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World of Genomics: The Kingdom of Saudi Arabia

In this week’s World of Genomics tour, we stop at the Kingdom of Saudi Arabia (KSA). The country is home to the world’s most important Islamic sites in the holy cities of Makkah and Medina. The city of Makkah houses Masjid Al Haram (the Grand Mosque), which surrounds the Kaaba (a sacred place of gathering for Muslims that is also known as the ‘House of Allah’). Saudi Arabia is the literal centre point of the Islamic world because Muslims pray towards the Kaaba. Medina is centred around Masjid Al Nabawi, which is the mosque that was constructed by Prophet Muhammad (peace be upon him or PBUH) and is the place that he (PBUH) is buried.

The country has much to offer beyond its religious importance. Saudi Arabia has more oil than any other country in the world – a litre of water is more expensive than a litre of oil. The capital city of Riyadh hosts the largest camel market in the world. Camel meat is a very popular delicacy in Saudi Arabia. The Kingdom has recently become more open to tourism to transition away from an oil-based economy. It is home to many beautiful places such as Tiran Island, which has magnificent beaches and clear blue waters, and heritage sites such as the Masmak Fortress in Riyadh. The Kingdom has made recent investments in many sectors, including healthcare. Come and learn more about Saudi Arabia’s genomics landscape.

The population of Saudi Arabia

The KSA is the largest country in the Middle East and the 13th largest country is the world. It occupies most of the Arabian Peninsula. The country is bordered by Jordan, Iraq and Kuwait to the north, the Persian Gulf, Qatar and the United Arab Emirates to the east, Oman to the east and southeast,  Yemen to the south and southwest, and the Red Sea and the Gulf of Aqaba to the west.

Figure 1: Map of Saudi Arabia (Source: Canva)  

The origins of Saudi Arabia begin around the mid-18th century.  The country has a relatively young but rich history. Muhammad bin Saud formed an alliance with Muslim Wahabi reformers, which led to three successive Saudi Kingdoms. This includes the current Kingdom, which was proclaimed in 1932. 

The city of Makkah houses the Kaaba, where approximately 2 million Muslims perform the annual holy pilgrimage of Hajj every year during Ramadan. In 2021, only 58,745 Muslims (3% of the usual amount) were able to perform Hajj due to the COVID-19 pandemic. The government introduced additional COVID precautions to help ensure the safety of the Hajj pilgrims in 2022. The number of pilgrims was capped at 1 million and individuals who participated must be vaccinated and under 65 years old.

Saudi Arabia’s economy largely relies on its foreign workforce. In the early 2000s, between 20% to 25% of the population was made up of foreign workers. Currently, almost 40% of the population are non-Saudi. Initially, most migrants were Arabs including Yemenis, Egyptians, Palestinians, Syrians and Iraqis. More recently, non-Arabs such as Pakistanis, Koreans and Filipinos have been employed through workforce-sending contracts. Most migrants are considered temporary workers but many decide to settle in Saudi and even stay for generations.

Geographic and demographic information

Summary statistics

  • Land area: 2,150,000 km²
  • Gross domestic product (GDP):
    • Total: $833.54 billion
    • Per capita: $23,585.9

Population statistics

  • Population size: 35,340,680 (2021)
  • Birth rate: 17 per 1000 people (2020)
  • Death rate: 4 per 1000 people (2020)
  • Infant mortality rate: 6 per 1000 live births (2020)
  • Life expectancy: 75 (2020)
    • Male 2020 estimate: 74 years
    • Female 2020 estimate: 77 years
  • Ethnicities: Native born Saudi Arabs make up 60.7% of the country’s ethnic composition. The remaining composition is made up of the following ethnic groups: Syrians (9.7%), Indians (7.8%), native-born African-Asians (6.7%), Pakistanis (4.6%), Bangladeshis (4%), Egyptians (2.7%), Yemenis (2.4%) and others (1.4%).

Healthcare system

Healthcare services are provided by three main sectors in the KSA: 60% by the Ministry of Health (MOH); 23% by the private sector; 17% by other government healthcare sectors, which include university hospitals and tertiary referral centres. Saudi Arabia spends 5.69% of its GDP on healthcare (2019). This is similar to the health expenditure of other countries in the Middle East and North Africa where it is 5.4% of GDP. However, it is significantly lower than other industrialised nations in the west.

