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World of Genomics: Germany

In this week’s World of Genomics entry, we explore Deutschland, also known more commonly as Germany. Despite the strength of basic science within Germany, it got off to a late start in genetics-related research. This is thought to be the result of public antagonism stemming from Germany’s Nazi past. However, since then, Germany has been a key figure in advancing science and contributing to successes within medical genetics. Germany is also home to some amazing scientists and Nobel Prize-winners!

The population of Germany  

Germany is a country in Central Europe, and the second-most populous country in Europe (after Russia). Ancient humans were present in Germany at least 600,000 years ago. The first people to inhabit the region now called Germany were Celts. They were gradually displaced by Germanic tribes moving down from the north. The Federal Republic of Germany, the current German government and constitution were established in 1949. Germany has a complex history, including the Weimar Republic, Nazi Germany, East Germany and the reunification of Germany. Germany has a strong economy and is a global leader in several industries, including science and technology.

Geographic and demographic information

Summary statistics:

  • Land area: 357,022 km2
  • Gross domestic product (GDP):
    • Total: $4.743 trillion
    • Per capita: $56,956

Population statistics

  • Population size: In 2020, the total population size of Germany was estimated to be 83,190,556.
  • Birth rate: In 2019, the crude birth rate was 9.4 per 1,000 people.
  • Death rate: In 2019, the crude birth rate was 11.3 per 1,000 people.
  • Infant mortality rate: The crude infant mortality rate is 3.24 per 1,000 people.
  • Average life expectancy: The average life expectancy in 2018 was 80.89 years.  
  • Ethnicity: Germans are the predominant ethnic group in Germany, estimated at 80% of the country’s population. The largest ethnic group of non-German origin are the Turkish. Other ethnic minorities in the country include Polish, Italians and Russians.

Healthcare system

Germany was the first country in the world to establish a nationwide social health insurance system, in 1883. Health insurance is mandatory in Germany. They have adopted a multi-payer healthcare system paid for by a combination of statutory health insurance and private health insurance. This ‘all for one and one for all’ approach (or ‘solidarity principle’) ensures that everyone gets the same treatment. All workers contribute about 7.5% of their salary into a public health insurance pool, which is matched by employers. The higher you earn, the more you pay. If your income exceeds €60,750/year you’re not charged higher fees and can opt to get private health insurance. Others who can opt for private insurance, include those who earn under €450 per month, students between the ages of 23-30, self-employed individuals and civil servants. Germany’s spending on healthcare is relatively high, just over 11% of its wealth (compared to 9.8% in the UK).

With an expanding population and inflation of medical costs, health insurance costs are increasing. In addition, many doctors in Germany earn less than some other countries, meaning many doctors migrate to other places. This has meant that the German healthcare system has strongly relied on recruiting foreign qualified doctors.

Health priorities

The most common cause of death in Germany is cardiovascular disease, accounting for 35.3% of all deaths in 2019. The second most common cause is cancer, accounting for a quarter of all deaths. Diseases of the respiratory system are also one of the main causes of death. There are several prominent risk factors in Germany. In 2014, 21% of adults smoked tobacco every day. While smoking and alcohol consumption have generally declined, binge drinking remains problematic (and is the fifth highest in the EU). Another growing concern is obesity, with a quarter of adults in Germany being obese.

In addition, along with many other countries, a major issue is the ageing population. An ageing population not only puts additional pressure on the healthcare system, but it also increases the prevalence of chronic and age-related conditions, like dementia.

Surprisingly, in recent years, scabies has been diagnosed more frequently. The number of prescriptions against scabies increased from 38,000 in 2016 to 61,000 in 2017. It is currently unclear why the prevalence is rising.

Genomic medicine capabilities

Due to restrictive regulations, Germany has lagged behind other countries in genetic diagnostic capabilities. This has meant that meaningful diagnostic tests were not being offered to the majority of patients. For example, doctors were only allowed to invoice the health insurance companies for sequencing up to 25,000 of the three billion base pair of the human genome. This is equivalent to about four genes. Some conditions, like mental disabilities, have as many as 1,000 genes known to be involved. Fortunately, Germany recently removed the prior authorisation requirement for sequencing analysis by public health insurers. This means that the entire population now has better access to diagnostic approaches.

Germany has placed bans on the cultivation and sale of GMOs. They also have strong restrictive regulations that ban direct-to-consumer testing, with only a medically qualified practitioner being able to request genetic testing.

The nationwide newborn screening program in Germany was established in 2005. It includes diagnosis of hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, galactosemia or phenylketonuria (PKU). The costs of this program are covered by public health insurance. A few years ago, tyrosinaemia type I was added as the 16th disorder to the German newborn screening panel.

