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World of Genomics: Austria

In this week’s World of Genomics, we’re off to Austria! Whilst this central European nation is perhaps most famous for its contributions to the classical music scene, Austria is also a key player in the European genomics space. With a claim to fame through Gregor Mendel, who was born in the Austrian Empire, and a significant part of the discovery of CRISPR-Cas9 taking place in the country, Austria’s contributions to genetics and genomics should not be overlooked.

Population of Austria

Austria is located in central Europe. It is landlocked, and has borders with Germany, Czechia, Slovakia, Hungary, Slovenia, Italy, Switzerland and Lichtenstein. It is situated within the Eastern Alps, and its mountainous landscape is perfect for skiing enthusiasts.

The area that is now modern-day Austria was first occupied by Celts, before invasion by the Roman Empire. Eventually, the nation was occupied by Bavarians and Slavs, before it was taken over by Charlemagne and, ultimately, the Hapsburgs. Subsequently, in 1804, the Austrian Empire was created by proclamation of the Hapsburgs.

The Empire was, at one time, the third largest monarchy in Europe and was once a major global power. However, the Empire was defeated in the Austro-Prussian war of 1866, which led to the merger of the Kingdom of Hungary and the Austrian Empire into the nation of Austria-Hungary. The country maintained its status as a world power and was a key player in World War I. Following the war, it was dissolved into two separate nations.

Today, Austria is diverse. In 2018, nearly 20% of Austrian residents were born in foreign countries, meaning Austria hosts the second highest number of foreign nationals in Europe, after Luxembourg.

Geographic and demographic information

Summary statistics:

  • Land area: 83,871km2
  • Gross domestic product (GDP):
    • Total: $ 479.8 trillion (2022 estimate)
    • Per capita: $ 53,320 (2022 estimate)

Population statistics:

  • Population size: 9,042,528 (2022)
  • Birth rate: 10 per 1,000 (2021)
  • Death rate: 10 per 1,000 (2021)
  • Infant mortality rate: 3 per 1,000 (2021)
  • Average life expectancy: 81 (2021)
    • Male: 79 (2021)
    • Female: 84 (2021)

Ethnicity: 83.3% Austrians, 2.2% German, 1.4% Romanian, 1.4% Serbian, 1.3% Turkish, 10.4% other including Croatians, Hungarians and Syrians.

Healthcare System

Austria’s healthcare system is a ‘two-tiered’ universal system, with the government ensuring basic care for most of the population. This is further complemented by additional private care for those who have the means to pay for it. Enrolment in the universal system is generally tied to employment, with contributions taken from wages, although one’s spouse and dependents are also covered. Some groups are covered regardless of employment status, such as students and the disabled, along with those receiving state benefits such as pensions. Health expenditure equals around 10% of Austria’s GDP (as of 2017) and spending has been steadily increasing over the last two decades.

The system is generally well regarded, and the population is relatively healthy. In the 2000s, it was ranked as the 9th best healthcare system globally by the World Health Organisation. Life expectancy is one year higher than the OECD average and only 7.8% of individuals are in poor health, compared to the OECD average of 8.5%. This is likely due to Austria’s comprehensive and accessible healthcare system, which sees effectively 100% of individuals covered. 75% of healthcare costs are covered through the universal system and around 86% of Austrians are satisfied with their care. Moreover, key healthcare indicators such as antibiotic prescription numbers and cancer screening uptake show that the system performs well.

The number of physicians and facilities is far higher than both the European and OECD averages, with 5.3 doctors and 10.4 nurses per 1000 people. There are also 7.2 hospital beds per 1000 people.

However, despite Austria’s high quality of care, the country lacks significant investment in preventative care. Although, during the COVID-19 pandemic, the nation ran a highly successful vaccination campaign, turning the tide on preventative medicine.

Healthcare Priorities

The leading causes of death in Austria are ischaemic heart disease, lung cancer and stroke.

Austria’s population is relatively healthy and life expectancy has steadily increased over the years. The proportion of those above the age of 65 is 18.8% as of 2019, higher than the OECD average of 17.3%. This ageing population can lead to strain on the healthcare system due to ill health and a smaller proportion of working adults.

The rates of smoking and alcohol consumption in Austria are high. 21% of individuals are daily smokers and around 5% of the population suffer from alcohol dependency. Alcohol use was seen to increase during the COVID-19 pandemic. To combat these problems, the government have tried various interventions such as the Austrian Dialogue Week on Alcohol. As for smoking, the government intended to implement a ban on tobacco use in bars and restaurants back in 2018, but eventually MPs voted to scrap the plans.

The rate of cancer is slowly increasing in Austria. There has been a 28% increase in cancer patients in the decade between 2010 and 2020. The most common forms of cancer are prostate, breast and lung, the latter contributing to a significant number of deaths. To combat this, various screening programs have been introduced, including a breast cancer screening program implemented in 2014 for women aged 45 to 69.

Genomic Medicine Capabilities

Newborn genetic screening is free of charge for all babies born in Austria. This screening covers rare congenital diseases such as phenylketonuria and cystic fibrosis. The program was first introduced in the 1960s and currently around 90,000 infants undergo screening each year. The program was most recently expanded in 2022 to include spinal muscular atrophy and severe combined immunodeficiency. Roughly 100 Austrian children are diagnosed with these rare diseases each year. Invasive pre-natal genetic screening is available for those deemed at risk and is provided free of charge if referred by a primary care physician. Additionally, around 25-50% of women opt to undergo non-invasive prenatal testing during their pregnancy.

