Article written by Bethany Hanson, Science Communications Writer.

Let’s head into the Caucasus for the next stop on our World of Genomics tour, Armenia! With an alphabet that dates back to 405AD and one of the world’s oldest cities, Yerevan, Armenia is famed for its rich, ancient history. Today, Armenia is taking new steps into the world of in genomic medicine.

Fun fact: Chess is a mandatory subject for school children in Armenia!

Sharing borders with Turkey, Georgia, Azerbaijan and Iran, the country is nestled in the Caucasus Mountains. Much of the country sits on a high, volcanic plateau¹. The landlocked country has no lowlands and an average elevation of 1,800m above sea level. This unique geography creates stunning landscapes of soaring mountains cut through by deep river valleys. In the east of the country, Lake Sevan sits in the Sevan Basin, surrounded by peaks reaching 3,600m high! In the southwest the Aras River cuts across the Ararat Plain, creating rich alluvial soils and acting as a boarder for Turkey to the South¹.

Armenia has an incredibly rich history stretching all the way back to the Bronze Age, with the earliest evidence of human settlement dated somewhere between 4,000 and 2,200 BC. At this time, the area was settled by many small nations and tribes, which became the genetic foundation of the Armenian population, known as the Hayk¹.

Over the following centuries, the area was conquered Alexander the Great and later became part of the Byzantine and Ottoman empires. At its greatest point, the Armenian kingdom encompassed parts of Iran and the Middle East¹.

During World War I, the Armenian population faced direct persecution as the Ottoman government, the Young Turks, who initiated a brutal campaign to deport and exterminate the Armenian people. The Turkish authorities viewed Armenian citizens as a foreign threat aligned with pro-Christian enemies. In what became known as the Armenian Genocide, hundreds of thousands of people were driven from their homes or killed. Estimated death tolls range from 600,000 to 1,500,000. Tens of thousands of refugees fled to Russia, Syria, Lebanon, the United States and France. As a result, very few Armenians remained in their historical homeland¹.

As WW1 raged, Armenia briefly declared independence in 1918 before it became a Soviet republic in 1920. For the next 71 years, Armenia saw a period of relative stability and development but at the cost of aggressive suppression of historical Armenian culture and national ambition. In the late 20th century, the Armenians again sought independence and it was finally declared in 1991. This led to the Nagorno-Karabakh conflict with Azerbaijan, which resulted in thousands of casualties¹.

Currently, 98% of the population identify as ethnically Armenian and speak Armenian Hayeran, a unique Indo-European language. In 2011, 94% of Armenians identified as Christian, with the vast majority belonging to the Armenian Apostolic Church.

• Land area: 29,740 km²
  • Gross domestic product (GDP):
    • Total: $19.5 billion
    • Per capita:  $7,014

• Population size:  2,780,469
  • Birth rate:  12 per 1,000
  • Death rate:  13 per 1,000
  • Infant mortality rate: 10 per 1,000
  • Average life expectancy: 
    • Male: 67 years
    • Female: 77 years
  • Ethnicity:  Armenian (98.1%), Yezed (1.2%) and other groups including Kurds, Russians, Ukrainians and Assyrians (0.7%).

After gaining independence from the Soviet Union in 1991, the Armenian Healthcare system underwent a series of rapid reforms, including partial privatisation, to replace the largely centralised Soviet structure. The State Health Agency (SHA) was established in 1997, as an independent public body but was incorporated into the Ministry of Health (MOH) in 2001³.

Through the SHA, the MOH functions as the single payer and purchaser of medical services covered under the Basic Benefits Package (BBP)³. The BBP only covers “vulnerable groups” such as children, the elderly, people with disabilities, low-income families and veterans.

Despite the BBP, 85% of Armenian healthcare is currently paid for out of pocket. 1 in 5 households spend 10% of their income on healthcare and 2 of 3 people report foregoing necessary healthcare due to the cost⁴.

The WHO has reported that over the last few decades Armenia’s healthcare system has been chronically underfunded⁴. Between 1990 and 2020, hospital beds decreased by 58%³. Health spending stagnated and only accounts for a small portion of the governmental budget. Hospital interventions consume 50% of the national budget, which has left community level care either inadequate or completely absent in rural areas. Though, since 2006, primary care has been free for those covered by the BBP.

