World of Genomics: Finland

For the latest in our World of Genomics series, we travel to Finland, a country at the forefront of genomic research and technological advancements. The ‘Land of a Thousand Lakes’ is, as you guessed it, famous for its breath-taking lakes, as well as its Northern Light displays and snowy Lapland. Finland has also been repeatedly crowned the world’s happiest country. Some attribute this to the high-functioning Finnish society and the mutual trust that exists between citizens and the government. This reasoning also explains how Finland has come to have biobanks containing genetic samples from over 500,000 individuals. These genetic vaults facilitate a better understanding of hereditary disease and liberal laws on their collaborative use make Finland a hub for global genomic research.  

The population of Finland

Finland is a Nordic country situated in Northern Europe that shares borders with Sweden, Norway and Russia. Helsinki is Finland’s capital and largest city and is home to 1/3 of the Finnish population.  

As one of the world’s Northernmost countries, Finland’s landscapes were carved by the Ice Age. The eroding effect of glaciers left the landscape mostly flat with morainic depositions and thousands of lakes – 187,888 to be precise.  

The Finnish population is considered a homogenous isolate, due to its homogeneity and reduced diversity, making it the target of extensive gene mapping studies. However, clear genetic differences exist between the east and west of Finland, particularly in the male-mediated Y chromosome. These differences have been attributed to the founder effect; a term used to describe a loss of genetic variation that occurs when a new, smaller population is established from a much larger population.  

The initial founder effects that helped carve the Finnish population occurred 4,000 and 2,000 years ago and are referred to as ‘the dual theory of inhabitation’. The first involved a migratory wave of eastern Uralic speakers. The second and more recent event comprised Indo-European speakers and is said to have had a dramatic influence on today’s Finnish gene pool.  

Internal migration also occurred during the 16th century from a small area in the south-east to the middle, western and finally northern and eastern parts of the country. Two key reasons exist for this migration: (1) pressure from the growing population size to cultivate more land and (2) to avoid levels of high taxation established by the Swedish Crown. As the settlers continued their migration further north, the Saami native minority (Lapps) was forced to shift towards the Arctic Ocean. These patterns of internal migration are responsible for the regional sub-isolates that exist today.  

Geographic and demographic information

Summary statistics

• Land area: 338,511 km²
• Gross domestic product (GDP):
  • Total: 267.6 billion USD
  • Per capita: 48,690 USD

Population statistics:

• Population size: In 2021, the total population of Finland was estimated to be 5,541,696. 
• Birth rate: In 2020, the crude birth rate was 8 per 1,000 people. 
• Death rate: In 2020, the crude death rate was 10 per 1,000 people. 
• Infant mortality rate: In 2020, the crude infant mortality rate was 2 deaths per 1,000 live births. 
• Average life expectancy: In 2020, the average life expectancy was 82 years. 
• Ethnicity: In 2020, the ethnicity breakdown of Finland was 86.9% Finnish, 5.2% Swedish, 1.5% Russian and 6.4% other (according to mother languages). 

Healthcare system

Often named the happiest country in the world, Finland offers a welfare system that provides public healthcare to all its residents. Every citizen receives a Kela card, which is used by the Finns to access National Health Insurance and discounts on buying medicines. Unlike other Nordic countries, the Finnish healthcare system is decentralised and focuses heavily on local care distributed through municipalities, with the aim of improving healthcare for each individual citizen.  

Finland’s healthcare system has been praised for its accessibility for decades. In 2020 Finland achieved a score of 87, compared to an average global score of 57, in an assessment of Universal Health Coverage by the World Health Organisation (monitoring to what extent all individuals and communities receive the health services they need without suffering financial hardship). 

Although ease of access to healthcare in Finland is considered excellent, the nature of public healthcare means wait times for secondary medical care are lengthy. Furthermore, Finland is ranked among the five fastest ageing populations in the world, partly owing to the baby boom following the Lapland War. This change in population demographics will put a burden on healthcare, especially as neurodegenerative diseases, such as Alzheimer’s disease, become increasingly prevalent. Researchers expect the share of individuals aged 65 years and older to surge to 28% by 2050 which will undoubtably put strain on care providers and raise important questions about quality of life.  

The private health sector in Finland remains relatively small, but it does cater to the growing health tourism industry. Health visitors are primarily attracted by the diagnostic services, dental care, fertility treatment and perinatal care. Finland is also attractive for oncology treatments, which rank as some of the best in the world. 