There are several challenges that remain in implementing pharmacogenomics into clinical care in Germany. These include the remaining knowledge gap, uncertainty regarding test reimbursement and physician’s lack of awareness of existing pharmacogenomic clinical support systems.

Notable projects

  • genomDE: genome DE is a national genome initiative that aims to improve the prevention, diagnosis and treatment of diseases by scaling access of genomic data, as well as linking it to clinical and phenotypic data.
  • 1+Million Genomes Initiative: Last year, Germany signed the Declaration, “Towards access to at least 1 million sequenced genomes in the EU by 2022”. This collaboration aims to improve disease prevention, allow for more personalised treatment and enable clinically impactful research.

Notable organisations and companies

  • Max Planck Institute for Molecular Genetics: Max Planck Institute for Molecular Genetics is a research institute for molecular genetics based in Berlin. The Max Planck Society was founded in 1911.
  • The German Cancer Researcher Center: The German Cancer Research Center is a national cancer research centre founded in 1964.
  • Eurofins Genomics: Eurofins is an international group of laboratories, providing testing and support services founded in 1987. Eurofins Genomics is an international provider of DNA sequencing services, oligonucleotide synthesis products and bioinformatic services.
  • Qiagen: Founded in 1984, Qiagen is a provider of sample and assay technologies for molecular diagnostics, applied testing, academic and pharmaceutical research.
  • Merck: Founded in 1668, Merck is a multinational science and technology company operating across healthcare, life science and performance materials.
  • BioNTech: BioNTech, short for Biopharmaceutical New Technologies, is a German biotechnology company founded in 2008 that develops and manufactures active immunotherapies. It develops pharmaceutical candidates based on mRNA.
  • CENTOGENE: CENTOGENE (founded in 2006) is a world leader in providing genetic diagnostics for rare diseases, transforming genetic data into medical decisions.
  • EMBL: European Molecular Biology Laboratory (EMBL) was created in 1974 to support molecular biology research. The headquarters is based in Heidelberg.
  • Several pharmaceutical companies were founded in Germany, including Bayer and Boehringer Ingelheim.

Notable individuals

Here, are just some German researchers who have made significant contributions to the field of genetics:

  • Klaus Pantel (1960-): Pantel is the Chairman of the Institute of Tumour Biology at The University Medical Centre Hamburg-Eppendorf. Alongside Catherine Alix-Panabières, Pantel coined the term ‘liquid biopsy’ and is a major player in this field.
  • Klaus Patau (1908-1975): Patau was a German-born American geneticist. He reported the extra chromosome in trisomy 13 in 1960 (also called Patau syndrome).
  • Christiane Nüsslein-Volhard (1942-): Nüsslein-Volhard is a German developmental biologist and 1995 Nobel Prize-winner. She is known for her work on protein-DNA interactions. She won her Nobel Prize for her research on the genetic control of embryonic development.
  • Rudolf Jaenisch (1942-): Jaenisch is a Professor of Biology at MIT and a founding member of the Whitehead Institute for Biomedical Research. He is also a pioneer of transgenic science.
  • Charlotte Auerbach (1899-1994): Auerbach was a German geneticist who contributed to founding the science of mutagenesis. She discovered that mustard gas could cause mutations in fruit flies.
  • Franz Josef Kallmann (1897-1965): Kallmann was a German-born American psychiatrist. He fled Germany in 1936 for the United States, because he was of Jewish heritage. He was one of the pioneers in the study of the genetic basis of psychiatric disorders. He also developed the use of twin studies in assessing the role of heredity and environment in psychiatric disease.
  • Walther Flemming (1843-1905): Flemming was a German biologist and a founder of cytogenetics.

Next steps

Despite a slow start, the value of advanced genomic technologies has become increasingly apparent in Germany. Earlier this year, Illumina announced an agreement with the Institute of Medical Genetics and Applied Genomics at the University Hospital of Tübingen to assess the value of whole-genome sequencing (WGS) as a first-line diagnostic test for patients with genetic diseases and familial cancer syndromes. The project, called Ge-Med Project, will also use the data to generate polygenic risk scores which will help identify individuals that may benefit from personalised medicine. The Institute is the first laboratory in Germany accredited to perform clinical WGS. This project is likely to propel the use of genomics in German healthcare.

In order to ensure the success of this integration, several challenges still remain, including the need for a more specialised workforce. In addition, to-date Germany’s healthcare system is decentralised making it difficult to establish uniformed quality standards. Developing standardised quality assurance standards is important, particularly in laboratories. Furthermore, experts have emphasised the importance of storing data in a central database to support seamless cooperation between researchers and healthcare.

While Germany is playing catch-up, it is clear that continued collaboration and review of regulations will help Germany implement genomic medicine and ultimately improve patient lives.

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