However, on the 2^nd February 23 the Armenian Government announced the start of a phased introduction to universal health insurance, starting with public sector employees⁵. This would make all healthcare free at the point of access and they aim to reach full coverage by 2027. Furthermore, in March 2023, the Armenian Ministry of Health announced they are moving forward with a restructure of their primary care system in collaboration with the WHO European Centre. The reforms aim to target workforce shortages and family medicine provision.

Leading causes of death in Armenia (per 100,000):

1. Ischaemic Heart Diseases (300.95)
2. Stroke (71.72)
3. Lower Respitory Infections (41.05)
4. Respiratory Cancers (34.81)
5. COPD (28.15)
6. Hypertensive Heart Disease (26.13)
7. Diabetes (24.13)
8. Cirrhosis of the Liver (21.18)
9. Road Injury (19.95)
10. Colo-rectal Cancers (15.87)

Currently, noncommunicable diseases account for 93% of deaths, significantly higher than the global average of 71%. WHO figures from 2016 show that 22% of Armenians are likely to die prematurely (between 30 and 69 years) from cardiovascular disease, diabetes, chronic respiratory diseases or cancer. They estimated that the economic impact of noncommunicable diseases on the Armenian economy to be 363 billion USD, equivalent to 6.5% of the country’s GDP.

A rise in unhealthy lifestyles is a main contributing factor to mortality in Armenia. In 2016, 54% of the adult population were overweight and 20% were obese. This is lower than the European averages of 59% and 23%, respectively, but has shown a consistent increase since 2000. Furthermore, smoking is very prevalent in those over the ages of 15 and especially in men. 25.5% of Armenians smoke, which is higher than the EU average of 24.7%. However, in 2020, the National Assembly of Armenia implemented new regulations restricting tobacco advertising and banning smoking in both indoor and outdoor public areas, including bars and restaurants.

Over the last two decades, Armenia implemented several national strategies aiming to improve maternal and infant care. As a result, between 2000 and 2019, maternal mortality dropped from 43 to 26 per 100,000 live births. In the same period, infant mortality dropped from 27 to 10.5 per 1,000 live births. These rates are still higher than the WHO European Region average but show consistent decline.

As part of its wider healthcare improvement plan, Armenia has been investing in hospital-based TB care and has changed protocols to create a more person-centred approach to TB prevention and treatment. These changes resulted in improved financial efficiency and allowed the reallocation of resources to further develop TB services. They aim to eliminate TB in the country by 2030.

There is currently only one health centre in Armenia that provides genetic services for direct patient care. Founded in 1998 by Armenian geneticist Professor Tamara Sarkisian and located in the capital city of Yerevan, the Centre of Medical Genetics and Primary Health Care of Armenia (CMG) provides many genomic services, including genetic counselling. Hereditary risk screening is available for a range of diseases, and they have dedicated labs for cytogenetics, molecular diagnostics, cancer genetics and the genetics of autoinflammation.

The CMG cancer laboratory’s analyses covers all of the somatic mutations of genes for targeted cancer therapies required by international guidelines. Additionally, their next-generation sequencing screens cover the 84 specific genes laid out in European Molecular Quality Network requirements as being associated with all known types of hereditary cancer⁶.

However, this facility is simply not accessible to the majority of the population. With the services only provided in the capital, those outside of the city need to travel for treatment and currently, genetic testing is very rarely used due to the high-cost of both initial testing and subsequent targeted therapy. While pre-natal testing is available, newborn sequencing is not currently available to Armenian patients.

In September 2020, a conscious push to expand the Armenian healthcare system’s knowledge of and capacity for precision medicine began. The Yerevan State Medical University hosted the programme “Twinning for the Armenian Research Infrastructure on Cancer Research” or ARICE project, which received full funding from the EU. The programme connects Armenian research institutions with world leading experts to accelerate progress in developing the country’s cancer research infrastructure.

As a result of the ARICE programme, participating European institutes provided YSMU with 71 biobanking Standard Operating procedures, which allowed the Armenian team to standardise their protocols to align with EU standards. The aim is that this will allow for sharing of biobanked data between Armenia and other EU countries⁷. Armenia has not adopted the federal act on human genetic testing⁸. However, in February 2022, the Armenian government approved the “Rules of Professional Ethics of the Healthcare Professional” in collaboration with the Council of Europe’s project on “Protection of Human Rights in Biomedicine”.

