World of Genomics: Switzerland

Original article written by Shannon Gunn, January 2022. Updated by Gemma Davies, October 2023.

Aside from its luxury branded watches and delicious chocolate, Switzerland is home to mesmerising alpine scenery. Switzerland is known for its excellent healthcare system, but the nation’s presence within the genomic medicine field has been limited. However, within the last decade, Switzerland has seen the launch of a personalised health initiative and genome centre, which aim to promote genomic medicine in Switzerland.

The population of Switzerland

Switzerland, officially the Swiss Confederation, is a landlocked country in Europe bordered by Italy, France, Germany, Austria and Liechtenstein. The territory of Switzerland was originally inhabited by the Helvetic Celts until it came under Roman rule in 1^st century BC. After the decline of the Roman Empire, Switzerland was invaded by Germanic tribes. Switzerland was officially formed in 1291 by an alliance of cantons (districts) against the Habsburg dynasty. Since the mid-19^th century, Switzerland has enjoyed relative domestic tranquillity.

Despite the fact that the Alps occupy the greater part of the territory, more than 75% of the population live in the central plateau. In general, the genetic composition of the Swiss population is similar to that of Central Europe. However, Switzerland has been at the crossroads of several prehistoric migrations and the Alps have acted as a refuge in some instances.

Geographic and demographic information

Summary statistics

• Land area: 41,285 km².
• Gross domestic product (GDP):
  • Total: $807.71 billion (2022 estimate).
  • Per capita: $92,101.50 (2022 estimate).

Population statistics

• Population size: 8,864,000 (2023 estimate).
• Birth rate: 10.08 per 1,000 people (2021).
• Death rate: 8 per 1,000 people (2021).
• Infant mortality rate: 4 per 1,000 live births (2021).
• Average life expectancy: 84 years (2021).
  • Male: 82 years (2021).
  • Female: 86 years (2021).
• Ethnicity: The major ethnic group in Switzerland is Swiss (74.7%). Other groups include Italian (3.7%), German (3.6%), Portuguese (3.0%), French (1.6%) and Kosovan (1.3%).

Healthcare system

The healthcare system in Switzerland has an outstanding reputation. It combines public, subsidised private and completely private healthcare systems. The system is universal and of a high standard. It is regulated by the Swiss Federal Law on Health Insurance, which was implemented in 1996. All residents are obliged to take out basic health insurance.

Switzerland has an extensive network of doctors, clean and well-equipped hospitals and clinics, short waiting lists, opportunities for individuals to choose their own doctor and typically unlimited access to specialists. Accident and emergency rooms are also rarely overwhelmed. Around 90% of users report moderate or complete satisfaction with the system.

Challenges within the system include high and constantly rising premiums and other additional costs. The system will also need to adapt to deal with rising chronic diseases such as cancer, cardiovascular disease and diabetes. To manage increasing disease burdens and an ever-growing population, Switzerland maintains a large number of hospitals, resulting in a significant impact on healthcare funding. While these systems have previously served the country well, it will not support the increasing number of patients with chronic diseases who will require less intensive care on a more regular basis. There also needs to be greater effort in collecting data on health outcomes to track key health risks.

Health priorities

Cardiovascular disease and cancer are the two leading causes of death in Switzerland. In 2020, COVID-19 became the third leading cause of mortality. Other significant causes include dementia, respiratory diseases and external causes such as suicide and accidents.

Over the past few decades, Switzerland has implemented some very successful disease control programmes. For example, when HIV first emerged, Switzerland had among the highest infection rates in Europe. It has now been reduced from a peak of 3,251 cases in 1986 to 610 in 2010. The national tuberculosis programme also resulted in a decline of 18 incidences per 100,000 in 1990 to 4 per 100,000 in 2008.

In comparison, Switzerland’s success with influencing healthy lifestyles has seen mixed results. For example, obesity remains a significant health issue in Switzerland. In 1992, 5% of Switzerland’s population was classified as obese. However, in 2022, 18.5% of adult women and 24.9% of adult men were living with obesity.

