In this week’s World of Genomics, we’re braving the bad weather and taking a trip up north to Scotland. Famous for its lochs and glens, the poetry of Robert Burns and the (somewhat controversial) foodstuff known as haggis, there is certainly a lot to say about this small nation.
Scotland is the home of many great scientific achievements and inventions – the telephone, the television and the steam engine, to name a few. But is this scientific prowess reflected in the field of genomics?
Scotland is one of the four nations that make up the United Kingdom. Situated in the north of Great Britain, Scotland shares one land border with its southern neighbour, England. Surrounded by the North Sea and the Atlantic Ocean, Scotland’s mountainous mainland is complemented by almost 800 islands.
Scotland has been inhabited for over 12,000 years and gets its name from a group of 5th Century BC settlers from Scotia, a Celtic region of modern Ireland. These settlers brought with them the Gaelic language and many Celtic traditions, firmly influencing Scottish culture as we know it today.
In the early Middle Ages, Scotland was divided into three areas; the central Pictland, Dál Riata in the west and part of the Anglo-Saxon Kingdom of Northumbria in the south. Invasion by the Vikings in the 8th Century initiated a union between the Gaels of Dál Riata and the Pagan Picts, leading to the creation of the Kingdom of Scotland.
A dispute over succession following the death of the Scottish monarch in the 13th century led to conquest by neighbouring England. This triggered the famous Wars of Independence and saw the Crown passed between the Scottish House of Bruce and the English House of Balliol. The Scottish and English crowns were merged in 1603 following the accession of James VI, and the 1707 Act of Union united the nations as the Kingdom of Great Britain.
Scotland has seen significant immigration over the centuries, particularly from Ireland following the potato famine. By 1914 Scotland was home to 25,000 European immigrants – particularly from Italy, Russia and Poland. More recently, Scotland has welcomed thousands of refugees from war-torn countries. Around 3,000 Syrian individuals have sought asylum in the country and over 20,000 Ukrainians have settled in Scotland in the wake of the Russia-Ukraine conflict.
Geographic and Demographic Information:
- Land area: 77,933 km2
- Gross domestic product (GDP):
- Total: $205 billion (2020)
- Per capita: $37,460 (2020)
- Population size: 5.5 million (201)
- Birth rate: 8.6 per 1000 (2020)
- Death rate: 11.7 per 1000 (2020)
- Infant mortality rate: 3.9 in 1000 (2021)
- Average life expectancy: 78.7 (2021)
- Male: 76.6 (2021)
- Female: 80.8 (2021)
- Ethnicity: 96.0% White, 2.7% Asian, 0.7% Black, 0.2% Arab and 0.5% other.
Founded in 1948, a version of the United Kingdom’s National Health Service (NHS) operates in Scotland. However, as healthcare is a devolved matter, the Scottish Government is responsible for running the system and making health-related decisions. As in the rest of the UK, NHS Scotland is funded primarily through taxation and is free at the point of use for permanent residents. In 2016, almost £12 billion was spent on healthcare in Scotland, equating to nearly half of the Scottish Government’s budget.
Overall, the system has a generally good reputation. In 2018, the Scottish Government spent £2,368 per person on healthcare – slightly more than in England, Wales and Northern Ireland. Moreover, Scotland has the highest number of medical staff per person in the UK. Despite these positive attributes, the system has faced criticism for long wait times and a lack of provision for those living in rural communities. To combat the latter issue, the University of St Andrews and the University of Dundee now jointly host a graduate medical programme specifically aimed at recruiting doctors to these underserved areas.
In 2011, the Scottish Government followed in the footsteps of Wales and Northern Ireland, abolishing prescription charges after a period of steadily decreasing prices. This decision initially cost over £57 million. In addition, eye care is also mostly free in the country; all residents, at minimum, are entitled to an NHS-funded standard eye examination every two years. Dental care is also free of charge for those under the age of 26.
Despite the provision of free healthcare, around 8.5% of Scottish residents are believed to have private health insurance in some form. Common issues for which one may seek out private care include IVF and cosmetic surgeries. NHS Scotland will in certain circumstances refer individuals to a private clinic for further care, the most common instance of this being for MRI scans.
The most common causes of death in Scotland are cardiovascular diseases and cancer, specifically of the lung. However, the most recent data shows that COVID-19 was the second highest cause of death in 2021. Life expectancy in Scotland is now slowly decreasing, despite rising in the late 20th and early 21st centuries.
