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World of Genomics: Romania

Romania has a diverse and idyllic landscape, offering impressive geology, stunning wildlife and a rich cultural history. Much of the country is covered by the lush green hills of the Carpathian Mountains, which frame the central Transylvanian Plateau. To the east, Romania meets the Black Sea where several beach resorts can be found, including the popular tourist destination of Constanta.   

The heart of Romania, Transylvania, is synonymous with Bram Stoker’s novel, Dracula. Amongst the medieval towns, wooden churches and Gothic castles, it’s easy to see how the folk tales of vampiric creatures known as “strigoi” inspired Stoker’s writing.  

Before we jump into Romania’s World of Genomics, have you ever wondered how an organism could survive entirely on blood? Genomics can answer that!  

A 2022 study presented a detailed analysis of the genome of the common vampire bat (Desmodus rotundus) to investigate the genetic adaptations associated with surviving on a diet of exclusively blood. It was discovered that thirteen genes present in other bat species exhibited loss-of-function mutations in the common vampire bat. Two of these genes are involved in insulin secretion, a blood-sugar regulating hormone, and are likely non-functional because blood contains very little sugar. Another lost gene is associated with the inhibition of iron transport out of the bloodstream. This mutation allows the vampire bat to regulate its exceptionally high iron intake more effectively!  

Population of Romania

The country of Romania borders with Ukraine to the north, Moldova and the Black Sea to the east, Bulgaria to the south, and Serbia and Hungary to the west.

Map of Romania (Source: Canva)

The country was occupied by the Roman empire from 106 AD, during which many of its initial cities and infrastructure were established. The country’s culture is heavily influenced by the Latin culture introduced at this time. The name Romania, meaning “citizen of Rome”, was adopted in the early 19th century during the period when Romania gained independence from the Ottoman Empire (modern-day Turkey).  

Participating in both World War I and World War II, Romania initially sided with the Central Powers and later switched to the Allies. It was then occupied by Soviet troops in 1944 and became part of the USSR in 1948. The country was under communist rule from 1948 until communist leader Nicolae Ceaușescu was overthrown and killed in a revolution in 1989.  

In 1990, free elections were held, marking Romania’s transition to a democratic system. In 2004, Romania joined NATO, and in 2008 the country joined the European Union (EU). 

Geographic and Demographic Information

Summary statistics:

  • Land area: 238,397 km2
  • Gross domestic product (GDP):
    • Total: $301.26 billion (2022)
    • Per capita: $15,892.10 (2022)

Population statistics:

  • Population size: 18,956,666 (2022)
  • Birth rate: 9 per 1,000 (2021)
  • Death rate: 18 per 1,000 (2021)
  • Infant mortality rate: 5 per 1,000 (2021)
  • Average life expectancy: 76.23 (2021)
    • Male: 72.0 (2021)
    • Female: 79.3 (2021)
  • Ethnicity: 89.3% Romanian, 6% Hungarian, 3.4% Romani, 0.3% Ukrainian, 0.1% Turk, and 0.1% German (2021 Census)

Healthcare System

All Romanian citizens are required to have health insurance, which is usually acquired through the Social Health Insurance System (SHI) introduced in 1999. SHI is part of the National Health Insurance Fund (NHIF) which manages the healthcare system’s finances by collecting contributions from the working population and allocating part of the state budget to healthcare. In turn, citizens are entitled to free, unrestricted universal healthcare. 

Despite this, Romania’s healthcare system has long been ranked as one of the poorest in Europe. Government spending on healthcare is very low; in 2021 only 5.9% of GDP was spent on healthcare in Romania. Comparatively, in the same year Germany spent 13.2% of its GDP on healthcare, more than double that of Romania. The lack of funding from the state means that quality standards and safety regulations are not met, resulting in subpar care. Hospital infrastructure is very poor; in December 2020 only 310 out of 1,392 medical facilities were fully approved for fire safety. As a result, electrical faults in hospitals resulted in several deadly fires in 2021. 

Additionally, low pay and poor working conditions, such as a lack of personal protective equipment, cause a third of Romanian doctors and nurses to migrate to other countries. Those that don’t emigrate often move to private hospitals. This has led to chronic understaffing in state hospitals. Understaffing has a ripple effect on the whole system, causing longer waiting times, a lower standard of care and difficulty accessing specialist care.  