In July of 2022, the American genetics company, BostonGene opened a new facility in Yerevan. Sargis Gevorgyan, Director of BostonGene’s Armenian branch at the time, said that they chose the country due to its scientific potential. He also stated that they aim to work closely with universities to train new geneticists⁹.

Just a few months later, Illumina, in collaboration with Professor Tamara Sarkisian, opened a genetic laboratory, Genotek, aiming to provide wider private access to genetic services for Armenian patients. The laboratory will work in collaboration with the CMG by providing doctors with access to more efficient sequencing technologies and training.

While these new genomic facilities increase the availability of genomic technology, it does not currently address the cost prohibition faced by most Armenian patients. It is unclear how Armenia’s eventual universal health insurance policy will address the need for precision medicine.

• The ARICE program (Sept 2020 to Aug 2023)
  • The Twinning for the Armenian Research Infrastructure on Cancer Research (ARICE) project aims to improve Armenia’s currently limited cancer research capabilities by creating collaborations with renowned institutions: The Medical University of Graz, Austria, the International Agency for Research on Cancer of the WHO and Charles University, Czech Republic. The project was fully funded by the EU.
  • The project centers on Armenia’s Yerevan State Medical University (YSMU) and aims to enhance its capacity for clinical genetic research by improving biological sample collection and data integration for analysing chronic diseases like cancer.
  • So far, the ARICE programme has provided training to Armenian scientists and has helped bring Armenian biobanking protocols in line with EU standards. The programme also facilitated YSMU hosting an international conference; “Cancer Research and Current Molecular Testings in Application”.
• The Armenian Medical Genome Project
  • This project aims to unravel Armenia’s complex genetic background to deliver personalised medicine to Armenian patients. The project is a collaboration between UCLA and the scientific non-profit ArmGenia. This partnership was key to providing the Armenian team with modern, less expensive methods of genetic testing.
  • The project started in 2016, a year after the 100-year anniversary of the Armenian Genocide. A group of investors sought to use the resulting global attention to fund a project to map the Armenian genome. In 2020, the Promise Armenian Institute at UCLA provided further funding to allow the project to continue, with particular focus of the Artsakh population. These people had been identified as mostly homogenous, historically isolated group.
  • With nearly 50 genomes fully sequenced in 2021, UCLA professor Dr Grody stated that the next phase of the project would be to identify genomic risk for “common adult diseases that pose serious public health issues in Armenians” and to begin a “clinical aspect” to the trail. This would involve a US based genomic counsellor advising on appropriate clinical interventions.
• Clinical and genetic studies of Familial Mediterranean Fever (FMF).
  • Familial Mediterranean Fever is a hereditary auto-inflammatory disorder, which is most common in populations of Mediterranean decent – including Armenians.
  • Since 1997, many molecular genetics studies have been performed among Armenian populations to establish the genetic cause of the disease and potential treatments¹⁰. This work established specific gene mutations need for a FMF diagnosis and made it possible to predict mutation-related symptoms, opening up the potential for genetic counselling¹¹.
  • As a result of this work, Armenia’s Chief Geneticist, Tamara Sarkisyan participated in the creation of the international protocol “Guidelines for the genetic diagnosis of hereditary recurrent fevers”.
• The Atlas of the Armenian Genome
  • The consistent collaboration between research scientists for the last 20 years has resulted in a detailed genomic history of the Armenian people to be uncovered. This research has successfully traced eight millennia of matrilineal genetic continuity¹². In his book “Uninterrupted Code: Armenian Genetic History”, Levon Yepiskoposyan, a key researcher, examines how this data can be combined with historical and linguistic research and what role genetics play in Armenian identify.