The Scottish Government has outlined a range of public health priorities to improve the wellbeing of the population. Among these is a push to reduce death and disease as a result of drug use – including alcohol. Scotland has a high number of drug-related deaths compared to other developed countries, and this number is steadily increasing. In fact, there were more than four times the number of drug-related deaths in 2021 compared to 2000. In response to this, a public health emergency has been declared. A national campaign to reduce the stigma around drug-use was launched in late 2021 with a view to encourage people to seek help, alongside a nationwide effort to educate people on the use of naloxone.
To reduce the impact of alcohol-related public health burden, the Scottish Government introduced Minimum Unit Pricing in 2018 to prevent the sale of cheap alcohol. This controversial new law faced criticism from the public due to the financial impact this may have on those already suffering from alcohol addiction. However, recent reports suggest that the law has been successful in reducing alcohol sales.
In 2021, around 30% of Scottish adults were obese, a slight increase on previous years. The Scottish Government has committed to cutting this number in half by 2030, starting primarily in childhood. Over £600,000 was put into various campaigns in 2020 to increase physical activity and improve the diets of young people in Scotland.
Mental health is another important health priority in Scotland. Significant disparities exist between mental health care in deprived and affluent areas. The ‘Good Mental Health For All’ initiative aims to enhance this aspect of the public’s wellbeing by improving emergency responses and ensuring access to mental health services, particularly for adolescents.
Genomic Medicine Capabilities
All pregnant individuals in Scotland are entitled to free pre-natal screening. This includes ultrasounds and blood tests to detect foetal abnormalities. For those who are believed to be at higher risk of giving birth to a child with a condition such as Down’s syndrome, the NHS will provide further non-invasive pre-natal testing. Diagnostic tests are also provided for those who may be at higher risk of a genetic condition such as sickle cell anaemia.
Every newborn child is entitled to genetic screening within five days of birth. This is typically carried out via the ‘blood spot test’ where the infant’s heel is pricked to produce a small amount of blood. In Scotland, nine conditions are tested for as standard, including cystic fibrosis, phenylketonuria and congenital hypothyroidism. Following a positive result, any follow-up care is also provided free-of-charge.
Cancer genetic testing can also be provided through the NHS, although this typically requires a referral following the diagnosis of a family member. Genetic testing is carried out through one of four regional centres in Glasgow, Edinburgh, Aberdeen and Dundee.
Genetic counselling services are available in Scotland, again organised via one of the regional centres. Referral to a genetic counselling clinic can be for a variety of reasons including family history of disease, pregnancy planning or identification of a disease-causing genetic variant. Genetic counsellors can train at the University of Glasgow (or indeed elsewhere in the UK or abroad) and must be registered with the Genetic Counsellor Registration Board following successful completion of a Master’s degree and two-year training post.
Dolly the Sheep: Scotland’s crowning genomics achievement, Dolly was the first animal to be cloned from an adult somatic cell. Born in 1996 at the University of Edinburgh’s Roslin Institute, Dolly’s birth was a milestone in stem cell research.
National Museums Scotland Biobank: Part of the Cryoarks initiative, the National Museums of Scotland Biobank contains genetic material from over 10,000 animal samples. The data is used for research and conservation purposes, with the Biobank working in close partnership with universities and zoos.
Generation Scotland: Generation Scotland is a research project consisting of over 24,000 volunteers from over 7,000 families. The data gathered during the project is available as part of a biobank that can also be accessed by external researchers. The project aims to investigate the health and wellbeing of both individuals and their families in a variety of contexts, including mental health and COVID-19 research. Alongside genetic information collected as part of the project, the study links individuals with their electronic health records for enhanced data collection.
Scottish Genomes Partnership: The Scottish Genomes Partnership was set up as part of Genomics England’s 100,000 Genomes Project. Using whole genome sequencing data from 1,000 Scottish residents with rare diseases, scientists have found a genetic diagnosis for almost a quarter of the volunteers. The data will be stored as part of the 100,000 Genomes Project for future use and the results will likely influence health policy in the coming years.
MRC Centre for Virus Research (CVR): Part of the University of Glasgow, the CVR carries out globally renowned research into viral infections. Most recently, the CVR was responsible for large-scale SARS-CoV-2 sequencing, leading the response in Scotland and playing a significant role in UK-wide COVID-19 research, including in the development of mRNA vaccines.
