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World of Genomics: Bulgaria

In this week’s World of Genomics, we travel to one of the oldest countries in Europe. Bulgaria has a long and rich history; the country is home to Roman ruins, the oldest known gold objects in the world and exports 80% of the world’s rose oil! 

Nevertheless, Bulgaria has the highest mortality rate in the world and one of the lowest life expectancies in Europe. How could genomic medicine fit into addressing these issues? 

The Population of Bulgaria

Bulgaria, or the Republic of Bulgaria, borders with Romania to the north, mainly along the lower Danube River. Its eastern coast is defined by the Black Sea, while to the south it is bordered by Turkey and Greece. In the southwest, Bulgaria is adjacent to North Macedonia, and to the west, it shares a border with Serbia. Bulgaria’s landscape is dramatic and varied, with four alternating bands of high and low terrain that extends from the east of the country to the Black Sea. 

Figure 1 | Map of Bulgaria. Source: Canva. 

The First Bulgarian Empire was established in 681 AD, then fell to Byzantine conquest in 1018. In the Middle Ages, Bulgaria came under Ottoman rule, which continued for almost 500 years. It was liberated in 1878 during the Russo-Turkish War, which led to the Treaty of San Stefano and established an independent Bulgarian state. 

Bulgaria participated in both Balkan Wars between 1912-1913. During World War I, Bulgaria initially remained neutral then switched, allying with the Central Powers. In World War II, the country supported Axis forces. After a change in government, Bulgaria switched sides in 1944 and declared war on Germany, leading to the Soviet occupation of the country. After WWII ended, Bulgaria remained under Soviet influence until the fall of communism in 1989. After the Cold War ended, Bulgaria underwent significant political and economic changes, becoming a member of NATO in 2004 and the European Union in 2007. 

Geographic and Demographic Information

Summary statistics

  • Land area: 110,994 sq. km
  • Gross domestic product (GDP):
    • Total: $89.04 billion (2022)
    • Per capita:  $13,772 (2022)

Population statistics

  • Population size: 6,687,717 (2023)
  • Birth rate: 8.654 births per 1000 people (2023)
  • Death rate: 15.635 deaths per 1000 people (2023)
  • Infant mortality rate: 54.21 deaths per 1000 live births (2023)
  • Average Life expectancy: 75.49 years (2023)
    • Male estimate: 68 (2021)
    • Female estimate: 75(2021)
  • Ethnicities: 84.8% Bulgarian, 8.8% Turkish, 4.9% Rom, 1.5% Other (2011 Census).

Healthcare System

Bulgaria’s healthcare system is run by the National Health Insurance Fund (NHIF), which is funded by health insurance contributions from Bulgarian citizens. Everyone that lives in Bulgaria is legally required to have social health insurance. Nevertheless, in 2019 it was estimated that 14.8% of the population, over 1 million people, may not have insurance. 

Social health insurance provides primary, secondary and tertiary care for all Bulgarian citizens, from check-ups to specialised treatments. However, most services and medications require some payment from the patient (cost-sharing). For medications and treatments not covered by insurance, patients must pay the entire cost. In fact, out-of-pocket spending is the highest in the European Union (37.8% in 2019). 

Bulgaria has faced many challenges to reform and decentralise its healthcare system, mainly due to disagreements and disputes between stakeholders.  

Private healthcare is much more advanced in Bulgaria than public healthcare. Both a higher standard of care and a wider range of services are available to patients. Due to the lack of funding and resources in public healthcare, many trained medical professionals opt to work privately. In comparison to nearby countries, private healthcare is fairly cheap in Bulgaria, making it accessible to more of the population. In 2017, Bulgaria reported the highest share of spending on private healthcare in the EU (46.6%), which is almost triple the EU average. 

To address the disparities between the public and private sectors, Bulgaria has introduced various improvements to its public healthcare system.

Health priorities

Bulgaria has the highest death rate in the world (World Health Organisation, 2015-2020), at 15.4 deaths per 1,000 people. Causes of death are dominated by stoke and ischaemic heart disease, arguably preventable illnesses that can be attributed to behavioural risk factors. Although the country has tried to reduce smoking and alcohol consumption through initiatives such as The National Programme for Prevention of Chronic Non-communicable Diseases (2014-2020), a weak enforcement of legislation and lack of information campaigns has limited its success. 

 Preventable mortality increased in Bulgaria between 2001 and 2019, at a rate of 232 per 100,000, which is much higher than the EU average of 161 per 100,000 people. This is propelled by an increase in stroke (19%), lung cancer (16%), alcohol-related disease (16%), ischaemic heart disease (15%) and accidents (15%). Deaths resulting from treatable causes are also significantly higher than the EU average; a lack of fast and effective care has driven premature deaths from stroke and heart disease.  

Despite these challenges, Bulgaria has implemented some successful health initiatives, albeit much later than other EU countries. In 2015, the Health Technology Assessment was introduced, providing guidelines for all new medicines on the positive drug list. Between 2020 and 2022, the National Health Information System introduced electronic patient records, referrals and prescription requests. The COVID-19 pandemic also stimulated the National Programme on Vaccination against Influenza 2019–2022, aiming to increase flu vaccination coverage for citizens over 65 years of age. 

Genomic Medicine Capabilities

In 2018, Bulgaria joined the European ‘1+ Million Genomes’ Initiative, which aimed to provide secure, open access to genomic and clinical data across Europe to improve research, personalised healthcare and policymaking. 

