Genetic Disease: A Definition
Genetic diseases are caused by mutations of genes. Each individual has more than twenty thousand genes. When one or more of these genes have mutations and are abnormal, a disease can be triggered. We both carry two copies of almost all genes, inherited from each parent. If parents carry the same abnormal gene, the child has a high risk of carrying the disease linked to this abnormality. Most carriers of genetic disease are not aware of it and are asymptomatic.
People in the Middle East have a distinct genetic profile from Europeans or Caucasians.
Genetic Diseases in the Middle East
Over the last decades, Arab countries have made significant progress and reforms to their healthcare systems. Infectious diseases and child mortality have been reduced while life expectancy is on the rise.
On the other hand, genetic and congenital disorders still cause a large proportion of natal and neonatal mortalities.
According to Dubai-based Centre for Arab Genomic Studies (CAGS), the Arab countries contribute approximately USD 30 billion per year to their populations’ suffering from hereditary genetic diseases.
Factors such as culture and traditions, a typically large Middle Eastern family size, paternal age and maternal tendencies to bear children up to menopause link to the incidence of morbidity, infant death, malformations and handicaps in the region. Author Dhavendra Kumar in “Genomics and Health in the Developing World” (2012) argues on genetic research in the Arab world, stating that, “usually local efforts, mostly exerted by medical practitioners and clinical geneticists who have developed a particular expertise… Databasing prevalence data as well as the molecular pathologies leading to genetic disorders in Arabs offers solid groundwork to promote proper education in the field and employ knowledge-driven development to address urgent regional health needs.”
Genetic Disorders in the Middle East
Pharmaceutical companies and researchers recognize the importance of early genetic testing to identify and ultimately decrease the devastating impacts of genetic disease upon nations and families.
According to an article published by CAGS, “significant genetic diseases or birth defects may affect approximately 3 percent of all pregnancies, account for up to 30 percent of pediatric hospital admissions, and cause about 50 percent of childhood deaths. In addition, recessively inherited disorders represent approximately 20 percent of single gene disorders.” Consanguinity, or marriage between close relatives, continues as a social practice in some populations. High consanguinity rates estimated from 25 to 60 percent affect national health spending and outcomes. In Saudi Arabia as an example, marriages amongst first-degree cousins still account for 60-70% of all marriages, leading to disorders that are rare in the western world.
Genetic Epidemics in the Arab World
The CAGS database (CTGA) records diseases or “phenotype” records occurring in Arab persons. As of October 2006, the CTGA database had indicated the presence of 774 phenotype entries in Arab patients caused mainly by recessive genes. The most commonly occurring phenotypes include single gene disorders (including hemophilia, thalassemia, metabolic disorders, sickle cell disease, and glucose-6-phosphate dehydrogenase deficiency); chromosomal presentations (including Turner Syndrome and Down Syndrome); and disorders with multiple factors (including diabetes, obesity, arteriosclerosis, hypertension and coronary artery disease.
CAGS cites diabetes, sickle cell disease, hypertension and thalassemia (particularly alpha-thalassemia) as continually growing concerns. The diseases have reached epidemic status, according to CAGS.
Research and Genetic Disease Programs in the Middle East
Genetic services in the Arab world are growing. Nevertheless, treatments remain either absent, difficult and costly. Despite several government initiatives and increased awareness amongst the general public most of these have focused on prevention, risk-assessment and early recognition. Several national screening programs have been launched in the region since the mid-1990’s for specific diseases such as phenylketonuria (PKU), congenital hypothyroidism, thalassemia and sickle cell disease.
Prevention decreases the financial and family toll extracted by genetic disorders. Early identification and treatment supports both prognosis and patient outcomes. Oman, Saudi Arabia, the UAE, Jordan, Lebanon, Tunisia, Bahrain, Egypt and Qatar have developed national genetic screening initiatives for infants. The programs screen for a minimum of one and a maximum of 23 genetic disorders.
Screening of family members is also employed by the Arab nations’ public health initiatives. Consanguity and resulting clusters of genetic disorders in populations, increases awareness and education about genetic diseases. Genetic counseling and testing screening offered to couples before the conception of children is another tool used throughout the Arab world. Studies have shown that even when the risks are higher the large proportion of couples continue to marry and bare children. Genetic potential for disorders of the blood, such as hemoglobin disorders, may be identified in this manner. Rare disorders, such as those limited to a specific locale or family, demand clinical observation and research to accomplish treatment or cure.
Incidence of Congenital Malformations
According to the Gulf Cooperation Council – UAE, KSA, Oman, Bahrain, Qatar and Bahrain–congenital handicaps and malformations represent the second highest cause of infant death. In Saudi Arabia, approximately 30 percent of all perinatal deaths result from congenital malformations.
Education, media and public awareness are key to change matters and to familiarize people with the multitude of initiatives across the region. Observation of both macro and micro-genetics is the first step towards collecting the hundreds of thousands of genetic variations to facilitate research and develop cures for gene-transmitted disorders. Initiatives such as the CAGS in the UAE are a major step forward. Further collection of data and studies are needed to increase the knowledge and to improve risk management.