Public healthcare services are free for Saudi Arabian citizens and public sector workers. Non-Saudi nationals have mandatory health insurance, which should be arranged by their employers. Saudi Arabia’s insurance system is overseen by the Council for Cooperative Health Insurance that state that all private sector companies must provide healthcare coverage for their employees and dependents. Even though it is mandated, many companies do not provide health insurance or they provide very basic cover. As a result, non-Saudi nationals often take out additional private insurance.

Due to recent increases in the Saudi population over the last two decades, the government has sought partnerships with the private healthcare sector to help pay for and provide services. A shift to an insurance-based system for Saudi nationals is also underway.

Private healthcare plays a big role in the Saudi healthcare system. 33% of hospitals and 37% of outpatient centres are in the private sector. It also includes rehabilitation centres and specialist clinics. People often use private facilities because waiting times are shorter, there are more English-speaking staff and there is access to treatments that are not available elsewhere.  

There are four levels of care in the public healthcare system: 1) primary healthcare where basic curative and preventative services are provided; 2) general and community hospitals where diagnostic and curative services are provided through emergency departments and clinics; 3) central hospitals where advanced diagnostic, curative and surgical services are provided; 4) referral hospitals, which also take part in active research and teaching, provide specialised diagnostic, curative and surgical services. Hospital-based care is well-developed. The country has over 450 hospitals. It is relatively easy to find a doctors or a specialist in Saudi Arabia compared to other countries in the Middle East.  There were 2.5 physicians per 1000 people in Saudi Arabia in 2017. By contrast, there were 1.4 physicians per 1000 people in the Middle East and North Africa in 2017.

Health priorities

Cancer is prevalent in Saudi Arabia. In 2016, cancer contributed to 19% of deaths from non-communicable diseases. Breast, thyroid and colon are the most prevalent types of cancer (2020). A study, published in 2020, analysed the epidemiology of cancer in Saudi Arabia and highlighted several areas of improvement in cancer awareness, screening initiatives, and detection programmes.

In 2015, the Saudi MOH launched an awareness campaign for the National Programme for Early Detection for Breast Cancer. However, there was little uptake of the screening service. The Saudi Centre for Evidence-Based Healthcare developed national guidelines for colorectal cancer screening. Once again, most people did not use the screening service. A study on the use of colorectal screening services in the elderly population (published in 2018), showed that only 5.64% of the sample group used the services.

Two national surveys, published in 2019, revealed that chronic diseases were one of the Saudi population’s top public health priorities. 73% of deaths were caused by non-communicable diseases in 2019.  The leading causes of death were ischaemic heart disease followed by road injuries and stroke. The World Health Organisation (WHO) have partnered with the Saudi government to improve road safety and reduce premature deaths due to road injuries. This has led to a 35% reduction in fatalities.

The top risk factors that cause deaths due to cardiovascular diseases are a high body-mass index, high blood pressure and diabetes. The Saudi government launched the Quality of Life Programme in 2018. The programme focused on many aspects of life including fitness and preventative care to improve the health of Saudi citizens. It was expanded under the Vision 2030 national roadmap. The new objectives include promoting sports activities in the community and raising awareness against drug abuse.

The Saudi government has also taken further measures to manage the overweight and obesity public health issues. The WHO estimated that the prevalence of obesity was 33.7% and the prevalence of being overweight was 68.2% in 2016. There are many obesity prevention policies in Saudi Arabia. This includes a 50% tax on all sugar-sweetened drinks and a 100% tax on energy drinks. A traffic-light labelling system to indicate nutritional value was introduced in 2018 and calorie labelling is mandatory on all restaurant menus. Marketing unhealthy foods to under 15 year olds is restricted and there are school-based policies to regulate canteen food. 

Genomic medicine capabilities

The Saudi Ministry of Health initiated a national newborn screening (NNS) programme in 2005. The screening panels test for 16 types of inborn errors of metabolism, endocrine disorders, hearing loss and congenital heart defects. Screening is performed by 183 hospitals all over Saudi Arabia. The NNS programme is linked to an online database. This connects the hospitals, labs and physicians involved in the programme throughout the Kingdom.

