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World of Genomics: Denmark

Lauren Robertson 4 October 2022

Beneath the Aurora Borealis lies Denmark (or Danmark in Danish), a picturesque land once home to the mighty Vikings. This small kingdom towards the north-west of Europe is known for its famous “smørrebrød” open sandwiches, its long reigning monarchy, and beautiful landscapes. It is also recognised as the happiest country in the world; possibly related to the Danish love of all things “hygge” (a cosy feeling of togetherness) or perhaps the fact that they invented Lego.

The population of Denmark

Despite having the oldest continuously used flag in the world, one of the most-searched phrases in relation to this Scandinavian nation is: “Where is Denmark?” Let us offer some answers. Denmark only has one continental border – the north of Germany. The remaining borders are rich with white sandy beaches, reaching out into the Baltic and North seas. Intriguingly, there are no mountains in Denmark, with much of the country lying not more than 30 metres above sea level – the highest point is only 173 metres. This may explain the Danish affinity for cycling. The kingdom is comprised of over 400 islands, with most being uninhabited. Notably, the Faroe Islands and Greenland are territories of Denmark, not independent countries. However, both are self-governing, with their own political parties and parliaments.

Figure 1 ¦ Map of Denmark

It is believed that the first Danish settlers moved in around 10,000 BC. Originally part of Scandinavia with Norway and Finland, the people became known as the Vikings around 1000 AD. Between the bronze age and the iron age, political and cultural changes began to occur. Instead of invading and conquering nearby land to stake claim, political alliances and negotiations took place. This modernisation of society brought about the end of the Viking era, leaving the once powerful warriors in myths and legends. After further political tensions, Denmark become an independent state in 1814. In more recent history, Denmark joined the European Union (EU) in 1973.

Geographic and demographic information

Summary statistics

  • Land area: 2021 estimate: 43,094 sq km
  • Gross domestic product (GDP):
    • Total: 2020 estimate: 397.1 billion USD
    • Per capita: 67,803 USD

Population statistics

  • Population size: 2021 estimate: 5,856,733
  • Birth rate: 2020 estimate: 10 per 1000 people
  • Death rate: 2020 estimate: 9 per 1000 people
  • Infant mortality rate: 2020 estimate: 27 per 1000 people
  • Life expectancy: 2020 estimate: 82 years
    • Male 2020 estimate: 80 years
    • Female 2020 estimate: 84 years
  • Ethnicities: 92% ethnic Danes, 4% other EU nations, with a small percentage of the population being from African, Asian and North American descent.

Healthcare system

In the 18th century, there was a large shift towards improving healthcare systems, with the first teaching hospital, the Frederiks Hospital in Copenhagen, established in 1757. Healthcare insurance was later implemented in the 19th century, and the Danish healthcare system has enjoyed an excellent reputation ever since.

The system is organized according to 3 administrative levels: state, regional and local. The responsibility of primary and secondary care is with the regions and municipalities. The system first became decentralized in the 1970’s; however, the healthcare system has been moving towards a more coordinated approach in recent years. Income tax is used to fund the healthcare system, allowing citizens to have access to free healthcare. In fact, Denmark has the highest amount of funding for its healthcare proportionally compared to other EU countries.

No healthcare system is without its challenges. Denmark has slightly more doctors and nurses per population compared with the EU average, but the country faces issues around GP shortages. Particularly in more rural areas of the country, there are simply not enough health care practitioners available for people to access. Denmark has an ever-growing elderly population, resulting in a greater quantity of health complaints and chronic illnesses. To combat these issues, the government has been focusing on trying to make healthcare professions more appealing to people, such as providing greater personal development opportunities and benefits. Another challenge is the fact that GP’s run their own practise and are private healthcare providers. This means that, unlike other European countries where GP surgeries are part of a large collective, the Danish GPs are completely independent from one another. Issues regarding consistency and quality of care can be a result of such independence.   

Health priorities

The most common causes of death in Denmark are chronic obstructive pulmonary disease (COPD), lung cancer, and ischaemic heart disease. Denmark has a high percentage of smokers- 24% of the Danish population smoke, compared to the EU average of 17%. However, it is important to note that COPD and lung cancer are also among the most common causes of death within the EU, supporting the fact that smoking is not the only cause of these morbidities.

Denmark was one of only two EU countries to see an increase in life expectancy in 2020, despite the impact of the pandemic. This is thanks to the swift and efficient response to COVID-19 and the relatively low number of deaths seen. In particular, better containment measures during the first wave, a responsive and flexible health system, and widespread testing all helped in this regard.

