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Stratified Medicine Scotland Innovation Centre (SMS-IC)

Healthcare gets personal…

Stratified Medicine Scotland Innovation Centre (SMS-IC)

Stratified Medicine Scotland Innovation Centre (SMS-IC)

WHERE: Glasgow (Queen Elizabeth University Hospital)
FUNDING: £8 million (initial investment)

Healthcare gets personal

The Stratified Medicine Scotland Innovation Centre (SMS-IC) is so new and dealing with such a new science that everyone involved learns something new every day – whether it's the use of innovative technology, an invaluable insight into killer diseases provided by new genetic sequencing data, or how to help persuade the population of Scotland to volunteer for one of the biggest-ever medical experiments in history...

It's the home of “the Scottish disease” and has one of the highest rates of diabetes, cancer and cardiovascular diseases of anywhere else on the planet and, because of this, Scotland also promises to play a major role in the development of more effective treatments for many diseases – with the Stratified Medicine Scotland Innovation Centre (SMS-IC) leading the way, by helping to advance our understanding of the genetic factors involved in disease. Ultimately, this will lead to individual therapies based on our understanding of how our genes help to predict our responses to drugs (pharmacogenomics), and also help us understand the progression of many diseases, in the process, saving lots of money and improving public health. The days of “hit and miss” may soon be over, thanks to better knowledge of the links between genes and disease, and prevention may overtake cure in the race to beat many diseases.

The Chief Executive of SMS-IC, Dr Mark Beggs, is often asked how such a small country can possibly make such a big contribution, but the answer is simple: we may only have 5.3 million people, but their genes can be a window into many diseases, partly thanks to integrated medical records. It is also much easier to work with a single healthcare provider, says Beggs. In most other countries, patient data is spread over multiple organisations, including private healthcare companies, and this makes it difficult to engage with the data at a national level. According to Beggs, people in Scotland seem more predisposed to participate in genetic research because they see the long-term benefits and also trust their records will remain confidential and only be used for progressive research – if new treatments emerge, we will all profit, not just the big pharmaceutical companies. In addition, people in Scotland do not move around very often – annual turnover is roughly 1–2%, compared to about 9% in major cities such as London, and this positive asset really helps when following patient outcomes as part of precision medicine studies.

Poor health statistics give researchers plenty to chew on, but there is also growing evidence that people in Scotland are happy to help. For example, SHARE (the Scottish Health Research Register) is a new initiative by NHS Research Scotland to establish a register of people aged sixteen or over willing to allow the coded data in their NHS computer records to be checked to see if they are suitable candidates for future health studies or clinical trials, and give permission for the use of any leftover blood from routine clinical tests to be used for anonymised genetic research.

Led by Professor Colin Palmer in the University of Dundee and launched as a national programme in August 2015, the register ( ) already includes more than 100,000 names, aiming for a total of 500,000 within the next five years. “The use of ‘spare’ blood is resourceful, unique and a ‘world first’, made possible only through close collaboration between the NHS and universities and industry,” said Professor Anna Dominiczak, Head of the College of Medical, Veterinary and Life Sciences at the University of Glasgow, when the project was launched.

Beggs also points out how important it is for everyone to register, even if perfectly healthy, because if they develop chronic diseases in the future, the ability to compare stored clinical samples pre- and post-diagnosis is a fantastic resource, and aligning this with their genetic profile could be invaluable in trying to understand the progression of many diseases. “This is an excellent example of Scotland as a biomedical resource,” says Beggs.

When Beggs gives presentations to the general public, people often come forward to share their personal experience of healthcare and express their hope that medical science will be able to deliver better outcomes for future generations, by using their personal records. Other countries have had problems convincing their own populations that the research will protect the confidentiality of personal data, but Scotland seems to have escaped this thanks to good communications and the ongoing efforts to build trust with the general public.

The willingness of people to participate in cutting-edge genetic research is not enough on its own to revolutionise healthcare, however. “In Scotland, it is relatively easy to engage with a national patient cohort,” says Beggs. “This is a huge advantage for stratified medicine, but we also need, and have access to, the world-class researchers, industrial partners and government backing to make it all work.”

Industry backing

As well as four of Scotland's leading universities and health boards (Aberdeen, Edinburgh, Dundee and Glasgow), SMS-IC has the backing of two major industrial partners: Aridhia Informatics and ThermoFisher Scientific.

Aridhia is one of Scotland's most successful high-technology companies, using biomedical informatics and analytics to support the management of chronic diseases, precision medicine and biomedical research. The company's main contribution, says Beggs, is the value of its powerful technology platform, which makes it possible for multiple partners to work together, in different countries, sharing huge amounts of data – what Beggs describes as “distributed collaboration.” Ownership of data is clearly defined, and Aridhia’s involvement makes sure the data is secure, appropriately governed and professionally managed – making it attractive to commercial users in Scotland and beyond. SMEs, universities and health boards will soon be able to use the sequencing and data management capabilities available at SMS-IC, on a fee-for-service basis, for their own projects.

