World of Genomics: Czechia
In this week’s World of Genomics, we’re off to Czechia, also known as the Czech Republic. Czechia is famed for its architectural wonders – its capital city Prague is known as the City of Spires and is home to the world’s largest castle complex. The country is also known for its delectable selection of beers that are enjoyed worldwide.
Czechia is the birthplace of Gregor Mendel, the ‘father of genetics’ – but what is his legacy in the nation?
Population of Czechia
Czechia is a landlocked nation in Central Europe. It borders Austria, Poland, Germany and Slovakia. Modern day Czechia comprises the two historical regions Bohemia and Moravia, and also part of Silesia.
It is thought that humans have inhabited the area since Palaeolithic times. In the 3rd century BC, Celtic settlers found a home in the region, and the first towns were founded. The region eventually welcomed Slavs, who influenced much of the country’s history and culture.
The Duchy of Bohemia was founded in the 9th century and operated as an Imperial State under the rule of the Holy Roman Empire until 1806. Bohemia has a rich and complex history, eventually coming under control of the Hapsburgs in the 16th century and suffering through the Thirty Years War. This sparked what was known as the ‘Dark Ages’, with much of the Bohemian population dying due to famine and war.
Following the end of the Holy Roman Empire, the region came under control of the Austrian Empire. However, ongoing movements to restore autonomy to the region led to the creation of Czechoslovakia in the early 1900s. The nation faced occupation during World War II, and became part of the communist Eastern bloc in the latter part of the century. After the reintroduction of democracy in the nation, Czechoslovakia peacefully split into two countries in 1991 – the Czech Republic and Slovakia. In 2016, the country adopted the name Czechia – although the name Czech Republic remains widely used.
Geographic and Population Statistics
- Land area: 78,871 km2
- Gross domestic product (GDP):
- Total: $509 billion (2022)
- Per capita: $47, 527 (2022)
- Population size: 10.5 million (2022)
- Birth rate: 11 per 1000 (2021)
- Death rate: 13 per 1000 (2021)
- Infant mortality rate: 2 per 1000 (2021)
- Average life expectancy: 77 (2021)
- Male: 74 (2021)
- Female: 81 (2021)
- Ethnicity: 89% Czech, 3.3% Moravian, 0.9% Slovak, 0.7% Ukrainian, 6.1% other.
A universal health system was introduced in the early 1990s after Czechia split from Slovakia, which operates under a social health insurance model. As of 2019, over 80% of healthcare spending was derived from public sources. The Ministry of Health is the main administrator, with the majority of the system controlled centrally. However, some aspects of healthcare – such as emergency care – are regulated autonomously within different Czech regions.
The Czech health system is generally well regarded, although it falls behind European averages in some respects; notably, in financing. In 2019 Czechia spent approximately 7.8% of its GDP on healthcare, below the EU average of 9.9%. This number did, however, rise during the COVID-19 pandemic. The majority of funding comes from compulsory enrolment in the Czech Social Health Insurance scheme. However, all permanent Czech residents are entitled to care regardless of their insurance status. Strikingly, just over half of the country are actually contributors to the insurance fund, and the government provides funding for the rest of the nation. For those who make them, contributions are taken straight from wages. There are various national insurance funds to opt-in to, and citizens are given free choice over which they use.
The Czech health system covers a range of inpatient and outpatient treatments. It also covers prescriptions, dental care and even some spa treatments, provided these are to maintain or improve an individual’s health.
Out-of-pocket payments constituted around 14% of Czech health expenditure in 2019. This was primarily used to cover co-payments on certain medications, contributions towards procedures not fully covered by the public fund and, in some cases, private insurance payments.
Despite healthcare in Czechia generally falling short of EU averages, the nation was one of the best at handling and mitigating the impact of the COVID-19 pandemic.
The leading causes of death in Czechia are cardiovascular diseases and cancer. Life expectancy in the country has increased over the last decade to 77, yet remains slightly below the EU average of 80.
A significant number of deaths in Czechia are attributed to non-communicable diseases, brought on largely by behavioural risks. In 2019, over 20% of the adult population were daily smokers and a shocking number of young people – around 20% of 15-year-olds – also engaged in tobacco use. However, the government have taken steps to improve this, by implementing new legislation around smoking in public places. Alcohol consumption is also a concern with Czechia having one of the highest alcohol consumption rates in Europe. Again, the government have taken steps to address this, including increasing taxes on spirits.
Obesity is also a problem in Czechia. The nation is known for having relatively poor diets compared to its European neighbours, and around a fifth of adults are obese. This number is predicted to rise even more, with projections showing that over a third of adults will be obese by 2030.
In 2022, Czechia signed an agreement with the World Health Organization, addressing health concerns for the future. The agreement constitutes a 2-year plan to establish Czechia as a global health leader. Priorities included in the plan are ‘oncology, rare diseases, vaccinations, [and] … misinformation in health issues.’
The country has also introduced a strategy called Health 2030 to improve health of the population over the next decade. The plan has three strategic goals – improving the health status of the population, optimising the health system and supporting science and research.