The burden from mental disorders in Switzerland is also a concern. However, the suicide rate in Switzerland has dropped significantly over recent years, with 2020 rates falling below 1,000 cases for the first time since 1964.

In Switzerland, 2.2 million people suffer from noncommunicable diseases. As a result, in 2016 Switzerland adopted the National Strategy for the Prevention of Noncommunicable Diseases (2017-2024) to take essential steps toward prevention.

The Federal Council also adopted the new Health 2030 Strategy in 2019, which defines new health policy priority areas. The strategy builds on the Health 2020 Strategy and focuses on four more pressing challenges:

• Technological and digital transformation
• Demographic and social changes
• Maintenance of high-quality, affordable care
• Opportunities for a healthy life (environment/workplace)

Genomic medicine capabilities

Medical genetics started in Switzerland as an independent activity in the late 1940s. By the 1960s, all University Hospitals had institutes of medical genetics. Then in 1978, the Swiss Society of Medical Genetics was founded.

In 2004, Switzerland adopted the Federal Act on Human Genetic Testing, which prohibits genetic discrimination against individuals in health, life and disability insurance. This law also means that genetic testing may only be carried out if comprehensive counselling has been provided and informed consent has been given. In December 2022, the Human Genetic Testing Act (HGTA) was created to further protect patient privacy rights, prevent abuse of genetic data and to standardise the reporting and interpretation of results.

In Switzerland, newborn screening (NBS) was introduced in 1965 for the detection of Phenylketonuria (PKU) using a dried blood spot. Since 2006, NBS has become centralised and several other conditions have been added, including cystic fibrosis in 2011. Amniocentesis for prenatal cytogenetic diagnosis started in Switzerland in 1970, chorionic villus sampling in 1983 and foetal blood sampling in 1989.

Testing for genetic predisposition to hereditary cancer syndromes is available within a clinical setting. Cancer risk assessment and genetic counselling are mandatory before and after genetic testing. DNA analysis is only covered by health insurance companies if the individual has undergone genetic counselling and informed consent has been obtained. Gene panel testing has become the standard of care.

The availability of genetically trained physicians, cytogeneticists and clinical molecular geneticists is good. However, the number of genetic counsellors is limited, with no available training programs in the country.

Notable projects

• Swiss Biobanking Platform (SBP): The leading national research infrastructure for biobanking activities, creating a high quality and interoperable link between European biobanks and researchers.
• Pan-Cancer Analysis of Whole Genomes Project (PCAWG): Switzerland is part of an international research collaboration that aims to create the most comprehensive catalogue of gene alterations associated with cancer.
• The Swiss Personalized Health Network (SPHN): SPHN is a national initiative that was established in 2017 to help develop personalised medicine in Switzerland. It aims to establish interoperability of health-related information.
• Health 2030: Health 2030 is a multicentric and multidisciplinary initiative aimed at exploring and exploiting new technologies in personalised medicine. The Genome Center is the genomic medicine arm of the Health 2030 initiative.
• Swiss Kidney Project on Genes in Hypertension (SKIPOGH): SKIPOGH ran from 2009 to 2016 and investigated the genetic and non-genetic determinants of blood pressure, renal function and other health-related outcomes in the Swiss population.
• The One Family One Word Project: A partnership between Living DNA and Eupedia established in 2017, which aims to create a detailed map of genetic variations throughout the world. Aiming to improve understanding of the effect of ancient and recent migrations, this project explores how all humans are connected. Current data from this project shows that Switzerland has at least 10 distinct genetic regions.

Notable organisations and companies

• Swiss Institute of Bioinformatics (SIB): The Institute was established in March 1998 and provides core bioinformatics resources to research in fields such as genomics, proteomics and systems biology.
• The Genomics Facility Basel: GFB is a central research and service facility part of the ETH Zurich Department of Biosystems Science and Engineering and jointly operated with the University of Basel. The team provides technical support for next generation sequencing applications in genomics and epigenomics.
• Institute of Genetics and Genomics of Geneva (iGE3): iGE3 is a research institute in Geneva that focusses on conducting biomedical research and teaching based on genetic/genomic scientific analysis.
• The Swiss Society for Medical Genetics: This specialist society plays a key role in medical, genetic and genomic patient care. It aims to develop genomic medicine in practice.