ThermoFisher Scientific is a US-based world leader in developing tools for genetic research, with revenues of $17 billion and approximately 50,000 employees in 50 countries. Its Enterprise Solutions Group is working very closely with SMS-IC, as well as with similar initiatives in the US and Saudi Arabia (where diabetes is an increasingly worrying problem), providing expertise as well as its next-generation Ion-Torrent sequencing technology, in the quest for future breakthroughs in pharmacogenomics and the understanding of disease.

Instead of partnering with industry right from the start, the SMS-IC could have gone down a completely different route, and embedded itself within a university research lab. In the long run, this might have led to very similar results, but Beggs believes that industry driving the project is a win–win solution for all. The industry partners have guided the SMS-IC through the early technical stages, and provide what Beggs describes as “resident experts” – an invaluable resource in such a new science.

Exponential progress

As Chief Executive of SMS-IC, Beggs heads an organisation which is tapping this industry knowledge at the same time as coordinating cutting-edge projects with the country's academic research base, but like most people in the sector, he is also learning as he goes – even though he’s spent more than 25 years in the pharmaceutical and life sciences industry, focusing on early drug discovery. Genetic research has advanced at an incredible rate over the last few decades. Beggs jokes that a molecular biology PhD that used to take three years to sequence a single gene could now be completed in a couple of days, largely thanks to rapid progress in next-generation sequencing capabilities. Not so long ago, to sequence just a single gene would be a big achievement, but the SMS-IC now has eight sequencing platforms that can each sequence all 25,000 genes in the human genome overnight, for less than £2,000, bringing it much closer to the budgets of health boards or drug companies.

Current projects

Since setting up two years ago, the SMS-IC has launched a number of cutting-edge projects, including new research into ovarian and oesophageal cancer, rheumatoid arthritis, irritable bowel disease (IBD) and chronic obstructive pulmonary disease (COPD). In all these projects, ThermoFisher's Ion-Torrent platforms will be used for the genetic sequencing and the high-capacity data centre at SMS-IC will process the data (bio-informatic analysis).

High-grade serious ovarian cancer (HGSOC) is the fifth most common cancer, and the SMS-IC study led by Professor Charlie Gourley at the University of Edinburgh focuses on understanding if we can extend the use of novel anti-cancer drugs to a wider group of HGSOC patients – currently the drugs are only prescribed for patients with genetic mutations in their germline DNA (if the mutation is not present, the drug is ineffective), or about 15% of all patients. The study will try to identify similar mutations in the patients’ tumour tissue, and it is hoped that an additional 35% of patients may benefit. The project will involve clinicians from NHS Lothian, NHS Greater Glasgow and NHS Tayside, as well as academic teams from Edinburgh and Glasgow.

Oesophageal cancer (OC) is a highly aggressive form of cancer – following surgery and/or chemotherapy, the median survival rate is only ten months. A recent study found that about 10% of patients responded well to a new treatment called Gefitinib, and there were few side effects. The new biological drug is very expensive, however, for use with all patients, and it's hard to predict which patients will respond. The SMS-IC OC project, led by Professors Zofia Miedzybrodzka and Russell Petty at Aberdeen University and NHS Tayside, is trying to identify a genetic signature for Gefitinib response in tumour samples. If successful, the project will lead to the development of a test for clinicians to predict individual response, and pave the way for further trials of Gefitinib, as well as other new drugs. After sequencing and data analysis, the genetic findings will then be validated using diagnostic quality assays in the University of Aberdeen/NHS Grampian genetics laboratory.

There are approximately 400,000 new cases of rheumatoid arthritis (RA) in Europe and the US each year, and the direct cost is £11.6 billion per annum in Europe alone, plus indirect costs of about £14.1 billion. The most common drug used to treat RA is methotrexate (MTX), but 60% of patients either do not respond or show toxic effects, leading to the use of other more expensive biological therapies – and many years of drug escalation accompanied by worsening of the patient’s condition. The SMS-IC study, led by Professor Iain McInnes at Glasgow University, focuses on trying to identify a genetic signature in RA patients that can predict which patients will respond to MTX. If successful, it will improve prescription of drugs, and help to identify which patients may benefit more from biological therapy. The project is funded by Pfizer and the Chief Scientist’s Office, analysing data from RA patients across Scotland, including 21 RA clinics in ten NHS health boards, plus clinicians from NHS Greater Glasgow and academic teams from Edinburgh and Glasgow.

The IBD/COPD Project is led by Biopta of Glasgow, which has been providing contract research services to the pharmaceutical industry since 2002 and is now a world leader in the use of fresh functional human tissues to better predict drug activity prior to clinical trials. The Project aims to help Biopta undertake early identification of patient variability through a pharmacogenomics strategy. Biopta has observed that in vitro responses to known drugs, using human tissue samples collected from patients with IBD or COPD, can vary quite significantly between patients. Currently, there is no explanation for this effect, but it appears similar to the differences in response observed in patients – for example, the recognised variation in effectiveness of bronchodilators prescribed for the treatment of asthma.

