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How Scotland's storming ahead with precision medicine

Increasingly, modern society is developing a data-driven approach to healthcare. This is evident within the health service in Scotland where the NHS allocates a unique identifier linked to electronic health records for every member of the Scottish population.

With its stable population, but a relatively high incidence of chronic disease like heart disease, stroke, diabetes and multiple sclerosis, Scotland has established itself as a valuable location for the development and clinical trials of novel treatments and therapies. What's more, it has a formidable supply chain of pharmaceutical services and both preclinical and clinical CROs to facilitate this process.

There are now in excess of 150 companies here with a turnover of $2.7bn, employing over 9,000 people.

An additional $5.7m of funding from the Scottish Government to create the Scottish Precision Medicine Ecosystem is just the latest of a series of initiatives that have helped Scotland to establish its resource, capabilities and expertise in the area of stratified and precision medicine.

Ed Hutchinson, Scottish Enterprise

Beyond the $1000 genome

The advent of the $1000 genome made possible by Next Generation Sequencing techniques promises much. We have the power of rapid, genomic-based analysis to more accurately characterise patients’ conditions and their predisposition to respond to particular therapies. We might even predict any possible adverse effects of a particular treatment.

Scotland now has the capability of supplementing the rich, historical data sets already accessible under appropriate governance, with disease-focused genotypic and phenotypic data from discrete patient populations.
This is thanks to the £20m Stratified Medicine Scotland Innovation Centre (SMS-IC) in Glasgow in 2014, and two MRC/EPSRC-funded Molecular Pathology Nodes in Glasgow and Edinburgh/St.Andrews. The most recent development was the formation of the £15m Scottish Genomes Partnership between the Universities of Edinburgh and Glasgow and US-company Illumina in 2015.

Creating a viable precision medicine ecosystem

The recent announcement of an additional £4m of funding from the Scottish Government to create the Scottish Precision Medicine Ecosystem, is just the latest of a series of initiatives that have helped Scotland to establish its resource, capabilities and expertise in the area of stratified and precision medicine
This Ecosystem will co-ordinate precision medicine resources and opportunities across Scotland, bringing together the findings from individual research projects and improving information sharing in the fight against diseases. 

The University of Edinburgh hosts the Farr Institute of Health Informatics Research as well as the Usher Institute of Population Health Sciences and Informatics. These two leading centres have, under the leadership of Prof. Andrew Morris along with Prof. Anna Dominiczak from the University of Glasgow and SMS-IC, played a central role in establishing the Scottish Precision Medicine Ecosystem.

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Targeting cancers, arthritis and in vitro responses to known drugs

SMS-IC (Stratified Medicine Scotland Innovation Centre) has already implemented four exemplar projects to demonstrate the core capabilities in place, to make rapid progress in the understanding of the development of chronic diseases and to design more effective treatments for defined patient populations. These studies are:

• Possible extension of the use of PARP inhibitor drugs to a wider group of patients with High Grade Serious Ovarian Cancer
• Identification of a genetic signature for Gefitinib - an Epidermal Growth Factor Receptor (EGFR) tyrosine kinase antagonist - response in patients with Oesophageal Cancer
• Identification of a genetic signature in Rheumatoid Arthritis patients that can predict those who will and those who will not respond to standard methotrexate treatment
• Investigation of the observed significant variation in vitro responses to known drugs, using human tissue samples collected from patients with Irritable Bowel Disease (IBD) or Chronic Obstructive Pulmonary Disease (COPD)

Next: pancreatic cancer and multiple sclerosis

A further two projects are planned as a result of further Scottish Government funding:

• Precision-PANC is a project intended to rapidly characterise an individual patient’s pancreatic cancer and introduce each to an appropriate clinical trial designed to treat that specific tumour type. This project coincides with a recent analysis of the blueprint of pancreatic cancer, revealing for the first time that there are four distinct types of mutation. The initiative is structured as a consortium of approximately 100 clinical and research members from across five CRUK centres including Glasgow, Manchester, Cambridge, Oxford and London.
• FutureMS aims to develop an evidence-based predictor for disease progression in patients with Multiple Sclerosis. This will deliver a toolset for clinics, allowing personalised and proactive disease-modifying treatment for multiple sclerosis that will improve the quality of clinical decisions around risk or benefit relationships with existing treatment options.

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Growing interest, involvement. And funding.

Industry activity and participation within the Scottish Precision Medicine Ecosystem is growing with the involvement of large companies such as ThermoFisher Scientific and Illumina, and a specialised SME base offering support and innovation in diagnostics, data handling and data analysis

Partners of the SMS-IC are Aridhia, Fios Genomics, Pharmatics, Sistemic, Destina Genomics, Biopta and Arrayjet. Many others are represented at Industry Precision Medicine Focus Groups run by SMS-IC and the Scottish Life Sciences Association.

To help facilitate collaboration, technology development and validation in this fast-growing area, Scottish Enterprise has recently launched its $5m Genomic Medicine Industry Catalyst Fund for companies who wish to collaborate with, or become part of this concerted, national programme of cutting edge activities in precision medicine. Yet another step on the road to a robust and active Scottish Precision Medicine Ecosystem.

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