Notable Organisations

• The National Academy of Sciences of Armenia
  • The National Academy of Sciences of Armenia is the highest scientific body in the country. An early form of the Academy was founded in 1919 when the University of Yerevan created the country’s first education and science centre. In 1935, this centre became the Armenian branch on the USSR’s Academy of Sciences. It was reestablished as the Armenian Academy of Sciences in 1938 and finally renamed the National Academy of Sciences of Armenia in 1992.
  • The Academy’s Department of Natural Sciences was founded in 2007. It now has 2007 staff scientists working in a wide ranges of areas including proteomics, medical screening, genetic engineering and stem cell research. The department also acts as a hub for research grants and contracts, as well as a key contact with international research organisations. They currently list as one of their main objectives as the “study of the Armenian genome including pathogenomics, immunogenomics and population genomics”.
• ArmGenia
  • The Genetic Research Charitable Trust ArmGenia is a non-profit that aims to use cutting-edge genomic research to understand ancient Armenian history, advance genomic research and deliver precision medicine to patients.
  • They receive funding from the Armenian Government, national and international charities, individual donors and grants. Their current collaboration with UCLA constitutes part of ArmGenia’s effort to create a “Living Map of Armenia”. This could be used by Armenian diaspora and nationals to trace their heritage prior to the forced displacement. The project calls for the active involvement of members of the diaspora to make their data as representative of pre-genocide Armenia as possible.
  • They also want to establish a national database of genomic data for research into personalised medicine.
• The National Association for Armenian Studies
  • Founded in 1955 by members of the diaspora living in America, the association advocates and promotes Armenian Studies at institutes of higher learning. They raise funds and support students via scholarships and sponsor cultural and educational events.
  • In addition to their work with universities and colleges, they run the Armenian Heritage Press, which subsidises and publishes literature on Armenian history, culture and language. They aim to act as a safe haven for their country’s history and culture, and to preserve this knowledge for future generations.
  • While the Association is based in the United States, it has grown to have international reach. Starting with the initial 60 founding members the Association has grown into globally recognised non-profit, which has supported and funded authors, scientists and scholars across the world.

Notable individuals

• Sos Alikhanian (1906 to 1985)
  • A Soviet Armenian geneticist who is credited as one of the founders of molecular genetics in the USSR. Between 1931 and 1948, he was a researcher at Moscow State University, after which he worked at the Kurchatov Institute of Atomic Energy until 1968. He then was appointed as the director of the State Research Institute of Genetics and Selection of Industrial Microorganisms and part-directed the national journal “Genetics”¹³.
• Professor Tamara Sarkisian
  • Dr Sarkisian founded the CMG in July 1998 and leads it to this day. She started her career as an Assistant Professor at Yerevan State University where she worked from March 1974 to November 1998. She then founded the CMG and worked as an independent researcher for Yerevan State Medical University.
  • Following the establishment of the CMG, she was appointed Chief Geneticist of the Republic of Armenia (2000-2018) and served as a member of the European Health System (1999 -2004).
  • She has advocated for and represented Armenian genomic medicine on the international stage and though founding the CRM, was the first to offer it directly to Armenian patients.
• Levon Yepiskoposyan
  • Since 2015, Dr. Levon Yepiskoposyan and his research team engaged in a project to study the Armenian gene pool across time and space.
  • He received his first doctorate in Anthropology in 1977 at Moscow State University and his second in Genetics at the Russian Academy of Science in 1989.
  • In 1993, he was appointed President of the Armenian Anthropological Society. His research integrated historical, linguistic and geographical studies to create a complex map of Armenian cultural and genomic history. His work, along with his fellow researchers’, has contributed to the continuing efforts to create a full “Atlas of the Armenian Genome”. His research is detailed in his book “Uninterrupted Code: Armenian Genetic History”, which is currently available in Armenian and Russian and is due to be translated into English.

In recent years, Armenia as seen a large, private investment to establish new genomic laboratories in the capital city, Yerevan. Alongside international collaborations, this has the potential to result in cheaper genetic tests, greater access to sequencers and more healthcare professionals being trained in genomic medicine. With the Illumina, Genotek and BostonGene labs up and running alongside the Centre of Medical Genetics and Primary Health Care, Armenia could very well establish itself as a hub for precision care and genomic research.

However, at the time of writing, the Armenian Government has not announced any policies explaining how genomic testing, precision medicine or genetic counselling will be integrated into their universal health insurance roll out.

So, while it looks likely that Armenia’s capacity for genomic medicine will improve in the next few years, this will likely not improve accessibility for most patients until cost is removed as a barrier.

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