World of Genomics: Iceland

Known for volcanic landscapes, the northern lights, Nordic history and the filming of Game of Thrones, for the latest in our World of Genomics series we travel to Iceland. Having been established by Norsemen and Celts in 9 A.D., Iceland has a remarkably homogenous population that can trace its lineage back to just a few common ancestors. Iceland’s unique inhabitants have been the centre for world-leading, but not always uncontroversial, genomics research.

The population of Iceland

Iceland is a Nordic island country in the North Atlantic Ocean and the most sparsely populated country in Europe. The majority of the population live in the capital city, Reykjavik.

Iceland is the only part of the Mid-Atlantic Ridge that rises above sea level, and its central volcanic plateau is erupting almost constantly.

Historically, following a period of civil strife, Iceland acceded to Norwegian rule in the 13th century. It came under Danish rule in 1523, gained independence in 1918 and became a republic in 1944. Today, the island is governed by the Alþingi, one of the world’s oldest functioning legislative assemblies, and the supreme national parliament of Iceland.

According to the EUI Democracy Index, Iceland ranks high in democracy and equality, and ranks first on the Global Peace Index. The country has one of the lowest crime rates in the world and has no standing army. Iceland runs almost completely on renewable energy.

Geographic and demographic information

Summary statistics

• Land area: 103,000 km²
• Gross domestic product (GDP):
  • Total: $21.8 billion (2022 estimate).
  • Per capita: $72,903 (2022 estimate).

Population statistics

• Population size: 375.432 (2023).
• Birth rate: 11.5 per 1,000 people (2022).
• Death rate: 6.8 per 1,000 people (2022).
• Infant mortality rate: 1 deaths per 1,000 live births (2022).
• Average life expectancy: 83 years (2021).
  • Male: 82 years (2021).
  • Female: 85 years (2021).
• Ethnicity: Icelandic 81.3%, Polish 5.6%, Danish 1% and other 12.1% (2021).

Healthcare system

Iceland maintains a Nordic social welfare system that provides universal healthcare for its citizens. Universal healthcare was established in 1973 following establishment of the Health Care Act, and is largely paid for by taxes and some service fees. It is administrated by the Ministry of Health and a considerable portion of government spending is assigned to healthcare.

Most surgical procedures can be done in Iceland, but patients travel abroad for heart operations in infants, solid organ transplantation (other than living-related renal transplantation) and allogenic bone marrow transplantation. The national health system has a waiting list for surgery, but if waiting times exceed six months, patients may travel abroad for treatment at government expense.

Despite there being almost no private health insurance in Iceland, private hospitals and providers are starting to appear. Health tourism in Iceland is a growing industry, with “recovery villages” offering treatment and rehabilitation programmes in picturesque surroundings. The most provided services include dental treatment, hip and knee joint replacement surgeries, dermatological and psoriasis treatment. The increase in private providers has made health care provision more diverse and fragmented and has resulted in the need for regulation and contracting.

Universal Health Coverage is a score measured by the World Health Organisation monitoring to what extent all individuals and communities receive the health services they need without suffering financial hardship. In 2021, the Universal Health Coverage of Iceland was deemed to be 88, in comparison to the global score of 57. In 2021, Iceland’s healthcare system was ranked 8th in the world by health index score.

The healthcare system faces challenges involving the financial sustainability of the current system in the context of an ageing population and new public health challenges, such as obesity, alongside the growing burden of chronic diseases. Iceland has 17.2 nurses and 4.1 physicians per 1,000 people. The country however does not have its own specialist medical training system, so Icelandic doctors typically spend 8 or 10 years working abroad before returning to the country. 

Health priorities

IIn Iceland, the most widespread causes of death in 2020 were diseases of the circulatory system, neoplasms, diseases of the nervous system and the respiratory system. COVID has also become a significant cause of mortality, with 208,751 confirmed cases and 186 deaths as of July 2023.

Behavioural risk factors are implicated in more than one-third of all deaths in Iceland, with poor nutrition and growing obesity rates of particular concern. Public health interventions to reduce obesity have not yet demonstrated impact, according to the European Commission. In addition, mortality from Alzheimer’s disease is increasing.

Lung cancer is the most frequent cause of death by cancer, followed by colorectal cancer and prostate cancer. No national screening programme is yet in place for colorectal cancer. All women aged 40-69 years are offered screening for breast cancer every two years to improve early diagnosis, however only 55% of women in the at risk group followed this recommendation in 2016.

