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World of Genomics: Poland

Introduction

Whilst classical music may not be everyone’s cup of tea, it is hard to deny the lasting influence of talented composers such as Chopin. The pianist is just one of Poland’s contributions to the world as we know it today. The central European country is home to some delicious culinary offerings, among them is the famous pierogi – pan-fried dumplings which can come in sweet or savoury varieties.

A nation filled with history and culture, marked by beautiful mountain landscapes, beaches, and even a desert, Poland is a country that should not be overlooked when considering its impact on today’s world. Once devastated by war, the country is now becoming increasingly popular with tourists.

Population

Sitting in the centre of Europe, and once the largest country on the continent, the changing landscape over recent centuries leaves Poland standing today as the fifth largest country in the European Union. Bordering Germany, Czechia, Slovakia, Lithuania, Ukraine, Belarus and the Kaliningrad Oblast of Russia, Poland also has a 270-mile coastline along the Baltic Sea to the north. Poland’s history is anything but simple, with the once powerful country disappearing at one point in time, annexed by neighbouring nations and subject to invasions by foreign entities.

Only re-established as a nation of its own in 1918, Poland suffered in the wake of the First World War and Great Depression, and a mere two decades after its inception was heavily impacted by the Second World War and invasion by Germany. Millions of Poles were killed during the holocaust, among them the majority of the country’s native Jewish population. The effects of this can still be seen in Poland’s demographics today – almost 90% of residents now practice Christianity, and 93% of the population identify as ethnically Polish, a stark contrast to the diverse makeup of the nation prior to the Second World War. Communist rule and Soviet influence followed in the latter part of the 20th century, hindering Poland’s post-war recovery and development. The Solidarity movement in the 1970s saw the Poles push for democracy, and in 1989 communism was wiped out in the country.

Poland has grown to become the sixth largest economy in the European Union but is still today facing the consequences of war. Millions of people have recently fled Ukraine and Poland has become home to 1.4 million of these refugees.

Geographic and demographic information

Summary statistics

  • Land area: 312,696 km2
  • Gross domestic product (GDP):
    • Total: $661.7 billion
    • Per capita: $17487

Population statistics

  • Population size: 37.8 million (2020)
  • Birth rate: 9 per 1000 (2020)
  • Death rate: 13 per 1000 (2020)
  • Infant mortality rate: 4 in 1000 (2020)
  • Average life expectancy:  77 (2020)
    • Male: 73
    • Female: 81
  • Ethnicity: 93.7% of the population are ethnically Polish. 0.6% of the population identify as Kashubian (a historic region of Poland), with the remaining 5.7% comprising Ukrainians, Belarusians, Lithuanians and Germans.

Healthcare system

In 1999, Poland’s healthcare system underwent major reform, moving from a purely tax-funded structure to an insurance-based model. The system has since undergone further changes, including moving to a more centralised system in the early 2000s and the introduction of the National Health Fund. The National Health Fund provides cost-free healthcare to the Polish population so long as they pay insurance fees or fall into one of a variety of vulnerable groups, for example children or pregnant individuals. Whilst the vast majority of the Polish population are covered by an insurance policy – be that via an employer or through a relative – or are otherwise entitled to care, the proportion of health-related costs paid privately by individuals is 23%, much higher than the EU average of 15%.

The Polish healthcare system has faced scrutiny for underperformance, high waiting times, and for inefficient management due to different levels of control from national, regional, county and municipal bodies. The country has the fifth-highest rate of unmet medical needs in the EU, a high amenable mortality rate, and the system is often over capacity, partly due to a lack of trained staff who can find more favourable working conditions outside of Poland. To combat this, the Polish government has proposed increased pay for nurses and physicians.

Due to the plethora of challenges faced by the Polish healthcare system, major reforms have once again been proposed, including the abolition of the National Health Fund and a move back to a tax-based system. Other proposed changes include the introduction of County Health Centres to help seamlessly integrate different levels of healthcare and calls to dissociate access to healthcare from employment status. Despite these efforts, the impact of COVID-19 and recent migration due to the war in Ukraine has placed additional strain on the already struggling service.

Healthcare Priorities

Europe as a whole is challenged by the problem of an aging population. However Poland has a lower number of over-65s compared to the EU average and life expectancy remains relatively low at 77. The elderly population, although smaller than in comparable countries, is plagued by disease and disability, and as life expectancy slowly increases, this is expected to cause further strain on the health system.