These problems are exacerbated by corruption in the system. Public healthcare may be free of charge, but out-of-pocket (OOP) spending remains high. Patients may be asked to purchase basic supplies such as gloves or syringes to receive medical procedures. There have also been reports of patients having to bribe healthcare professionals to get better or faster treatment, or to be treated at all.  

Healthcare Priorities

Life expectancy in Romania is 6 years below the EU average, but has been improving since 1950 and is projected to continue to do so. The most common cause of death in Romania is coronary heart disease, a type of cardiovascular disease (CVD). CVDs account for 59.3% of deaths per year in Romania, in comparison to a 37% average in the EU. For patients that suffer with coronary heart disease, there is only one public intervention centre in the country. Budget allocation appears to be a recurring issue throughout the healthcare sector; the government spends fourteen times less money on CVDs than that of oncological diseases and eight times less than that of dialysis.  

Other common causes of death include stroke, lung cancer and liver disease. All these conditions can be associated with poor nutrition (59% of Romanians do not consume fruit or vegetables every day), obesity (59% of Romanians are overweight, 6% more than the EU average), smoking (30% of Romanians smoke), and alcohol consumption. The four most common causes of death in Romania could be prevented by improving nutrition, increasing exercise and lifestyle choices.  

Romania also has the highest incidence of tuberculosis (TB) infections in the EU, accounting for almost a quarter of all TB cases in 2017. Infectious diseases are especially prevalent in vulnerable groups such as the homeless, drug users and prisoners. 

Romania’s government has aimed to address these issues through the implementation of a Public Health Initiatives programme, which is managed by the Ministry of Health in Romania in collaboration with Norway Grants, which contributed €8,104,000 to the programme. It involved four projects: 

  1. Targeted intervention of HIV/AIDS, Hepatitis B and C. 
  1. Eradication of TB in Romania and pre-emptive testing. 
  1. Increased immunisation and screening in the Roma. 
  1. Countering a rise in lifestyle-related non-communicable diseases such as obesity through targeted campaigns that promote better nutrition and a more active lifestyle. 

Genomic Medicine Capabilities

Genomic research emerged in Romania in the late 20th century, when the Romanian Society of Human Genomics (SRGM) was formed in 1994. CytoGenomic SRL was the first organisation to offer genetic testing in Romania in 2008. It has been offering prenatal biochemical tests since 2009 to detect pregnancies at high risk for Down syndrome and other chromosomal abnormalities and neural tube defects. This was expanded in 2011 to include Neonatal Metabolic Screening to detect 51 metabolic conditions in the early stages of pregnancy. CytoGenomic has continued to expand its services, now offering testing for pregnant women, newborns, couples with fertility problems, people with hereditary diseases and more. 

The second was The Genetic Centre in 2009, which became the largest laboratory in the country in 2017. In 2019 it was acquired by the Regina Maria health network, the second-largest player in Romania’s private medical services market. The Regina Maria health network has 42 clinics across Romania, many of which offer genetic testing, making it widely accessible to those who can afford private healthcare. 

Romania has signed and ratified the Oviedo Convention (1997) which includes Article 12 on ‘Predictive genetic tests’, stating that genetic tests can only be performed for health reasons or scientific purposes related to health reasons. Romania does not yet enforce mandatory medical supervision or restrictions on the way in which genetic tests are performed, meaning that patients taking genetic tests are not entitled to any support from medical professionals regarding their eligibility or results. However, these services are available, with 75 trained genetic counsellors currently operating in Romania. Mandatory genetic counselling may encourage genetic tests to be offered in public hospitals for those who would benefit.

Interviews conducted at the Oncology Institute in Cluj-Napoca, Romania in 2021 revealed that healthcare professionals are aware of the benefits of genetic counselling services whereas most patients and family members are unaware that such services even exist. 

Notable Projects

Romania Public Health Initiative programme: Launched in 2014, this programme was funded by Norway Grants. It aims to address Romania’s greatest health challenges and improve health care access for vulnerable groups through targeted interventions, improved immunisation and healthcare campaigns. 

European ‘1+ Million Genomes’ (1MG) Initiative: This initiative aims to “enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making.” Romania signed up for this initiative in early 2023 alongside twenty-three other EU countries, the United Kingdom and Norway. 