The Project (led by Dr David Bunton at Biopta) aims to better understand this behaviour by comparing the responses obtained in ex vivo human assay systems with the genotype of tissue donors. It will engage NHS Scotland’s bio-repository network and will demonstrate a close coupling of tissue access and functional bioassays in disease-relevant tissues. The objective is “to create a preclinical model to understand the genetic basis for variability to known drugs and to relate genomics to the variation in drug efficacy between patients.”  This will, for the first time, provide a means to better understand patient stratification at an early stage in drug development.

The story so far

As well as getting major projects off the ground, the SMS-IC has also won a string of awards, including a Life Sciences Award from Scottish Enterprise, and a Knowledge Exchange Award from Interface, for helping to position Scotland “as an ideal location to deliver the right treatment to the right patient at the right time through stratified medicine.” In addition, the MsC course in Stratified Medicine launched by the SMS-IC won a Higher Education Award from The Herald newspaper for “recruitment and industry engagement.” 

For Beggs, these are important achievements, but he also believes that the biggest achievement so far is bringing together ten different stakeholders, including four universities, two industry partners and NHS Scotland. “Most of the team were also new to the science involved,” says Beggs, “but now we’re fully functional and generating lots of useful data, taking advantage of our state-of-the-art supercomputer and genetic sequencing tools.”

Recruitment has also been challenging, says Beggs. There is not a long queue of experienced next-generation sequencing technicians ready to fill each position, but the industry partners have played an invaluable role, not just in terms of equipment but also training and advice. The SMS-IC has also been able to recruit many of its staff from SMEs and contract research organisations in Scotland's life sciences sector.

The academic programme is now underway, with several graduates already finding jobs with leading industry players. Beggs also talks about the “academic entrepreneurs” now emerging in Scotland, spotting opportunities at home and abroad for solutions such as medical decision-support tools. There is enormous potential for patentable, global solutions in pharmaceuticals and healthcare, and Beggs believes the SMS-IC can make it easier for companies in Scotland to engage with the world-class research base right on their doorstep, to translate their “nascent ideas” into marketable products.

Beggs wants the SMS-IC to be the “go-to” organisation in Scotland for biomedical research, attracting major industry players to Scotland as well as steering SMEs to international markets. The SMS-IC offers the kind of solution that appeals very strongly to the major players in the biomedical industry. “Large corporations are more interested in working with groupings of institutions at a regional or national scale rather than with a single university,” Beggs explains. “To be successful in this field, you need the big numbers of patients to deliver sufficient power to the studies.” 

The other “big numbers” which motivate Beggs are the increasing sums spent on healthcare, and inefficient use of resources. The NHS now spends £13.6 billion on drugs every year – 9.6% of total budget and almost 1% of GDP. It is also estimated that one third or even a half of most drugs prescribed don't work on subsets of the patients they're prescribed for, and this is an issue because we do not yet have the toolsets to evaluate which patients will, and which patients will not, respond to a particular drug.

“We need to find better solutions,” says Beggs. And the national patient cohort in Scotland could be a big part of the answer, by helping us to understand the progression of many diseases and advance pharmacogenomics – a science which could revolutionise healthcare.


Future MS

Multiple sclerosis (MS) – also known as “the Scottish disease” – is one of the biggest problems faced by neurologists because it is so hard to predict the progression of the disease for any newly-diagnosed patient. The individual may need a wheelchair within a few years, or may be more fortunate with only occasional relapses over many years, and this can be as much of a problem for personal planning as for the prescription of drugs.

As part of the SMS-IC project, being led by Professor Siddharthan Chandran and his team at the Anne Rowling Clinic in Edinburgh (, this nationwide project will recruit newly-diagnosed MS patients from all over Scotland (the target is 500 people) to correlate their genetic data with the progression of the disease over the next three years, combined with clinical examinations and MRI brain imaging.

According to Dr Mark Beggs, the Chief Executive of SMS-IC, genetics is only 30% “to blame” or predictive for the disease. Other factors include lifestyle and geography. By analysing MS patients’ DNA and RNA, together with a comprehensive assessment of patients’ clinical measures, they hope to develop a predictive toolset that helps neurologists predict which patients relapse and which go into remission. This could be a simple blood test which could greatly benefit patients, and save the NHS a lot of money by giving the expensive drugs to the people who most need them – treatment can cost £1 million per patient lifetime and some drugs can cost more than £50,000 for a six-month course of treatment.

In addition, this kind of project has the potential to offer pharmaceutical companies the ability to test their new drugs more precisely by recruiting well-defined patients into clinical trials. Patients recruited into FutureMS will, at the patients’ option, consent to be contacted by their clinicians for involvement in future clinical trials. It is hoped that well-focused clinical trials will result in better outcomes for both patients and the drug industry alike.


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"Stratified Medicine Scotland Innovation Centre (SMS-IC)". Science Scotland (Issue Nineteen)
Printed from on 06/07/20 11:05:00 AM

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