The most widespread causes of death in Poland in 2014 – contributing to more than 67% of deaths in women and 74% of deaths in men, combined- were cardiovascular disease, stroke and cancer. This is largely attributed to behaviour such as smoking and sedentary lifestyle, with almost a quarter of Polish adults admitting to smoking and only 60% of adults reporting regular moderate exercise. Combined with generally poor diets, this lack of activity has led to increasing obesity rates and associated health risks in the country. The rate of obesity in children is increasing at a concerning level, and suggestions have been made to include health education in the school curriculum.

As for smoking, there have been several successful public health campaigns in the past, such as the “Let’s Stop Smoking Together” campaign. Offering professional support and lucrative incentives (for example a trip to Rome to meet with Pope John Paul II), the movement is believed to have contributed to 4 million peoples’ decision to quit smoking in the 1990s and 2000s. Despite this monumental initiative, smoking rates in the country remain higher than the EU average, and lung cancer remains the fourth most common cause of death in Polish men. The Polish Government has now implemented a National Health Programme aimed at decreasing smoking, obesity and binge drinking by 2025.

In addition, around 23% of Polish adults suffer from some form of mental health condition, compared to 12% in Europe as a whole. To combat this, community mental health services have been introduced in Poland alongside a new Mental Health Protection Programme. These initiatives have already been seen to contribute to a decrease in mental health related hospital stays.

Genomic medicine capabilities

Following a period of financial instability which hindered research progress in the country, by the late 1990s genetic counselling, prenatal testing and other key medical procedures were beginning to become widespread in Poland.

Today, most parents are offered cost-free, publicly funded prenatal screening through the National Health Fund. Introduced in its current form in 2019, with some aspects of the programme delayed due to the COVID-19 pandemic, pregnant individuals are offered a variety of prenatal tests, including checking for chromosomal aberrations, and are offered fully funded genetic counselling appointments in the event of an abnormal result. In 2020, over 40,000 families attended one of  these appointments. Despite overall participation in the programme dropping in 2020, the introduction of online appointments with clinical geneticists led to an increase in attendance. At birth, newborns in Poland are screened for genetic conditions such as cystic fibrosis, PKU and hypothyroidism, with the Institute for Mother and Child responsible for over a quarter of these tests.

Genomic medicine continues to play a role later in life, and whilst prenatal genetic counselling is available cost-free, counselling for adults is often carried out at private centres. Patients who may choose to see a genetic counsellor include those susceptible to hereditary breast cancer. There is active research in this field in Poland, with a test having been recently developed to identify cancer causing genes specifically found in Polish women.

With an increase in direct-to-consumer testing, it is important to consider the implications of receiving any results without a trained medical professional present, and this has been addressed in the Oviedo Convention (of 1997). The Convention states that genetic testing should only be carried out for certain reasons including research or to identify carriers of a condition. Despite having been in place for over 25 years, Poland has only signed and therefore acknowledged the convention, it has not ratified it, meaning it is under no obligation to introduce these principles in its laws. This means that as of now, direct-to-consumer genetic testing is still unregulated in Poland.

Notable projects

Genomic Map of Poland: Carried out by the Institute for Bioorganic Chemistry, the aim of the Genomic Map of Poland project is to sequence the genomes of 5,000 individuals from across the country with the intention of creating reference genomes for different regions and a map of genetic variation, with an emphasis on the creation of new tools to help further genomic research. A project of this scope has so far been achieved by very few countries and will lay the groundwork for effective precision medicine in the country.

Thousand Polish Genomes Project: The Thousand Polish Genomes project involved whole genome sequencing of over 1,000 Polish individuals to create an internationally accessible database of genome variation within the country. Initial analysis of the database has identified the frequencies of certain disease-associated alleles in the Polish population, and the intention is to use the database to enable more research into genetic variation in the Polish population.

RNAPolis: RNAPolis is a web portal developed by the European Centre for Bioinformatics and Genomics, and hosted by the Poznan University of Technology. The portal consists of various tools to assess RNA sequences and structures computationally, reducing the burden of having to carry out analyses in the lab.

Polish Roadmap for Research Infrastructures: A government initiative published in 2020, the Polish Roadmap for Research Infrastructures consists of 70 projects to enhance research capabilities within the country, including but not limited to genomic and other biological research. Financial backing and decisions made as part of the Polish Roadmap for Research Infrastructure have contributed to projects such as the Genomic Map of Poland.

Notable organisations and companies

European Centre for Bioinformatics and Genomics: ECBiG is a Polish based organisation founded by the Poznan University of Technology and the Institute of Bioorganic Chemistry with a mission to provide tools, funding and support for bioinformatics and genomics research in Poland. The centre is supported through EU grants and has itself funded numerous projects, including the Genomic Map of Poland.