The country ratified the Convention on Human Rights and Biomedicine in 2003. Bulgarian law regulates the use of biologic materials for research purposes and genome modification and the purpose and circumstances under which genetic testing takes place. However, as of 2021 there is no law on genetic counselling, meaning that anyone who undergoes genetic testing is not entitled to professional advice on what their results mean. 

Genetic testing is not currently part of the National Health Insurance Fund but some companies and/or clinics do offer these services privately.  

In contrast, Bulgaria was one of the first EU countries to adopt a national strategy for rare diseases, in 2008. This strategy included expanding new-born screening programs and improving diagnostics of rare diseases. Newborn screening tests are available for 84 diseases and 34 genes, including 3 rare diseases (Phenylketonuria, Congenital hypothyroidism and Congenital adrenal hyperplasia). Unfortunately, when the program concluded at the end of 2013, no plan was adopted to continue this work. Furthermore, the extent to which the aims of the program have been addressed remains unclear. 

Notable projects

  • Health Technology Assessment (HTA): Introduced in 2015 to improve the efficiency of introducing new medicines to the Bulgarian healthcare system. 
  • National Health Information System (HIS): An integrated information system introduced throughout 2020-2022 that includes e-referral for inpatient and outpatient care, e-prescription, electronic patient records, registers for vaccinations, and a COVID-19 green certificate. Part of The National e-Health Strategy 2014 – 2020. 
  • National Programme on Vaccination against Influenza: Introduced in 2019 in response to the COVID-19 pandemic, this strategy aims to increase flu vaccination coverage for people over 65 – through free vaccines and vaccine awareness – to 25% by 2022. 
  • National Recovery and Resilience Plan: Funded by the European Commission to facilitate the economic and social recovery from the crisis caused by the COVID-19 pandemic. It includes several reforms to Bulgaria’s healthcare system such as the transition to digital management solutions. 

Notable organisations and companies

  • Bulgarian Association for Personalized Medicine (BAPEMED): A non-profit association established in 2014 “in service of the community, comprising scientists, medical and health care professionals, patients, service units and commercial structures in health care, which fosters the better understanding and adoption of the concept, services, and products of personalized medicine for the benefit of the patients and the health care system.” 
  • Information Centre for Rare Diseases and Orphan Drugs (ICRDOD): Established by the Bulgarian Association for the Promotion of Education and Science in 2010 to “meet the rare disease patients’ needs for reliable information and for opportunities for adequate diagnosis, treatment, follow-up and rehabilitation.” ICRDOD has developed an extensive, open-access online library on rare diseases in Bulgaria. 

Notable individuals

  • Slaveyko Djambazov, PhD: Founder and managing partner of the Health Technology Assessment. 
  • Stamen Gigov Grigorov, PhD: Bulgarian physician and microbiologist who discovered Lactobacillus bulgaricus, used in the making of yogurt. 
  • Stanimir Hasurdjiev, PhD: Chairperson of the Bulgarian Association for Personalized Medicine (BAPEMED). 
  • Professor Radka Argirova, PhD: Chairperson of the Bulgarian Association of Medical Virology and member of the Bulgarian Association for Personalized Medicine (BAPEMED).  

The Future Genomics Landscape

Bulgaria is grappling with significant challenges in its healthcare sector. Although genomic medicine will be instrumental in improving the outcomes for patients, it is apparent that the country has more basic issues that need addressing first, such as premature mortality from preventable diseases. The National e-Health Strategy 2014-2020 has implemented several projects in the country, including the introduction of electronic patient records and management systems in 2021. Additionally, this strategy may facilitate development in areas such as telemedicine, big data and cloud solutions.  

Further reforms and investments into transitioning toward a digital healthcare system are underway. Plans supported by the European Commission Recovery and Resilience Facility were approved in May 2022, valuing approximately 7,000 million EURO, 25.8% of which will foster the digital transition. 

With ongoing healthcare reforms coupled with the expansion of private genomic medicine services, it’s hoped that Bulgaria will chart a course towards improved health outcomes and a brighter future for its citizens. 

References

Council Members of the Republic of Bulgaria (2022). Национален план за възстановяване и устойчивост. [online] nextgeneration.bg. Available at: https://nextgeneration.bg/14 [Accessed 25 Sep. 2023]. 

E. Simeonov and I. Kremenski (1997). Genetic Services in Bulgaria. European Journal of Human Genetics, 5(Suppl. 2), pp.41–45. doi:https://doi.org/10.1159/000484834. 

United States Department of State. (n.d.). Bulgaria. [online] Available at: https://www.state.gov/reports/2019-country-reports-on-human-rights-practices/bulgaria/ [Accessed 22 Sep. 2023]. 

World Life Expectancy. (n.d.). Life Expectancy in Bulgaria. [online] Available at: https://www.worldlifeexpectancy.com/bulgaria-life-expectancy

worldpopulationreview.com. (2023). Death Rate by Country 2020. [online] Available at: https://worldpopulationreview.com/country-rankings/death-rate-by-country

allianzcare.com. (n.d.). Guide to Healthcare in Bulgaria | Allianz Care. [online] Available at: https://www.allianzcare.com/en/support/health-and-wellness/national-healthcare-systems/healthcare-in-bulgaria.html [Accessed 25 Sep. 2023].