The Roslin Institute: The University of Edinburgh’s Roslin Institute was the birthplace and subsequent home of Dolly the Sheep. Whilst much of the institute’s world-leading genomics work is centred around animals, particularly in an agricultural setting, the impact of the research is felt far beyond this field. For example, scientists at the Roslin carry out extensive research into the development and prevention of zoonotic diseases.
Precision Medicine Scotland: The Precision Medicine Scotland Innovation Centre aims to build an ‘ecosystem’ of researchers, clinicians and innovators to improve the precision medicine field in Scotland. Precision Medicine Scotland is currently involved in projects investigating ovarian cancer, rheumatoid arthritis, multiple sclerosis and more.
Edinburgh Genomics: Based at the University of Edinburgh, Edinburgh Genomics provides sequencing facilities, bioinformatics support and training opportunities to researchers in the genomics field. Over 800 publications have credited the internationally renowned services provided by the centre.
Alexander Fleming: Scotland’s most well-known biologist, Sir Alexander Fleming is famed for his discovery of penicillin, the first effective antibiotic. Whilst many have heard the story of his famously dirty laboratory and ‘accidental’ discovery of the drug, Fleming was in fact a renowned researcher prior to this, having published work on antiseptics during World War I. He shared the 1945 Nobel Prize in Physiology or Medicine with Howard Florey and Ernst Boris Chain.
Anna Dominiczak: Dame Anna Dominiczak is a Polish-born researcher who has lived and worked in Scotland for over four decades. Her research focused primarily on cardiovascular medicine. Currently, she is Regius Professor of Medicine at the University of Glasgow – the first woman to ever hold this post. Dame Anna has played a huge role in driving forward the precision medicine field in Scotland.
Guido Pontecorvo: Guido Pontecorvo was an Italian-Scottish geneticist responsible for the discovery of non-sexual genetic recombination. He also performed pioneering work into evolutionary divergence in the model organism drosophila melanogaster. He later served as the first ever Chair of Genetics at the University of Glasgow.
Jonathon Berg: Jonathon Berg is a Senior Lecturer and Honorary Clinical Consultant at the University of Dundee. His research focuses on genetic risk factors for breast cancer. He also chaired Scotland’s Rare Diseases Implementation Board from 2021-2022
John Todd: John Todd is a Scottish-born researcher, currently Professor of Precision Medicine at the University of Oxford and director of the Wellcome Centre for Human Genomics. His research into the genetics underlying Type 1 Diabetes has earned him numerous accolades and awards, including Fellowship of the Royal Society.
Future Genomics Landscape
The future of genomic medicine in Scotland looks bright. Continued work using data from the Scottish Genomes Partnership and Generation Scotland should lead to better informed healthcare decisions and personalised therapies in the coming years.
The report ‘Informing the Future of Genomic Medicine in Scotland’ was published in 2019 by the Scottish Scientific Advisory Council. This report outlined the current state of genomic medicine in Scotland, summarised aims for the future and highlighted areas where further funding was required. Notably, the report discussed cancer genomics, newborn screening and a need for new training opportunities. Although the COVID-19 pandemic may have delayed some of these outcomes, the Scottish Government remains committed to achieving these goals.
The above report is complemented by the Rare Disease Action Plan, which was published in 2022. This plan outlines new strategies to improve the lives of more than 400,000 individuals living with rare diseases in Scotland through better diagnostics and treatments. This commitment to better infrastructure provides hope for those suffering from rare conditions.
Britannica. Scotland. Available at: https://www.britannica.com/place/Scotland
Wikipedia. Scotland. Available at: https://en.wikipedia.org/wiki/Scotland
Scotland.org. Healthcare in Scotland. Available at: https://www.scotland.org/live-in-scotland/healthcare#:~:text=Your%20Healthcare,spouse%20and%20your%20immediate%20family.
Scottish Government. Scotland’s Public Health Priorities. Available at: https://www.gov.scot/publications/scotlands-public-health-priorities/
John Gray Centre. A Brief History of Emigration & Immigration in Scotland: Research Guide 2. Available at: https://www.johngraycentre.org/about/archives/brief-history-emigration-immigration-scotland-research-guide-2/
NHS Scotland. Genetic and Molecular Pathology Laboratories. Available at: https://www.nss.nhs.scot/specialist-healthcare/specialist-services/genetic-and-molecular-pathology-laboratories/#:~:text=Genetic%20testing%20services%20are%20delivered,genetic%20testing%20service%20for%20Scotland.