For the latest in the World of Genomics series, we go to the home of ancient Egyptians in the Arab Republic of Egypt. Although Egypt is not the first country you would think of when you think of genomic research, Egypt is actually an emerging power in the genomics space. It is also home to very rich history, making it an exciting and intriguing place to investigate genomic ancestry and evolution.
The population of Egypt
Egypt is a transcontinental country spanning the northeast corner of Africa and southwest corner of Asia. Egypt has one of the longest histories of any country – its heritage can be traced back to the 6th-4th millennia BCE (before the common era). Ancient Egypt can not only provide us with insights into the rich culture of ancient civilisation, but it also represents an ideal region to study historical population dynamics. The country has intense, historically documented interactions with important areas in Africa, Asia and Europe. This movement has given rise to an intricate cultural and genetic exchange. Modern Egypt dates back to 1922, when it gained independence from the British Empire. Since then, it has endured social, religious and political unrest. Egypt is continually modernising its economy to better serve a growing population.
Geographic and demographic information
- Land area: 1.01 million km2
- Gross domestic product (GDP):
- Total: $1.391 trillion
- Per capita: $14,023
- Population size: At the time of writing, the population of Egypt was 104,206,611 (equivalent to 1.31% of the total world population).
- Birth rate: In 2019, the crude birth rate was 25.708 per 1,000 people.
- Death rate: In 2019, the crude death rate was 5.778 per 1,000 people.
- Infant mortality rate: The crude infant mortality rate is 18.25 per 1,000 people.
- Average life expectancy: The average life expectancy in 2018 was 71.82 years.
- Ethnicity: Ethnic Egyptians account for 91% of the total population. The largest ethnic minorities in Egypt include the Turks, Greeks, Abazas and Bedouin Arab tribes in the Sinai Peninsula and the deserts to the east, as well as the Siwis in the Siwa Oasis and the Nubian people along the Nile.
As a result of modernisation efforts over the years, Egypt’s healthcare has made great progress. The healthcare system in Egypt consists of two sectors: public and private. In general, the public healthcare system is of poor quality due to lack of funding and poor staffing levels. Government investment in the public healthcare system is at just 1.5% of the country’s GDP. There are also significant differences between the availability of health services in rural areas compared to those found in big cities like Cairo. Nonetheless, the government ensures basic universal health coverage. Meanwhile, private healthcare facilities in Egypt are of high standard, with more advanced and specialised medical care. With a high population density and increasing fertility rates, the Egyptian healthcare system is met with many challenges. Over the past decade, despite its pitfalls, the Egyptian healthcare system has improved in several aspects. For example, by 2006, 95% of the population had access to primary healthcare within 5km and 98% of citizens were offered vaccinations.
Noncommunicable diseases (NCDs), including cardiovascular disease, diabetes, cancer and chronic respiratory illnesses, are the leading causes of death in Egypt. They account for 82% of all deaths in Egypt and 67% of premature deaths. There are a number of risk factors for NCDs among the adult population, including the fact Egypt has one of the most overweight populations in the world and a high prevalence of smoking.
Egypt also has the highest world prevalence of hepatitis C virus (HCV) infection, which is linked with substantial disease and economic burden. As a result, HCV elimination has become a national health priority.
Due to the high frequency of consanguinity in Egyptians, there are also a range of frequent genetic disorders, including autosomal recessive Robinow syndrome and Roberts syndrome.
One of the key challenges for the health sector in Egypt is equity in access to health services. Low investment in health has led to serious compromises in quality, safety and prevention. As a result, the burden of financing healthcare falls mostly on the poor.
Genomic medicine capabilities
With the increasing control of infant mortality due to diarrhoea and infectious disease, genetic diseases have become an increasing health priority in Egypt. The importance of medical genetics in Egypt began in the twentieth century in the paediatric department of Egyptian universities. Nowadays, human genetic courses are included in the curriculum for medical students in most Egyptian universities. Various specialised postgraduate degrees and training programmes are also available in specific institutions.
Mass neonatal screening for inborn errors of metabolism and hypothyroidism is widely available. In 2011, PerkinElmer built the world’s largest neonatal screening laboratory in Cairo.