Health Priorities

In 2020, 33% of deaths within the Finnish population were caused by diseases of the circulatory system, with other major causes including neoplasms and Alzheimer’s disease. Perhaps unsurprisingly, the nature of Finland’s Nordic climate makes accidents the fourth leading cause of death.  

‘Finnish Disease Heritage’ (FDH) is a term which encapsulates 36 rare hereditary diseases which are significantly more common in people with native ancestry from Finland, Sweden and Russia. Most of the gene defects associated with FDH are autosomal recessive and roughly one in 500 children born is affected. The prevalence of FDH is increased in the eastern and northern regions of Finland and is attributed to a population bottleneck within ancestors of modern Finns, believed to have started 4,000 years ago when agricultural populations arrived in Finland. Thanks to the excellent research in Finland, the molecular genetics of most of the diseases have been determined, so genetic testing, prenatal testing and counselling are readily available.  

Finland’s plan to become ‘smoke-free’ by 2040 is under way and aims to reduce the behavioural and societal risks of smoking. Strategies to achieve this goal include a gradual increase in taxes on tobacco products and the removal of branding. Since 2011, reforms have also been put in place to limit alcohol consumption, including a state monopoly on alcohol sales, which caps the maximum alcohol-per-volume that stores can sell at 5.5%.  

Throughout the COVID-19 pandemic, Finland has been praised for its response. Their success has been partially attributed to their location on the periphery of Europe and their delay in being affected by the virus. Experts have also suggested that Finland’s response was so effective because of the trust between citizens and the government, reinforcing the high functionality of Finnish society. It is also important to note the distinction in legislation between Finland and other European countries. Following the Winter War in 1939-1940 against the Soviet Union, a law exists on preparedness during times of emergency, which explicitly mentions pandemics.  

Genomic medicine capabilities

Genomic data is at the forefront of Finland’s healthcare and allows for effective genetic screening, diagnosis and personalised treatment. The National Genome Strategy was established to ensure that all genomic data is effectively used in healthcare by 2020, with an emphasis on health and wellbeing.  

The Finnish population is one of the most genetically studied in the world. Furthermore, Finland hosts several world-class centres of research that pioneer technology innovation, including the Centre of Excellence in Complex Disease Genetics (CoECDG). During the COVID-19 pandemic, the CoECDG was responsible for a study which identified sleep apnoea as a risk factor for severe COVID-19.   

In 2017, the FinnGen Project was launched to collect biological samples over the course of six years from 500,000 participants across Finland with the goal of improving health. It is a public-private partnership between several organisations including universities, pharmaceutical companies, the Finnish Red Cross Blood Service and the National Institute for Health and Welfare. Since its creation, this project has become a springboard for better diagnostics and personalised therapies.  

Results from FinnGen research have been integrated in the Open Targets Genetic portal, an open source that aggregates functional genomics data and genome wide association studies. The portal facilitates the identification of potential drug targets and the interpretation of emerging genetic discoveries by highlighting variant-centric statistical evidence.  

After recognition of the first diseases that fall under Finish Disease Heritage, interest in medical genetics skyrocketed. In 1952, small-scale genetic counselling became available in Helsinki through a partnership with the Department of Genetics at the University of Helsinki and the Family Federation of Finland (FFF) or Väestöliitto. This operation undoubtably spearheaded Finland’s movement to becoming one of the leaders in genetic testing. 

From the inception of the COVID-19 pandemic, coronavirus sequencing was conducted at the University of Helsinki’s Department of Virology. Up to 1,000 SARS-CoV-2 sequences were generated on a weekly basis and results were made available on open-source databases to facilitate collaboration with other researchers and health organisations.  

Vaccination coverage in Finland is high and coronavirus vaccines are no exception. As of August 2022, 235 doses of COVID-19 vaccines per 100 people have been administered, compared to the global average of 158 doses per 100 people. However, Finland, alongside three other Nordic countries, decided to stop use of the Moderna vaccine based on an unpublished study from Sweden’s Public Health Agency that raised concerns of myocarditis and pericarditis.  

Notable projects

• The FinnGen Study: A project centred around the collaborative use of genetic samples collected by a nationwide network of Finnish biobanks from over 500,000 participants. 
• OMAOLO: A web-based COVID-19 symptom self-assessment tool developed to increase testing and reduce transmission rates during the COVID-19 pandemic.  
• The Act on the Secondary Use of Health and Social Data (2019) and Biobank Law (2012): Legislation that focus on data privacy and security to elevate innovation, research and investment opportunities in the health care industry, primarily relating to disease prevention and personalised medicine.  
• The National Genome Strategy: Established in 2014, this initiative set key parameters to ensure that genomic data would be effectively used in healthcare by 2020. 