Polish Biobanking Centre: The Polish Biobanking Centre stores tumour and blood samples for use in genomics research, particularly genomic cancer diagnostics. Other data held by the Centre includes medical records and pathology information. The data is accessible upon an application and has been used to further research into precision medicine and diagnostics.

Jagiellonian University: Jagiellonian University is a highly ranking Polish educational institution, and the 13th oldest University in the world. The University hosts a prestigious Medical College and multiple research institutes, including the Malapolska Centre for Biotechnology and Centre for Medical Genomics Omicron, a centre set up to enable the use of omics and high-throughput technology.

Institute of Human Genetics, Polish Academy of Sciences: Established in 1974, the Institute was founded as part of the Polish Academy of Sciences to facilitate research into human genetics and disease. Consisting of numerous research departments, work within the Institute focuses on a wide array of topics including immunity, fertility and genetic engineering.

Notable individuals

Marie Curie: Perhaps one of the world’s most famous scientists, Marie Curie hailed from Warsaw. Growing up during Poland’s time as part of the Russian Empire, Curie moved to France in adulthood where she performed pioneering research into radiation and discovered the elements radium and polonium. She was the first person to be awarded two Nobel Prizes and remains the only woman to have done so, and the only person to have achieved this in two categories. Her work has had significant implications for many fields, particularly cancer research.

Piotr Slominski: Known as the pioneer of mitochondrial genomics, Slominski’s work in the 1970s proved the existence of DNA outside of the nucleus. This research laid the groundwork for the field of mitochondrial genomics and is still highly significant today. Slominski’s influence was not limited to mitochondrial genetics. His discovery of the enzyme maturase was key to understanding the process of splicing. He also played an important role in convincing the European Commission to sequence the yeast genome, a project that had huge implications for genomics as we know it today.

Marek Sanak: Prof. Sanak is a prominent researcher in Poland, currently Head of the Department of Molecular Biology and Clinical Genetics at the Jagiellonian University Medical College. With over 200 publications to his name, Sanak has contributed greatly to the field of genetics in Poland. Sanak’s groundbreaking research into asthma earning him various accolades such as the Lancet Investigators Award and subsequent research resulted in him being awarded the Individual Award of the Minister of Health and Welfare for Poland.

Michal Witt: Elected head of the Polish Academy of Science Institute of Human Genetics in 2021, Witt is a prominent Polish biologist based in Poznan. His work has involved contributions to a variety of fields including cancer genomics, COVID-19 research and – more uniquely – the connections between genes and music.

The future genomics landscape

The future genomics landscape of Poland seems bright, and the use of genomic medicine has flourished since the 1990s.

The Polish Roadmap for Research Infrastructures continues to facilitate research and innovation in the country, and only two years into the programme has already contributed greatly to the scientific landscape in Poland. The ongoing commitment to the roadmap should only serve to further these achievements.

Ongoing projects such as the Genomic Map of Poland are also paving the way for independence from foreign entities. In 2021, the project announced it was cutting ties with Chinese-based third parties and would be carrying out its sequencing work in-house. This is a real show of confidence in the country’s capabilities and highlights how far its technology has come.

Despite efforts to grow the field of precision and personalised medicine, one hurdle is a lack of access to high quality biomarker tests. Access to, currently very limited, precision medicine options in Europe rely on the identification of disease-causing biomarkers, yet in Poland, even those lucky enough to have a test performed and be recommended for one of these breakthrough medical interventions will often wait up to two years for their treatment, compared to around 500 days in the EU as a whole. However, there is hope that these medical interventions could become more accessible in the near future, with the opening of precision medicine clinics in the country, and the healthcare system as a whole undergoing major reform.

References

11 facts about Poland that you won’t believe: www.trafalgar.com/real-word/facts-poland/

Britannica; Poland: www.britannica.com/place/Poland

The World Bank in Poland: www.worldbank.org/en/country/poland

The State of Poland in the EU. OECD, 2017. https://www.euro.who.int/__data/assets/pdf_file/0006/355992/Health-Profile-Poland-Eng.pdf

Zaremba, J. “Genetic services in Poland.” European Journal of Human Genetics 5.2 (1997): 135-139.

Czuba, Bartosz, et al. “Implementation of the Publicly Funded Prenatal Screening Programme in Poland during the COVID-19 Pandemic: A Cross-Sectional Study.” Journal of Clinical Medicine 11.5 (2022): 1317.

Sands, Dorota, et al. “Diagnosing cystic fibrosis in newborn screening in Poland–15 years of experience.” Developmental period medicine 1 (2015): 16-24.

Kalokairinou, Louiza, et al. “Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape.” Journal of Community Genetics 9.2 (2018): 117-132.