There are also several genetic services offered through the Center of Excellence for Human Genetics. These include multiple specialised human genetic clinics (e.g., prenatal diagnosis), molecular diagnosis of prevalent and rare genetic diseases in four main categories (neurogenetic disorder, limb malformation and skeletal dysplasia, hereditary blood disorders and multiple congenital anomalies), human cytogenetics and biochemical genetics.
Due to the burial rituals of ancient Egyptians, Egypt is a hub of ancient DNA. However, contamination from handling and microbes has created obstacles to the recovery of ancient DNA. As a result, most DNA studies carried out have been on modern Egyptian populations. Genetic analyses of modern Egyptians have provided several insights, including the distribution of specific haplogroups and relationships to other populations.
In recent years, several research groups have undertaken DNA analysis of ancient mummies, largely performing mitochondrial and Y-chromosomal haplogroup analysis. Some notable studies include:
- Khairat et al (2013) were the first group to apply next-generation sequencing technology on Egyptian mummies to ascertain the ancestral lineage of an Ancient Egyptian individual.
- Schuenemann et al (2017) described the extraction and analysis of DNA from 151 mummified ancient Egyptian individuals. These samples spanned 1,300 years of ancient Egyptian history and provided insight into ancient human history.
- Gad et al (2020) used several mummies, including Tutankhamun, to provide information about the phylogenetic groups of their family members and their presence among contemporary Egyptian population data.
Last year, Wohlers et al, harnessed short- and long-read whole-genome sequencing data to assemble an Egyptian genome de novo. The team have constructed EgyptRef as a community resource.
Notable organisations and companies
- Human Genetics and Genome Research Division at the National Research Centre: Originally a department in 1976, the Human Genetics and Genome Research Division became a division in 2003. It encompasses over 200 specialist staff across eight departments including: Clinical Genetics, Human Cytogenetics, Medical Molecular Genetics, Molecular Genetics and Enzymology, Biochemical Genetics, Prenatal Diagnosis, Immunogenetics, and Orodental Genetics.
- Center of Excellence for Human Genetics (CEHG): The Center was established in 2014 having obtained a grant from the Science and Technology Development Fund. The Center is composed of the departments of the NRC Human Genetics and Genome Research Division, and its main aim is to advance the diagnosis and management of genetic diseases.
- National Society of Human Genetics in Egypt: Established by Dr Samia Temtamy in 2005, the society has several important targets including increasing awareness about human genetics, holding events to increase public and professional knowledge, encouraging students to join societal activities and enhancing national, regional and international networking.
- AGBL Egypt: AGBL Egypt is part of the AGBL group of companies, the largest biomedical distribution group in the Middle East, Africa, and Asia region. They are dedicated to bringing innovative technologies and products to researchers, clinicians, and diagnostic centres in emerging healthcare markets.
- EIPICO: EIPICO is the leading Egyptian pharmaceutical company. It also has the first Biotechnology and Genetic Engineering Research Center in Egypt.
- Dr Samia Temtamy: Temtamy was the first specialised geneticist in Egypt, having finished her PhD at John Hopkins University in the US. She later established the speciality of Human Genetics at the National Research Centre.
- Nagwa Abdel Meguid: Meguid is an Egyptian geneticist. Her work has helped identify several genetic mutations that cause common syndromes such as Fragile X syndrome and autism.
The CEHG has several future plans, including improving the diagnosis of different genetic diseases that contribute to major chronic diseases. They also hope to identify genetic mutations that are prevalent among the Egyptian population which will help with early diagnosis, prevention and management. In addition, they aim to acquire modern equipment to help train researchers on the new diagnostic technologies. Finally, they hope to increase national and international collaboration to allow mutual exchange of expertise and aid in the future of genomic medicine.
Earlier this year, Egyptian President Abdel Fattah El Sisi was also briefed on a national plan to establish a genome centre that will aim to prepare a map of the Egyptian human genome to discover and accurately determine the genetic characteristics of various diseases. This project will help Egypt enter into the era of precision medicine.
Although the recognition and integration of genomics in Egypt has been slow, it is likely that in the next decade there will be increased uptake across the country. As a result, this will yield important insights relating to Egyptian health and evolution and will aid in our ability to provide precision medicine for all.
- Temtamy SA. The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years. Annual review of genomics and human genetics. 2019 Aug 31;20:1-9.
- Temtamy SA, Hussen DF. Genetics and Genomic Medicine in Egypt: Steady Pace. Molecular genetics & genomic medicine. 2017 Jan;5(1):8.