Partnership for Genomic Research in Ukraine and Romania (UA-RO GENOME): An 18-month project aiming to create an open-access data base of genome variation in Romania and Ukraine. Aims to identify common and rare variation in the local genomes, to detect and to describe local genome-wide population substructure to support further research. 

Development of Genomic Research in Romania (ROGEN): This project aims to develop genomic research through an integrated approach to research-development to ensure the transferability of project results in the health sector and their propagation at the national level, contributing to the achievement of the Priority 5 objective of the Health Operational Programme. 

Notable Organisations and Institutions

Iuliu Hatieganu University of Medicine and Pharmacy: Established the Research Center for Functional Genomic, Biomedicine and Translational Medicine which aims to develop projects related to human diseases, at the molecular and cellular level. 

CytoGenomic Medical Laboratory: Romania’s largest private genetic testing facility. 

Romanian Society of Human Genomics (SRGM): Established in 1994 in response to the urgent need for the establishment of the Medical Genetics network inside Romania’s health care system to resolve public health issues. 

Future Health Biobank Romania: Established in 2002, Future Health Biobank offers services such as storage of cord blood and tissue, stem cell banks for medical procedures and neonatal genetic testing. 

Notable People

George Emil Palade (1912 – 2008): A Romanian-American cell biologist. In 1955, he was the first to describe the ribosomes in the endoplasmic reticulum and is often thought of as the pioneer of the modern understanding of cell structure. He was awarded the Nobel Prize in Physiology and Medicine in 1974 for his work in electron microscopy and cell fractionation. 

Constantin Maximilian (1928 –1997): A Romanian physician, geneticist and member of the Romanian Academy. He was responsible for organising the first medical genetics laboratory in Romania in 1958 and published the Encyclopaedic Dictionary of Genetics, published in 1984. 

Future Genomics Landscape

Romania’s healthcare system is still developing; its growth severely stunted by underfunding. Many patients struggle to access basic healthcare and procedures from state hospitals, where many financial barriers are in place. The advent of private healthcare in Romania since it joined the EU has made high quality, specialist treatment (such as genetic counselling) available to the middle and upper class. This does not address the issues among poorer communities and vulnerable groups, who still suffer from high incidence of preventable and non-communicable diseases. 

Genetic counselling is widely available through private clinics and has been for about 15 years, but the same cannot be said for public hospitals. Some Romanian healthcare professionals are aware of the benefits of genetic counselling for patients. However, genetic counselling is not currently required when genetic tests are performed. Introducing mandatory genetic counselling alongside any genetic tests will greatly increase patient wellbeing and satisfaction. 

Overall, a lot of progress still needs to be made in Romania for patients to benefit from genetic counselling and genomics. Support from other countries will undoubtably be beneficial but without reform in the public healthcare system, more patients will move to private healthcare, increasing the use of genetic testing but ultimately amplifying inequality across the region. 

References

Blumer, M., et al. 2022. Gene losses in the common vampire bat illuminate molecular adaptations to blood feeding. Evolutionary Biology. Vol. 8 Issue 12.

Britannica. 2023. Romania. Available online at: https://www.britannica.com/place/Romania

Ciprian-Paul, R., et al. 2021. Evolution of Public Health Expenditure Financed by the Romanian Social Health Insurance Scheme From 1999 to 2019. Frontiers in Public Health. Vol. 9 Issue 795869.

Ciuca, A. & Moldovan, R. 2021. Developing genetic counselling services in an underdeveloped healthcare setting. Journal of Community Genetics. Vol. 12 Issue 1.

Kalokairinou, L., et al. 2018. Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape. Journal of Community Genetics. Vol. 9 Issue 1.

Keep.EU. 2023. Partnership for Genomic Research in Ukraine and Romania. Available online at: https://keep.eu/project-ext/24907/Tov%C3%A1bb%20egy%C3%BCtt%20Eur%C3%B3p%C3%A1ban%20/%20Spolo%C4%8Dne%20%C4%8Falej%20v%20Eur%C3%B3pe/

Macrotrends. 2023. Romania Life Expectancy 1950-2023. Available online at: https://www.macrotrends.net/countries/ROU/romania/life-expectancy

Romanian National Institute of Statistics. 2023. Census. Available online at: https://insse.ro/cms/ro/content/recens%C4%83minte

World Bank. 2022. Romania. Available online at: https://data.worldbank.org/country/RO

World Health Rankings. 2020. Romania. Available online at: https://www.britannica.com/place/Austria#ref33387