Mental health problems are prevalent throughout the EU, with on average a quarter of the population of many European countries reporting mental health issues. Denmark is no exception. A study conducted in 2017 found that roughly 25% of adolescents in Denmark experienced significant stress. In comparison to the UK where it is reported around 7% of adolescents experience stress, this highlights that further support for young people in Denmark is needed. Denmark has set out a project called ‘The 10-year Psychiatry Plan’, which has the aim of setting up long term directions for mental health care, with special focus on the prevention of mental health issues.

Obesity is also an increasing concern for Denmark. With 16% of the population now being considered clinically obese, this is in line with the EU average. Studies show that although Danish adults are typically exercising the recommended amount, they are not consuming enough healthy food. Contrastingly, adolescents in Denmark are consuming more fruit and vegetables than ever before, but they are lacking physical activity.

Genomic medicine capabilities

Denmark has relatively liberal laws when it comes to genomic medicine compared to other European countries. Laboratories practising genetic testing do not need special accreditation or licenses to carry out this work. In fact, there is no system for accreditation or licensing of genetic testing laboratories established in Denmark. The rules are stricter when it comes to biobanks containing genetic material. These must be registered with the appropriate authorities, and stringent standards must be upkept.

New-born genetic screening is widely available in Denmark. First-tier new-born screening tends to be biochemical marker analysis, with genetic testing being a second-tier method of screening. However, in cases such as spinal muscular dystrophy or severe combined immunodeficiency, genetic testing is considered as a first-tier method of screening, along with other diseases which do not have an easily identifiable biomarker. Cystic Fibrosis (CF), a life shortening genetic condition, has been screened in new-borns in Denmark since 2016. The test screens for the F508del mutation, which is known to be a cause of CF. After 2 years of the implementation of the programme, it was found that the screening had a sensitivity score of 91.7%. This programme is a good example of the successful implementation of genetic diagnostic testing within the Danish healthcare system.

Along with new-born genetic screenings, genetic testing is now being rolled out in Denmark, offering tens of thousands of Danes the chance to learn the secrets of their DNA. Many hospital departments already use or are planning to implement genome sequencing into medical specialities. It is estimated that around 70 million euro has been invested in research infrastructure related to personalised medicine, including biobanks, sequencing equipment, and supercomputers for processing large volumes of genetic data.

Funded by a generous donation from the Novo Nordisk Foundation, the Danish National Centre began carrying out an ambitious project in July 2021 to genetically test 60,000 Danish citizens. The aim of the project is to help gain a better understanding of diseases, and result in more accurate diagnoses and treatments. The testing will be preliminarily offered to children and young people with rare genetic diseases, with it later being offered to other groups, such as adults with rare diseases.  

In 2018, it was estimated that Denmark had approximately 20 genetic counsellors, with no specific training programmes. While this total is significantly lower than other EU countries, (e.g., France was estimated to have over 175 genetic counsellors), it is important to remember that Denmark is one of the smallest nations within the EU, both geographically and in terms of population. The Netherlands has a similar land area to Denmark and (according to the same study from 2018) has an estimated 55 genetic counsellors. However, the Netherlands has a population that is over 10 million people greater than Denmark. In terms of European countries, Denmark is only beaten by the UK and Norway for the number of genetic counsellors per million population.

Notable projects

  • Danish Strategy for personalised medicine: This project aims to bring the benefits of genomic medicine to the Danish population (particularly those with rare diseases) faster. Initiated from 2017-2020, and now updated for 2021-2022, the strategy included the formation of a National Genome Centre, applying new technologies to patient care, strengthening the ethical and legal aspects related to the use of genetic information, and establishing a joint governance structure to strengthen collaborations across the country. Around 13.5 million euro has been dedicated to this project from the National Budget. The short-term goals are initial use of the infrastructure for whole genome sequencing, researching infrastructure for personalised medicine, and the inclusion of several data sources.
  • Denmark DNA Project: A heritage research project with the aim of understanding genetic differences of descendants of different settlements within Denmark.
  • Danish Demes Regional DNA Project: This project aims to connect relatives who were unaware of their relationship due to the Anglicization of their surname spelling, or a complete surname change.