Notable organisations and companies

• Blueprint Genetics: A biotech company that develops genetic tests to improve diagnostics of a wide range of genetic conditions.  
• TILT Biotherapeutics: Founded in 2013, TILT Biotherapeutics is producing an immunotherapy tool to improve the efficacy of cancer treatments. The therapy involves oncolytic viruses that selectively infect tumour cells and stimulate them to produce cytokines.  
• Väestöliitto: Also known as the Family Federation of Finland, Väestöliitto aims to improve people’s quality of life and connection between people.  
• DelSiTech: A biotech company that aims to improve the efficacy of drugs while simultaneously reducing their side effects. By encapsulating the active compound of a drug in a silica matrix, they can control its uptake in a desired time range from anywhere between a day to a year.  

Notable individuals

• Lenna Peltonen (1952-2010): As one of the world’s leading medical geneticists, Peltonen discovered the genetic sources of several Finnish Heritage diseases, including multiple sclerosis, osteoarthritis and schizophrenia.  

• Reijo Norio (1934-): A Finnish physician and professor of genetic medicine and paediatrics. Some of Norio’s most notable work includes reporting the autosomal recessive inheritance of congestal nephrosis, a paediatric kidney disease, as well as gene mapping of other diseases of Finnish Disease Heritage.  
• Samuli Ripatti (1962-): Ripatti is a Professor of Biometry at the University of Helsinki and Broad Institute of MIT and Harvard. His group are uncovering new genetic loci that contribute to breast cancer, asthma and other diseases to facilitate new treatments and diagnostic markers.   
• Juha Kere (1958): Kere is now a Professor of Molecular Genetics at the Karolinska Institute, and was previously founding director of the Finnish Genome Centre. He has published over 400 scientific articles and supervised 35 doctoral theses throughout Finland and Sweden.  
• Albert de la Chapelle (1933-2020): de la Chapelle was a pioneering Finnish geneticist and long-term head of Finland’s first Department of Medical Genetics at the University of Helsinki – some of his most important work contributed to the elucidation of genetic Lynch syndrome and colorectal cancer.  
• Jaakko Tuomilehto (1946-): Tuomilehto is world-renowned for his research on life-style changes to prevent type 2 diabetes and produced the most cited research publication in Finland. 

The future genomics landscape

The rest of the world can look to Finland as a role model for many facets of life, including its innovative genomic research. Due to Finland’s unique biobank law that makes its large, interconnected databases available to other researchers, the FinnGen study has become a powerful tool that will no doubt fuel further scientific studies. Combining information such as medication use and diagnostic timelines will improve the trajectory of genetic diseases and help identify agents that exacerbate their progression. Data mining of Finland’s genomic vaults using tools such as AI also offers tremendous opportunity.  

Professor Mark Daly, Director of the Institute of Molecular Medicine Finland, believes that by the mid-2020s, concrete solutions will exist to enable early detection and intervention for many diseases. It is expected that Finnish people will benefit first from the medical benefits of the FinnGen study in the clinical setting, and that this knowledge will subsequently trickle into other countries. This can be viewed as a ‘thank you’ to the Finns for being pro-science and trusting of the authorities, which undoubtably had a role to play in the scale of this project. Hopefully, these attributes can be adopted by other countries to remove barriers to future biobanks and other genomic research ventures.  

References

• Kallinen et al. Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. Prenatal Diagnosis. 2001. 
• Karlsson et al. The Road to the Alcohol Act 2018 in Finland: A conflict between public health objectives and neoliberal goals. Health Policy. 2020. 
• Koskull & Salonen. Genetic Services in Finland. European Journal of Human Genetics. 1997. 
• Locke et al. Exome sequencing of Finnish isolates enhances rare-variant association power. Nature. 2019. 
• Palo et al. Genetic markers and population history: Finland revised. European Journal of Human Genetics. 2009. 
• Peltonen et al. Molecular Genetics the Finnish Disease Heritage. Human Molecular Genetics. 1999. 
• Strausz et al. Sleep apnoea is a risk factor for severe COVID-19. BMJ Open Respiratory Research. 2021.