Prenatal diagnostic services are offered in most tertiary centres. Single gene disorders are diagnosed mainly by chorionic villus sampling and amniocentesis. Non-invasive prenatal testing (NIPT) was recently introduced in Saudi Arabia and is provided by several centres. Although NIPT is not routinely offered on a nationwide scale, a study (published in 2021) showed that the service was very successful. High-risk cases were detected with a high level of accuracy and sensitivity.   Preimplantation genetic diagnosis is also offered. However, it is only provided in larger cities in a few private and public centres.

Consanguineous marriages are common in the Middle East. As a result, there is a high prevalence of Mendelian recessive disorders such as thalassaemia and sickle cell disease. In 2004, the MOH laughed a national premarital screening programme called the Healthy Marriage Programme. It is mandatory for couples who plan to get married. Marriage licenses are not issued without screening certificates. Couples are screened for sickle cell disease, thalassaemia, HIV, hepatitis B and hepatitis C. Those who are found to be affected or carriers are labelled as “risky couples.” They are referred to consultation clinics where they receive further advice and evaluation. The couples who proceed with marriage are educated about the risks and health complications faced by children with the disorders. In the case of infection, the spouse-to-be is informed. If the couples want to proceed with the marriage, the healthy spouse-to-be is referred to a preventative medicine clinic for further evaluation and treatment. The proportion of “risky couples” who proceeded with marriage reduced from 90% in 2005 to 73% in 2009. In November 2020, the MOH launched an online version of the service.

Various genetic services are available in Saudi Arabia. These include genotyping, expression analysis, bioinformatics, molecular karyotyping and next-generation sequencing services among others. They are mainly provided by government hospitals and research centres including King Faisal Specialist Hospital and Research Centre (KFSH&RC) in Riyadh, King Abdulaziz University Hospital (KAUH) in Jeddah and Saudi Aramco Medical Services Hospital in Dammam. Many hospitals have genetics units in their paediatric departments. The hospitals often have their own genetic specialities. The Dhahran facility mainly diagnoses chromosomal disorders and paediatric syndromes. The clinical genetics department in the Dammam Specialist Hospital specialises in breast and colon cancer genetics and epilepsy genetics. The Jeddah Armed Forces Hospital conducts screening for metabolic disorders.

There are approximately 40 certified clinical geneticists and 14 practicing genetic counsellors in Saudi Arabia. Saudi has second highest number of genetic counsellors in the Middle East. However, the average number per million people is less than 1, which means that counselling is not widely available. There are two genetic counselling Master’s training programme. They are offered by KFSH&RC at Alfaisal University and the Department of Genetic Medicine at King Abdulaziz University (KAU). The courses are accredited by the Saudi Commission for Health Specialists, which provides the practicing licences. The KSA also actively encourages training in clinical genetics and genetic counselling abroad by offering scholarships. 

Notable projects

  • The Saudi Human Genome Programme: A national project launched by the King Abdul Aziz City for Science and Technology (KACST) in 2014. The project aims to sequence the genomes of 100,000 Saudi Arabians to study the underlying basis of rare genetic diseases. So far, 61,177 samples have been tested, 3,000 novel mutations causing 1,230 rare genetic disorders have been identified and 25 gene panels have been developed. 
  • Health Sector Transformation Programme: A part of the Saudi Arabia’s Vision 2030 Roadmap that aims to restructure the healthcare system, improve co-ordination between different health sectors and promote the prevention of health risks. The programme also aims to reduce the incidence of infectious disease, reduce the prevalence of risk factors associated with non-communicable disease and strengthen epidemiological surveillance. This is through the National Centre for Disease Prevention and national laboratories, which are equipped to handle genetic diseases, human genetics and epidemiological diseases among others. 
  • Majeen: A genetic database programme established by the King Fahad National Guard Hospital (KFNGH) and the King Abdallah International Medical Research Centre (KAIMRC). Majeen is an exome database that has enabled the use of whole exome sequencing as a clinical diagnostic tool is some hospitals.
  • The Saudi Biobank: A national medical research project designed to strengthen biobanking platforms in Saudi Arabia. The project aims to enrol 200,000 participants to support genetic and epidemiological research of rare diseases, with a particular emphasis on the impact of lifestyles, genes and the environment on the Saudi population.