Notable organisations and companies

  • Danish Society for Medical Genetics: Founded in 1978, the society Danish Society for Medical Genetics is a scientific society for everyone working within the medical genetics field, including academics, clinicians, and genomic counsellors.
  • Danish National Biobank: The Danish National Biobank stores more than 12 million biological samples, which can be used by researchers in their studies. The biobank is based on the samples submitted to Statens Serum Institut, in the form of project samples either from various external or internal research projects or in the form of routine tests (performed as part of national screening programmes).
  • Danish National Genome Centre: Established in 2019, the centre is a government agency with the aim of laying the foundation for the development of better diagnostics and more targeted treatments for patients using whole-genome sequencing. The aim is that by 2021, 60,000 Danish patients will have had their whole genome sequenced.
  • Rigshospitalet Specialised Hospital: The Rigshospitalet is a leading hospital in Copenhagen, with a highly specialised clinical genetics team. The team specifically focuses on diagnosis, management, and counselling for patients with genetic conditions such as chromosomal anomalies and congenital disorders.
  • Aarhus University Hospital: The hospital is home to a great number of genetic research experts and impressive studies. Notably, Aarhus University Hospital has recently completed their first analyses of the whole human genome, in collaboration with the Danish National Genome Centre.
  • The Clinical Genome Center: A research support and core facility for global genomic analysis and bioinformatics, hosted by the Department of Clinical Genetics, Odense University Hospital. The support is offered through senior researchers who are able to act as advisors on genomics projects.
  • The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease: This is a close collaboration between the Broad Institute and Danish researchers investigating the genetics and gene regulation of common complex diseases like obesity and diabetes. Generates datasets to help understand how human genetic variants affect risk for common complex diseases.

Notable individuals

  • Bettina Lundgren– CEO of Danish National Genome Centre: Dr Lundgren is a trained clinician with a special focus on microbiology. She was appointed CEO of the Danish National Genome Centre in 2019. Prior to this appointment, Lundgren managed over 1600 members of staff at the Diagnostic Center Copenhagen University Hospital, facilitating ground-breaking research to improve the healthcare of the Danish population. Her career spans 19 years of management experiences in the Danish healthcare system, has contributed to more than 70 scientific publications, and has taken on a number of positions outside of Denmark – including the US National institutes of Health.
  • Mads Krogsgaard Thomsen – CEO of Novo Nordisk Foundation, an international enterprise foundation focused on providing treatment for chronic diseases such as diabetes. One of its key focuses is in the area of genome editing and gene therapy for chronic disease.
  • Eske Willerslev – a world famous adventurer and evolutionary geneticist who currently holds the Prince Philip Professorship in Ecology and Evolution at the University of Cambridge. He is Director of the University of Copenhagen’s Centre of Excellence GeoGenetics. He is one of only a very few scientists who have managed to be accepted into several indigenous cultures, including adoption into the Native American Crow-tribe. His standout scientific achievements are probably establishing ice core genetics and discovering deep DNA drilling. In 2010, he and his team sequenced the genome of a 4,00-year-old man from Greenland – the first ancient human genome to be sequenced.
  • Wilhelm Johannsen – a pharmacists, botanist, plant physiologist, and geneticist best known for coining the term gene, phenotype, and genotype. He is also noted for his “pure line” experiments which showed that variations in genotype can arise spontaneously via mutations (which are then subjected to natural selection).
  • Rasmus Nielsen – a professor at the University of Berkeley, California, Nielsen has made a number of contributions to statistical and population genetics – specifically methods for detecting natural selection, describing population genetic variation, inferring demography, and methods for association mapping. Many of his methods are widely used by other researchers in the field, and his current focus is on the statistical analysis of NGS data.
  • Jan Mohr – a Norwegian-Danish physician and geneticist known for discovering the first cases of autosomal genetic linkage in humans – the first steps to mapping the human genome. In 1966 he was electing the founding chairman of the European Society of Human Genetics.
  • Hans Eiberg – a geneticist known for discovering the genetic mutation that causes blue eyes. Together with Jan Mohr, he established the Copenhagen Family Bank in 1972 – a database of DNA samples from over 1000 Danish families to help study familial diseases.

The future genomics landscape

In 2020, the Danish National Genome Centre in collaboration with the Danish Ministry of Health announced their strategy for personalised medicine. The strategy has six core principles; (1) the field of personalised medicine must focus on patients, (2) confidentiality, (3) the use of personalised medicine must be evidence based and economically sustainable, (4) it must be rooted in the public sector, (5) strict standards must be met, and data must be shared securely and (6) research projects must be nationwide. The Danish National Genome Centre hopes that through completing this project, they will gain enough genetic data to truly utilise genomics in personalised medicine, helping to treat cancer, rare diseases, and psychiatric disorders.

Further to this, in 2021, Denmark signed the declaration of cooperation that aims to link genomic health data throughout the EU and achieve access to at least 1 million sequenced genomes by 2022. The “1+ million genomes” initiative already involves 24 countries across the EU and has the potential to improve disease prevention, allow for personalised treatment, and support ground-breaking research in the genomics space. In April 2022, Genomic Medicine Sweden and the Danish National Genome Center signed an agreement with the aim of advancing genomics and precision medicine and its implementation in healthcare. The partnership should help tackle some of the challenges around delivering precision medicine and see access to genomic-based precision medicine at a national level.

References

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