Genomic medicine capabilities
The first implementation of childhood genomic screening in what is now Czechia was in the 1950s, when 5,000 school children had their urine tested for markers of phenylketonuria. However, genetic screening in newborns did not become commonplace until the 1970s. Over the decades, more and more diseases were added to the list of conditions tested for at birth. The national newborn screening program was most recently expanded in 2016 and now includes 18 different diseases.
Genetic counselling is offered to patients in Czechia and is relatively accessible. It can be obtained through a variety of avenues, including at research institutions such as at the Institute of Biology and Medical Genetics at Charles University. The service is available to parents who are at risk of having a child with a genetic condition, adults at risk of familial cancer syndromes, and more. However, there are no ‘non-medical’ counsellors in Czechia; that is, genetic counsellors without a medical background.
As for cancer testing, any women who are at risk of familial ovarian or breast cancers are entitled to genetic screening. They are also entitled to follow-up genetic counselling to discuss results and next steps. This is provided through the national health system. The cancer-causing mutations most commonly found in the population are different between Bohemian and Moravian groups, particularly within the BRCA2 gene. This highlights different medical priorities within the Czech population and a need for personalised approaches.
In 2017, Czechia signed the Additional Protocol to the Convention on Human Rights and Biomedicine concerning Genetic Testing for Health Purposes. The protocol governs the quality of genetic testing and deals with issues surrounding data and consent.
Czech Genome/Multiome Project: Beginning in 2017, researchers have obtained various genomic and multi-omic data from hundreds of Czech individuals. The project is supported by EATRIS and has already resulted in the development of tools like Gen Seeker – a genome browser specifically for Czech genomes.
Analysis of Czech Genomes for Theranostics (ACGT): Overseen by the National Centre for Medical Genomics, the ACGT project aims to sequence the genomes of 1,500 Czech individuals and create a national database of genetic variation within the population.
The first ever pea genome: An ode to Moravian-born Gregor Mendel, Czech scientists were the first to present the sequence of the full pea genome back in 2019.
Beyond 1+ Million Genomes Project: Czechia is one of 24 EU nations to have signed up to the B1MG project, which aims to collect genomic data from across the continent and facilitate cross-border data sharing.
Notable organisations and institutions
Institute of Molecular Genetics of the Czech Academy of Sciences (IMG): The IMG consists of 27 research groups and other service groups who provide infrastructure for research. Work at the institute includes cancer biology, viral genomics, epigenetics and more.
Czech Center for Phenogenomics: A research infrastructure that facilitates biomedical research by providing genetic engineering capabilities and animal services. It is based at the Biotechnology and Biomedicine Center in Vestec (BIOCEV).
EATRIS-CZ: EATRIS is the European Infrastructure for Translational Medicine. They facilitate the sharing of expertise and facilities across Europe and focus on drug and vaccine development and diagnostics. Czechia joined EATRIS in 2011 and they have funded some significant Czech projects.
National Center for Medical Genomics (MCMG): Part of BIOCEV and Charles University, MCMG provides sequencing technology and bioinformatics analyses, among other resources such as large genomic databases. Their work aims to further the use of genomic medicine in Czechia.
Gregor Mendel (1822-1884): The ‘father of genetics’, Mendel is most famous for his genetic experiments in peas. He uncovered the basic rules of heredity for monogenic traits, creating a branch of biology known as Mendelian genetics. His findings are still taught today and form the basis of genetics education.
Antonin Holý (1936-2012): A famous Czech chemist, Holý played a significant role in the development of antiretroviral therapies to treat HIV. His work has influenced the lives of millions of HIV and AIDS patients.
Jan Evangelista Purkynje (1787-1869): One of the most prominent scientists of his time, Purkynje was an early 19th century anatomist. He is best known for his discovery of Purkinje cells and fibres, and was also responsible for coining the terms ‘plasma’ and ‘protoplasma.’
Future genomics landscape
With rare disease and oncology playing a large role in Czechia’s agreement with the World Health Organisation, there is no doubt that genomic medicine will be at the forefront of the Czech health system in the not-too-distant future.
A 2022 study was conducted comparing the communication of genetic test results to patients in the UK and Czechia. The work uncovered certain areas in which the communication fell short, and suggested ways in which post-test care could be improved. These findings should help to further improve the genomic medicine service within Czechia.
Following the COVID-19 pandemic, the importance of viral genomics was brought to light. Czechia had no viral research centres as the previous Czechoslovakian institutes were based in modern day Slovakia. However, an institute has recently been founded, focusing on all aspects of virology, particularly genomics. This should allow Czech scientists to further their expertise in the topic, and gain skills that translate across the genomics sphere.
European Commission. 2021. State of Health in the EU. Czechia. Country Health Profile 2021. Available online at: https://health.ec.europa.eu/system/files/2021-12/2021_chp_cs_english.pdf
OECD. 2023. Health System Performance Assessment Framework for the Czech Republic. Available online at: https://www.oecd.org/health/bycountry/czechrepublic/
Novorozenecky Screening. Neonatal screening in the Czech Republic. Available online at: https://www.novorozeneckyscreening.cz/en/for-health-care-proessionals
Encyclopaedia Britannica. 2023. Czechia. Available online at: https://britannica.com/place/czechia
World Bank. Indicators. Available online at: https://worldbank.com/indicator