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World of Genomics: Türkiye

Once a great empire, Türkiye, a mountainous country lying between the continents of Europe and Asia, is famous for its large bazaars that sell everything from spices to carpets and the presence of colourful hot air balloons in the skies of Cappadocia. Merging Eastern and Western cultures, the region is also known for its culinary delights including the delicious baklava and the sis kebap – perhaps better known as the shish kebab!

A country uniquely positioned between two geographical and culturally distinct areas, Türkiye (formerly known as Turkey) is a country that has gone through a vast amount of change over the last few centuries and is still undergoing political reform to this day.


Until the early 20th century, the region we know today as the Republic of Türkiye was part of the Ottoman Empire, a global superpower that conquered and controlled large parts of Europe, Asia and Africa for over 600 years. The Empire was defeated in the wake of World War I, and after a series of military campaigns known as the Turkish War of Independence, the people freed themselves from the remaining shackles of Ottoman rule and established the modern-day Republic of Turkey (now known as Türkiye) in 1923.

Türkiye borders eight other countries – Armenia, Azerbaijan, Bulgaria, Georgia, Greece, Iran, Iraq and Syria. It also has long coastlines looking out onto the Mediterranean, Aegean and Black Seas.

Acting as a bridge between Europe and Asia, Türkiye’s population is diverse. There has been significant immigration into Türkiye over many centuries, with the previous Empire a common destination among Muslim refugees from conquered countries. During the establishment of the Republic of Türkiye, there was a population exchange of 400,000 Greeks – with Muslims from Greece settling in the primarily Islamic Türkiye, and Christians from Türkiye taking their place in Greece. Today, over 97% of Türkiye’s population are believed to be Muslim.

Türkiye is still home to many refugees, primarily from Syria. In 2019 over half a million refugees moved to Türkiye.

Geographics and demographics information

Summary statistics

  • Land area: 783,356 km2
  • Gross domestic product (GDP):
    • Total: $815.27 billion
    • Per capita: $9,586.6

Population statistics

  • Population size: 85 million (2020)
  • Birth rate: 16 per 1000 (2020)
  • Death rate: 5 per 1000 (2020)
  • Infant mortality rate: 8 in 1000 (2020)
  • Average life expectancy:  78 (2020)
    • Male: 75 (2020)
    • Female: 81 (2020)
  • Ethnicity: 65% Turks, 19% Kurds, 7.2% Crimean Tatar, 1.8% Arab, 1% Azerbaijani, 1% Yoruk, 5% other.

Healthcare System

Universal healthcare was initially introduced in Türkiye in 2003 in the wake of major changes to the country’s political landscape. Succeeding the previous insurance-based model, the new system was the result of years of reform and commitment to healthcare for all. Individuals pay a portion of their income to a social security scheme to fund the system, in return for care that is mostly free at the point of use. Anyone who is unemployed or self-employed can pay directly to the fund on a means-tested basis. Although certain treatments require out-of-pocket payment, those in vulnerable groups (such as pregnant women and those with chronic conditions) receive these cost-free. Compared to the late 20th century, life expectancy in Türkiye has increased to 78 from around 68, infant mortality has significantly reduced, and as of 2012 over 98% of the population have access to healthcare.

Despite substantial improvements, the system still has its flaws. Türkiye spends the lowest amount of money on healthcare of all Organisation for Economic Co-operation and Development (OECD) member states and a significant proportion of the population obtain care privately. The country has also faced criticism over the treatment of nursing personnel. Mental health care also requires improvement, with reports of staff lacking the appropriate knowledge and skills. However, since the reforms were introduced, the overall state of the healthcare system is generally positive, with high levels of patient satisfaction and positive financial implications for low-income households.

In contrast, Türkiye has a reputation for providing excellent care in a variety of specialist fields, particularly laser-eye surgery and cosmetic procedures, with these aesthetic procedures attracting many people from abroad.

Healthcare Priorities

The most common causes of death in Türkiye are strokes and ischemic heart disease, with a significant proportion of deaths attributed to non-communicable diseases. Unlike many other countries, Türkiye is not faced with the problem of an aging population, with the average age in the country only 30. This likely contributes to the lower public expenditure on health. However, improvement to Türkiye’s healthcare system has been followed by an increase in life expectancy and this will likely pose a challenge in the future as the country’s demographics change.

Tobacco use is a significant contributor to health problems in Türkiye, ranking 24th on the list of countries with the most smokers. This is despite huge effort since 2008 to decrease this number, with a smoking ban in all indoor places implemented by 2009. Türkiye was only the third country in the world to prohibit tobacco use in this way. Free support is available to those wishing to quit smoking, and in early 2022 the government launched the “Quit Smoking, Start Changing in 24 Hours” scheme aimed at young people who wish to kick the habit.

Another significant health challenge in Türkiye is obesity. Around 30% of Turkish adults are classed as obese. This number is increasing steadily in younger age groups, causing financial burden on the healthcare system. This is linked to unhealthy dietary habits and alcohol use in the country, with sugar intake higher than in comparable nations in part due to a lack of regulatory measures.