Alcohol and tobacco control policies have been effective in Iceland, with consumption levels among the lowest in Europe. According to the European Commission, Iceland spends the largest share of its health resources on inpatient and outpatient care, but little on preventative methods beyond drug and alcohol prevention interventions.

In 2019, vaccination rates in Iceland were among the lowest in EU countries and vaccination rates for children were below World Health Organisation recommendations. However, 79.2% of Icelanders are fully vaccinated against COVID-19, compared to the global rate of 61.5%

As of June 2022, Iceland had 193,987 confirmed COVID-19 cases and 153 confirmed COVID-19 deaths.

Genomic medicine capabilities and controversies

Iceland has a small population that is comparatively isolated with modest immigration – all factors that lead toward genetic homogeneity. Genealogical records in Iceland date back centuries, while the national electronic health records system allow comprehensive data linkage. 

Iceland’s newborn screening programme offers screening during all pregnancies and uptake is high. Icelandic pre-natal healthcare services provide information to parents and store the information indefinitely. For chromosomal disorders, such as Down’s syndrome, approximately 85% of women choose to have screening. On average, during the past ten years only 2-3 children have been born each year with Down’s syndrome, as Iceland has a high rate of terminating pregnancies diagnosed with chromosomal disorders. This has led to controversy and discussions regarding discrimination against persons with disabilities.

In 1998, Iceland passed the Health Sector Database Act (HSD), which allowed the Icelandic government to grant a license to a private company for the creation of a national biological database to store health information that could be used for research. Citizen health information was deemed a national resource to be controlled by the state and allocated to private industry for control and access. The Act was subject to controversy and started international discussions about the nature of informed consent and privacy.

deCODE, an Icelandic biopharmaceutical company, obtained this operating license in January 2000. By June 2001, roughly 7% of the population had opted out of the Health Sector Database and by 2002, the company was struggling with the Icelandic Data Protection Commission’s data protection requirements. In 2003, Iceland’s Supreme Court ruled in favour of a woman who challenged the inclusion of her late father’s medical records in the database. The decision effectively ended the Health Sector Database. deCODE instead gathered large datasets and health samples through traditional methods, directly from consenting volunteers, instead of the transfer of medical data from health institutions through the HSD Act; therefore, the data remains in the private realm.

deCODE did not build a national Health Sector Database that combined medical records, genealogical and genetic data. Instead, it curated all accessible genealogical information into a single digital database called Íslendingabók. Open to anyone with an Icelandic social security number, the database was popular among the public and scientists. By the mid-2000s, it was capturing more than 1,000 log-ins per day. In 2013, deCODE released an app letting users establish their relatedness to any other Icelander, which helps Icelanders avoid accidental incest with a warning alarm if they are closely related.

The issues of consent and privacy remain. deCODE reported that they can identify carriers of the BRAC2 gene in the 60,000 Icelanders whose DNA have been fully sequenced and could extrapolate this data to pinpoint other carriers. Since 2018, Icelandic regulators have denied the de-encryption of the data. To circumvent this decision, deCODE started a website where people can request to be notified if they were carriers of the BRAC2 gene.

Notable projects

• Genomic Portrait of a Nation: The largest ever set of human genomes from a single population, led by deCODE. By sequencing 1 in 100 Icelanders, published research has shed light on the Y-chromosome, Alzheimer’s disease and the role of knock-out genes.
• National Cancer Registry: Established in 1955, it is one of the oldest nationwide registries in the world. It registers all cancer in Iceland and leads on data processing and publishing statistics. It is a central bank for cancer research.  
• COVID-19 Response: deCODE collaborated with the National University Hospital of Iceland to track the health status of COVID-19 patients, sequence the genetic material of each viral isolate and screened the majority of the population.
• ÍslendingaApp: An Android app using the Íslendingabók database that informs people how related they are. It contains a feature called “incest spoiler” that warns users if they are closely related. 
• University of Iceland Science Park: Founded in 2004, the science park is owned by the university and aims to promote collaboration between companies, research institutes, universities and entrepreneurs.