As of 2020, Switzerland is home to over 310 pharmaceutical and biotech companies, including Novartis, Roche, Bayer, Abbott, Tecan and Genedata. The pharmaceutical industry contributes to 5.7% of the GDP of Switzerland and employs around 135,000 people.

Notable individuals

• Walter Jakob Gehring (1939-2014): Walter was a Swiss developmental biologist whose research mainly involved studies of Drosophila. He and his collaborators identified PAX6 as a master control gene for eye development.
• Werner Arber (1929-): Werner is a Swiss microbiologist and geneticist. Alongside Hamilton Smith and Daniel Nathans, Werner won the 1978 Nobel Prize in Physiology or Medicine for the discovery of restriction endonucleases.
• David Klein (1908-1993): David was a Swiss human geneticist and ophthalmologist who made significant contributions towards our understanding of Waardenburg syndrome.
•  Johannes Friedrich Miescher (1844-1895): Johannes was the first scientist to isolate nucleic acid in 1869.
• Werner Schmid (1930-2002): Werner was a pioneer of clinical and experimental cytogenetics. He was one of the first to report on patients with cat eye syndrome.
• Tanja Stadler (1981-): Born in Germany, Tanja now resides in Switzerland where she is a Professor of Computational Evolution at the Swiss Federal Institute of Technology. She is known for her work in the field of phylogenetics.
• Barbara Treutlein: Barbara pioneered the use of microfluidic-​based single-​cell transcriptomics to dissect the cellular composition of complex tissues. Her work at ETH Zürich D-​BSSE is focussed on using single-​cell genomics approaches in combination with stem cell-based culture systems to study human organogenesis.

The future genomics landscape

Between 1997-2008, Switzerland was ranked second in the number of citations per genomics/genetics articles in the Life Sciences journal Lab Times. Over the past decade, Switzerland has launched several initiatives aiming to propel precision medicine in Switzerland forward. In fact, in mid-November 2021, the Swiss Personalised Health Network (SPHN) and the university hospitals renewed their collaboration agreements following the success of the first period, aiming to establish uniform standards for data structuring to allow the linking and comparison of data at a national level. The second period 2021-2024 will focus even more on the interoperability and sustainability of the infrastructure. In turn, this will support the development of personalised medicine and healthcare within Switzerland.

More recently, Switzerland has contributed to advancements in our understanding of COVID-19 by launching a platform via SIB to track variants. The platform – Swiss Pathogen Surveillance Platform – will ensure better monitoring of variants and boost international research efforts.

Genome analysis is becoming commonplace across research and within clinics. With its strong healthcare system and detailed patient phenotyping, Switzerland has a lot to offer in terms of scientific strength. Nonetheless, with an ageing population and continued advancements in healthcare technologies, health spending in Switzerland is expected to continue to rise. This has created concerns surrounding the financial sustainability of the system. As a result, Switzerland will need to develop more cost-effective policies to control health expenditure in the future.  

As Switzerland continues to support initiatives within personalised medicine, it will develop an effective ecosystem that will accelerate development in this industry. This in turn will advance prevention, diagnosis and treatment of diseases and will push Switzerland to the forefront of personalised healthcare and research internationally.

References

• Driessen S, Gervasoni P. Research projects in human genetics in Switzerland: analysis of research protocols submitted to cantonal ethics committees in 2018. Swiss Medical Weekly. 2021 Jan 18;151(0304).
• Encyclopaedia Brittanica. 2023. Switzerland. Available online at https://www.britannica.com/place/Switzerland
• Meier-Abt PJ, Lawrence AK, Selter L, Vayena E, Schwede T. The Swiss approach to precision medicine. Swiss Medical Weekly. 2018 Jan 2.
• Pescia G. Genetic services in Switzerland. European Journal of Human Genetics. 1997 Mar;5(2):174-7.
• World Bank. 2023. Available online at: https://data.worldbank.org/country/switzerland.
• World Health Organization. WHO Country Cooperation Strategy at a glance: Switzerland. 2018.