Genetic counselling in Austria is exclusively carried out by doctors with a speciality in the practice, rather than as a distinct profession. This is a common practice across the German-speaking areas of Europe. A 2021 survey showed that the majority of medical professionals were opposed to the implementation of non-medical genetic counsellors. This has led to calls for better distinctions when it comes to the job titles and roles of medical geneticists within the Austrian health system.

In 2000, Austria enacted the Austrian Gene Technology Act. This act governs the use of genetic testing and gene therapy and mandates that genetic testing can only be conducted in specific circumstances, such as to determine disease risk. Relatives of a patient may also be tested provided they are eligible. Testing for scientific purposes must only be conducted with explicit permission and consent from the individual. The act also prohibits the misuse of data and forbids the passing of genetic data to insurance companies.

Notable Projects

CRISPR-Cas9 discovery: Nobel laureate Emmanuelle Charpentier and her team conducted their revolutionary research into CRISPR-Cas9 whilst working in Austria. Through an eventual collaboration with Jennifer Doudna (University of California, Berkeley) the ground-breaking gene editing work earned the 2020 Nobel Prize in Chemistry.

Genom Austria: Genom Austria was a pilot study launched in 2014 as part of the global Personal Genome Project, which aimed to create dialogue in the Austrian population around the use of genomics and the need for appropriate legislation regarding genomic medicine. The pilot phase was successful, yet the project was halted due to funding difficulties.

Biobank Graz: Hosted by the Medical University of Graz, the Biobank Graz is one of the biggest biobanks in the world and contains thousands of tissue and fluid samples. Research using these resources typically focuses on diagnostics and treatment.

Austrian Genome Research Project (GEN-AU): Launched in 2001 by the Ministry for Education, Science and Culture, GEN-AU aimed to further genomic research capabilities in Austria. The government have invested heavily into the scheme and numerous individual projects have been carried out under the GEN-AU umbrella. Initially scheduled to run for nine years, a 2013 evaluation encouraged the continuation of the project due to the overwhelmingly positive outcomes.

German-Austrian genome deal: The 2003 German-Austrian genome deal allowed Austrian scientists access to a significant amount of genomic data held in German databases. The deal acted to further genomic research in Austria and the wider German-speaking community.

Notable Organisations and Institutions

Vienna BioCentre: The highly regarded Vienna BioCentre is a life sciences cluster, comprising multiple institutes and laboratories focused on different aspects of biological research. Among these institutes is the Institute of Molecule Biotechnology and the Gregor Mendel Institute of Molecular Plant Biology. Large parts of the discovery of CRISPR-Cas9 systems took place at the Vienna BioCentre, led by Emmanuelle Charpentier.

Centre for Molecular Medicine (CeMM): Led by the Austrian Academy of Sciences, scientists at CeMM conduct research into the molecular basis of human diseases, including cancers and immune disorders. CeMM hosts the Biomedical Sequencing Facility, the only facility of its kind in Austria, which provides state of the art sequencing technology to researchers.

Biobanking and Biomolecular Resource Research Infrastructure (BBMRI-ERIC): A pan-European research infrastructure for biobanking and biomolecular research based in Graz, Austria. BBMRI-ERIC provides facilities to researchers, but also deals with ethical and legislation issues that arise relating to biomedical research.

Notable People

Emmanuelle Charpentier (1968-): Although French by birth, Charpentier worked and taught in Austria during the 2000s and early 2010s, eventually conducting her breakthrough gene editing research at the Max F. Perutz Laboratories in Vienna.

Clemens von Pirquet (1874-1929): A bacteriologist and immunologist, von Pirquet was an integral figure in early allergy research. He was responsible for coining the term after observing hypersensitivity reactions in some patients who received the smallpox vaccine.

Gregor Mendel (1822-1884): A notable mention must go to the Father of Genetics. Gregor Mendel, famed for his research into heredity via the use of pea plants, was born in the Austrian Empire and attended the University of Vienna, although his birthplace is now part of Czechia. His influence is still felt in the country, with a prestigious plant research institute named after him.

Future Genomics Landscape

Austria is already well on its way to being a leader in genomics research. Despite already being home to numerous prestigious institutes, the nation is continuing to build up their infrastructure. In 2022, it was announced that a dedicated precision medicine centre would be built, with a scheduled completion of 2025. The centre will be part of a larger campus that will also focus on translational medicine. Whilst researchers at the institute will focus on cancer primarily, they will also specialise in topics such as allergies, due to Austria’s legacy in the field. The Austrian government sees precision medicine as one of ‘the most significant societal challenges of our time.’ Due to this, they are investing heavily in the field, primarily by increasing their genomics research output.

References

Encyclopaedia Brittanica. 2023. Austria. Available online at: https://www.britannica.com/place/Austria#ref33387

World Bank. 2023. Indicators. Available online at: https://data.worldbank.org/indicator

OECD. 2021. Health at a Glance 2021 – Austria. Available online at: https://www.oecd.org/austria/health-at-a-glance-Austria-EN.pdf

International Trade Administration. 2017. Healthcare Technologies Resource Guide – Austria. Available online at: https://www.trade.gov/healthcare-resource-guide-austria

Medical University of Vienna. 2022. Neonatal Screening: Programme Successfully Expanded. Available online at: https://www.meduniwien.ac.at/web/en/about-us/news/2022/news-in-june-2022/neugeborenen-screening-erweiterung-erfolgreich-umgesetzt/

Schwaninger, G., et al. 2021. The Genetic Counseling Profession in Austria: Stakeholders’ Perspectives. Journal of Genetic Counselling. Vol. 30 Issue 3.