Notable organisations and companies

• deCODE Genetics: Founded in 1996, deCODE is a world leading biopharmaceutical company focused on using population genetics to identify human genome variations. deCODE has identified key genetic risk factors for dozens of common diseases ranging from cardiovascular disease to cancer, Alzheimer’s to osteoporosis.
• Icelandic Cancer Society (ICS): Established in 1951, ICS is an umbrella organisation of 34 member associations co-ordinating research, public knowledge and running the National Cancer Registry.
• ORF Genetics: Established in 2001, ORF Genetics is a biotech company specialising in producing recombinant proteins, which are formed by introducing foreign genes into a cell. This is particularly beneficial for the vaccine and pharmaceutical industries.
• Alvotech: Founded in 2013, Alvotech is a biopharmaceutical company identifying and developing biosimilar candidates as treatment options.

Notable individuals

• Jórunn Erla Eyfjörð (1946-): Molecular biologist known for discovering an Icelandic mutation of BRACA2 in breast cancer and prostate cancer.
• Ágústa Guðmundsdóttir (1945-): Biochemist and molecular biologist. Founder of the biotechnology company Zymetech and her research has focused on the genetic analysis of microbial infections.
• Hákon Hákonarson (1960-): Genomics researcher and physician. Founder of the Centre for Applied Genomics in Philadelphia. His autism gene discovery project and precision-based therapy in rare lymphatic disorders research have been described as ground-breaking.
• Stefan Karlsson (1950-): Known for his contributions in gene therapy and hematopoietic stem cell biology, resulting in the first gene therapy for the treatment of Gaucher’s disease.
• Kari Stefansson (1949-): Founder of deCODE. His work focuses on how genomic diversity is generated and the discovery of variants impacting susceptibility to common diseases. This population approach has served as a model for national genome projects around the world and has contributed to the realisation of several aspects of precision medicine.
• Karl Tryggvason (1947-): A medical researcher and physician known for identifying and developing diagnostics for serious genetic diseases, including Alport syndrome and congenital muscular dystrophy.

The future genomics landscape

Accelerated by innovations in genetic technologies and by a bold entrepreneurial vision, Iceland’s genomic advances have transformed biomedical and genealogical information into a novel type of international commodity. Additionally, the innovations and controversies generated have helped trigger the progress of global norms governing the relationship between citizens, medical information, markets and the state. Iceland’s public-private partnership has become a common reference point for other major population genomics initiatives.

To date, deCODE has gathered genotypic and medical data from more than 160,000 volunteer participants, comprising well over half of the adult population. Current and ongoing research focuses include type 2 diabetes, rheumatoid arthritis and schizophrenia, as well as study of the genomic mechanisms for adverse drug reactions. deCODE is also conducting research on infection spread and response to inform vaccination strategies. deCODE continues to lead population data mining approaches to inform drug discovery and healthcare strategy.

The homogeneity of Iceland’s population makes it easier for researchers to isolate genes that trigger diseases, which is likely to keep Iceland at the forefront of gene discovery.

References

• Chadwick et al. The Icelandic database – do modern times need modern sagas? BMJ. 1999.
• European Commission. State of health in the EU: Iceland country health profile. European Commission. 2019.
• GBD 2015 Healthcare Access and Quality. Healthcare access and quality index based on mortality from causes amendable to personal health care in 195 countries and territories, 1990-2015. The Lancet. 2017.
• Greely. Iceland’s plan for genomics research: Facts and implications. Jurimetrics. 2000.
• Gudbjartsson et al. Large-scale whole-genome sequencing of the Icelandic population. Nature Genetics. 2015.
• Helgason et al. The Y-chromosome point mutation rate in humans. Nature. 2015.
• International Medical Tourism. Iceland. International Medical Tourism. 2022.
• Kirby. Iceland’s DNA: The world’s most precious genes? BBC News. 2014.
• Leavenworth. Iceland faces DNA dilemma: Whether to notify people carrying cancer genes. The Seattle Times. 2018.
• Loeber et al. Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010. International Journal of Neonatal Screening. 2021.
• Medical Futurist. The Nordic saga: Genomics and politics in Iceland. TMF. 2019.
• Palmer. Why Iceland is the world’s greatest genetics laboratory. Wired. 2015.
• Palsson et al. The Icelandic genome debate. Trends in Biotechnology. 2001.
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• Steinberg et al. Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease. Nature. 2015.
• Sulem et al. Identification of a large set of rare complete human knockouts. Nature. 2015.
• Warren-Gash. Sequencing the nation: Iceland’s genomic profile. PHG Foundation. 2015.
• Wicnickoff et al. Genome and nation: Iceland’s health sector database and its legacy. Innovations. 2006.