Notable organisations and companies

  • The Saudi Society of Medical Genetics (SSMG): A non-profit organisation established in 2009. The SSMG was the first scientific society that was set up in Saudi Arabia. The society is very active, particularly with genomic education initiatives to increase awareness of medical genetics. The society also launched its own journal in 2018 called the ‘Journal of Biochemical and Clinical Genetics.’
  • King Faisal Specialist Hospital and Research Centre’s (KFSH&RC) Genetics department: The department aims to identify genes underlying Mendelian diseases including immunodeficiencies, inborn errors of metabolism and cognitive disorders among others. The department has made numerous contributions to rare disease research, including the identification of 69 genes that were not previously associated with neurogenic disorders and the discovery of novel genes associated with various other disorders (congenital cranial dysinnervation disorder, juvenile rheumatoid arthritis, Crohn’s disease, white matter disease and microcephaly.
  • Medical Genetics Programme: A tertiary referral centre established in 2011 that is a part of the KFSH&RC. It is the main centre for diagnosis and treatment of genetic diseases in Saudi Arabia. Many services are provided through the centre including the Enzyme Replacement Therapy (ERT) Relocation programme, which allows patients to receive treatment at home. The centre also established the first independent genetic counselling service and prevention genetics programme, where family education and preventative reproductive options are explained.
  • Center of Innovation in Personalized Medicine (CIPM):  A leading centre for translational research in personalised medicine, which was founded at the KAU in 2012. The centre is specialised in preimplantation genetic screening and diagnosis as well as developing next generation sequencing panels.

Notable individuals

  • Professor Fowzan Alkuraya: Alkuraya is a Principal Clinical Scientist at KFSH&RC and Professor of Human genetics at Alfaisal University. He is a leading expert in Mendelian genetics and his lab has discovered hundreds of genes associated with genetic disorders. His seminal work includes research on human knockouts and the autozygome. He is the recipient of several prestigious awards including the William King Bowes Award in Medical Genetics and the King Salman Award for Disability Research.
  • Dr Malak Abedalthagafi: Abedalthagafi is a physician and scientist. She is a strong advocate for women in STEM in Saudi Arabia and the Middle East. She is the Founding Chair of the genomics research department and a Primary Investigator of the Saudi Human Genome Lab.
  • Dr Nadia Sakati: Sakati is a Syrian-Saudi Paediatrician who was the first clinical geneticist in Saudi Arabia. In 1978, she joined the KFSH&RC where she held many roles including Chairman of Paediatrics, Director of Genetics/Endocrinology and the Metabolic Disease Fellowship Program and Head of the Medical Genetics Section. She made several contributions to genetic diseases and is eponymously associated with three rare syndromes: Sakati-Nyhan-Tisdale syndrome, Woodhouse-Sakati syndrome, Sanjad-Sakati syndrome. 
  • Professor Pinar Ozand: Ozand was a clinician and scientist who was recruited by the KFSH&RC in 1965. Together, Ozand and Dr Nadia Sakati, established genetic services in Saudi Arabia and also initiated a clinical genetics training programme. He discovered neurometabolic diseases that were rare in the west but were common in Saudi Arabia. This laid the groundwork for future research into the presentation, genetics, treatment options, and prognosis of these diseases. Several genetic services were initiated in Saudi Arabia during his chairmanship at the genetics department of the KFSH&RC. These included tandem mass spectrometry, preimplantation genetic diagnosis, transcriptomics approaches, and molecular cytogenetics.

The future genomics landscape

Saudi Arabia’s future genomics landscape is encapsulated by the launch of Vision 2030. Vision 2030 is an ambitious national roadmap outlining the economic and social developmental actions in the Kingdom. Genetic services will be affected by the objectives of Vision 2030. This is through the Saudi Human Genome Programme, which was inaugurated by His Royal Highness the Crown Prince Muhammad bin Salman bin Abdulaziz. The national project has had many achievements (mentioned in notable projects).

The aim is to generate a Saudi genetic database that shows the frequency of genetic disorders in the Saudi Arabian population. The database will be used to develop personalised medicine practices in Saudi Arabia. Researchers will have access to a centralised database with accurate genetic data. Also, physicians will be able to accurately diagnose genetic disorders and recommend the best treatment options through the development of diagnostic and preventative tools. The project also incorporates the input of genetic counsellors who are developing genetics education-based projects for both the community and healthcare providers. Saudi Arabia has a high rate of consanguinity. Offspring from a consanguineous marriage have an increased risk of genetic disorders. Consequently, the Saudi population may greatly benefit from the genomic approach to diagnosis and treatment that is being developed under Vision 2030.