Türkiye also suffers from high levels of air pollution, with thousands dying each year from illnesses attributed to exposure to toxic fumes. The country has fallen below EU standards in this regard, and vehicle usage in the country continues to increase.

Genomic Medicine Capabilities

Genomic testing in Türkiye can be obtained primarily via the public healthcare system or in certain cases through a private provider. Despite the availability of testing, the country’s capabilities in this regard tend to fall behind other comparable nations.

The risk of genetic birth defects is high in Türkiye, due in part to a high rate of consanguineous relationships – that is, relationships between relatives. To combat this, significant effort was made during health care reforms to increase access to and enhance the uptake of prenatal screening and genetic testing in newborns. Over 95% of parents opted for testing as of 2008, with the number believed to have risen even further since. However, only a limited number of diseases are tested for, with five currently investigated as standard. The country will soon be adding extra tests to the standard newborn screening process, with the inclusion of a test for spinal muscular atrophy. All pregnant women are offered basic testing for Down’s syndrome, with those deemed high risk referred for more robust examinations. The healthcare system also offers premarital screening to decrease the incidence of beta thalassemia and sickle cell anaemia, two prominent conditions in the population.

Genetic counselling has no legal standing as its own profession in Türkiye and there are no formal training programs. Although counselling is still offered to patients, the work is typically carried out by primary care physicians or other medical staff who do not specialise in genetic counselling. This has led to criticism over the way individuals receive information about their own or a family member’s illness.

The implementation of laws surrounding personal data protection has led to concerns regarding the handling of genetic test results. Türkiye is now looking into how to successfully integrate genetic data into electronic health records in a secure and meaningful way.

Notable Projects

Turkish Genome Project: A project spearheaded by the Health Institutes of Türkiye, the Turkish Genome Project was implemented in 2017 and aims to sequence 100,000 genomes by 2023. Research using data obtained during the project will focus on chronic hereditary diseases and familial cancer syndromes.

Turkish Variome: The Turkish Variome is a database of genetic variation within the Turkish population, published in 2021. It’s the first of its kind to include a large number of Turkish individuals, meaning more meaningful results can be derived from the data. The database contains genetic data from over 3,000 volunteers and will be used in population genomic studies.

Turkish National ERA Roadmap: This is a large-scale project and plan to assist in the development of research infrastructure in the country. Aiming to further the relationship between Turkish researchers and those in other European countries, the roadmap has been vital in the accreditation of various institutes such as Izmir Biomedicine and Genome Centre.

Notable Organisations

Istanbul University: Founded in 1453, Istanbul University is Türkiye’s oldest University. Consistently ranking highly in national and international league tables, the University has produced many prominent figures, including Aziz Sancar – Türkiye’s first and only winner of the Nobel Prize in Chemistry and whom the University’s Institute of Experimental Medicine is named after.

Health Institute of Türkiye (TUSEB): TUSEB was founded in 2015 as part of major reform of the landscape of Turkish healthcare. The Institute comprises nine research centres focusing on a variety of topics including cancer, vaccines and health data, and has provided funding to projects such as the Turkish Genomes Project.

Izmir Biomedicine and Genome Centre: IBG is a research facility existing for the purpose of driving forward research into diagnosis, treatment and prevention of disease. The centre offers training opportunities and research support for those in both the private and public sectors.

TUBITAK Genetic Engineering and Biotechnology Institute (GEBI): The only publicly funded biotechnology research centre in Türkiye, GEBI specialises in developing biotechnology for not only medical reasons but also for the agricultural sector.

Notable People:

Aziz Sancar: Aziz Sancar is a renowned Turkish molecular biologist who won the 2015 Nobel Prize in Chemistry in for his research into DNA repair. His work on the human circadian rhythm has contributed to our knowledge of jetlag and seasonal affective disorder.

Munis Dundar: A well-known Turkish geneticist, Munis Dundar is credited with the discovery and characterisation of multiple genetic disorders. He is currently the President of the European Biotechnology Thematic Network Association.

Naside Gozde Durmus: Naside Gozde Durmus is a successful Turkish researcher, currently working at Stanford University in California. Her work has focused on the development of nanotechnology tools for the treatment of disease and earned her a place on MIT’s Top 35 Innovators Under 35 list.

Future Genomics Landscape

There is a huge ongoing commitment to better healthcare for all in Türkiye, and with this comes improvement in the genomics landscape. With the anticipated completion of the Turkish Genomes Project next year, more will be learned about the incidence of disease in the country. The knowledge gained from the project will help to combat common genetic conditions. The introduction of additional newborn screening tests will better inform paediatric healthcare. Consanguineous marriage is also now decreasing in Türkiye, which will decrease the rates of autosomal recessive conditions within the population.

As for research innovation, a training package to assist with the implementation of bioinformatics and molecular epidemiology is under development following a meeting of experts from the Turkish Ministry of Health and the World Health Organisation (WHO) in Ankara earlier this year. This collaboration between the Turkish government and the WHO aims to increase Türkiye’s capacity to perform genomic research.


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