –
Innovation Centre
5 Exemplars: Ovarian and Oesophageal Cancer,
Rheumatoid Arthritis, Multiple Sclerosis & IBD/COPD
7. Our Vision
To transform management of
chronic disease globally by
accelerating biomedical research,
high quality health care provision
and economic growth
8. Omics technologies available for integrated analyses
Modified from Shah, and Newgard Circ Cardiovasc Genet. 2015;8:410
Genome Transcriptome Proteome Metabolome
DNA
N~2x104
RNA
N~4x104
Protein
N~106
Metabolites
N~5x103
Enzymes
9. Linkage of Scottish Health Records
Scottish data from womb to tomb
Maternity
BIRTH
DEATH
Neonatal Record SMR11
Child health surveillance
Immunisation
GP consultations
Dental SMR13
Out patients SMR00 Hospital Admissions SMR01
Mental Health SMR04
Prescribing Screening
Community care SMR50
Cancer registrations SMR06
Cancer registry
CHI = Community Health Index
Administrative Data Research Centre
ESRC Urban Big Data
Farr Institute
10. Exemplar 1 – Rheumatioid Arthritis
• Involved:
• Prof Iain McInnes (UoG; PI)
• Dr Duncan Porter (GGHB)
• Prof Paul McKeigue (UoE)
• SMS-IC SMART Lab
• Sistemic
• ThermoFisher
• Aridhia
• Delivers:
• Pharmacogenomic relationship for response/non response to
methotrexate in RhA
• Utility:
• Allows clinicians to prescribe MTX only in cases where evidence base
predicts it will work
• Creates more compelling arguments for use of biological therapy in
early RhA
11. Exemplar 3 – Oncology indication
- ovarian cancer
• Involved:
• Prof Charlie Gourley (UoE; PI)
• Prof Iain McNeish (UoG)
• NHST HB
• NHSG HB
• SMS-IC SMART Lab
• ThermoFisher
• Aridhia
• Delivers:
• Identifies presence/absence of BRAC1/2 mutations in tumours
of OC pts currently denied treatment with PARP inhibitors
(olaparib).
• Utility:
• Would create evidence base for use of PARP inhibitors in OC
pts with somatic mutations (not just germline mutations)
• Treatment of 35% more OC pts with PARP inhibitors
12. Confidential - Aridhia
Exemplar 1 FutureMS – Multiple
Sclerosis
• Involved:
• Prof Siddharthan Chandran (Anne Rowling Clinic; UoE; PI)
• 4 Consultant Neurologists (NHST; NHSG, NHSGGC, NHSL)
• SMS-IC SMART Lab
• ThermoFisher
• Aridhia
• Fios Genomics
• Wellcome Trust CRF
• Delivers:
• Evidence based decision making for prescription of DMTs where
none currently exists
• Utility:
• Allows clinicians to prescribe DMTs where they will have the
maximum impact
• Creates opportunities for MS clinical trials using a national
Scottish cohort
13. Stratify patients
Patient sample sent
to CRO for
genotyping
Drug Trials Get Smarter
Mutation A Enrolled
Rejected (Treatment
Delayed)
Clinical Trial
agent targets
mutation A
NGS Panel
Trial B
Trial A
Trial D
Trial C
Mutation B
Mutation A
Mutation D
Mutation C
No Mutation
Enrollment through centralized
testing (old)
Enrollment through care-
embedded testing (future)
Patients with
disease
OLD
NEW
Modified from
14. Stratified Clinical Trial
Dundee
Clinical Research Centre
Health Informatics Centre&Memo
CRUK laboratories
Edinburgh
Wellcome CRF
Institute Med Cell Biol
Glasgow
Integrated CRF
South Glasgow University Hospital
Royal Infirmary
Beatson Oncology Centre
Screening
Uncontrolled Hypertension
BP>140/90
• Centres: Glasgow,
Edinburgh, Dundee
• 100 Subjects 0 14days 28days 56days 84days 112days
Bloods
AmbulatoryBlood
PressureMonitoring
U&E
Bloods
AmbulatoryBlood
PressureMonitoring
Bloods
AmbulatoryBlood
PressureMonitoring
Bloods
AmbulatoryBlood
PressureMonitoring
Bloods
AmbulatoryBlood
PressureMonitoring
2 week run-in
Discontinue diuretics
if prescribed
Torasemide 5mg OD
Repurposing of Torasemide based on genetic make up
15. Value of health from hypothetical precision medicine prevention
innovation in the USA
Dzau VJ, Lancet 2015;385:2118-2119
700
600
500
400
300
200
100
0
Cancer Diabetes Heart Disease Hypertension Lung Disease Stroke
Cumulative value of additional quality-adjusted life-years generated
(2012-60, valued at US$100,000 each)
Valueofhealth(US$billions)
10% Incidence reduction
50% Incidence reduction
16. Case study 8: Scotland Precision
Medicine Ecosystem
Scotland’s government has recognized that
existing PM initiatives and the various
organizations pursuing them must be co-
ordinated to realize their potential. To avoid
fragmentation and duplication across
initiatives, the Stratified Medicine Scotland
Innovation Centre (SMS-IC) will build a
business model and service catalog to
facilitate a ‘PM ecosystem’ in Scotland. This
business model would leverage existing
assets and capabilities in Scotland via
technology partners, and enable a route to
market for genomic service providers
(including the Scottish Genomes
Partnership, Generation Scotland, Glasgow
Polyomics and the broader Scottish small
and medium-sized enterprise community).
The SMS-IC will help organizations develop
capabilities and assets to create PM solutions
that attract commercial investment and have
the potential to generate revenue for Scottish
partners. This model is intended to accelerate
the adoption of genomic services and enable
broader academic, industrial and NHS
participation across Scotland.
18. The Precision-Medicine Ecosystem
Patient Clinician
Patient
portal
Displays &
clinical decision
support tools
Electronic health record
Biobank
• Patient Samples
Curated
knowledge base
Case-level
• Genomics/ other omics
• Phenotypes and outcomes
• Family and medical history
Researcher Clinical laboratory
Research database
• Research-derived data
Knowledge Sharing
Other
institutions
Modified from
Aronson & Rehm, Nature 2015:526:336