Community genetic services in Arab countries

Hamamy, Hanan

Middle East Journal of Medical Genetics:
doi: 10.1097/01.MXE.0000422777.67364.e5
Review articles

The science of genetics and its potential applications in medicine have progressed very rapidly in the last three decades. To provide equitable access to quality genetic services for all those in need is a challenge to any country. Community genetic services including newborn and carrier screening for common autosomal recessive disorders are offered in a number of Arab countries, though these services are sometimes patchy and do not cover the whole population. Genetic centers have been established in most Gulf countries and other middle income countries such as Tunisia and Egypt. In high-income gulf countries, infant mortality rates have fallen to below 15/1000, which highlights the importance of targeting congenital disorders as a major component in infant mortality. Strategies to implement programs of community genetic services could vary in different Arab countries depending mostly on the economic status of the country, the availability of healthcare providers trained in genetic counseling, and on existing diagnostic services. In general, these strategies do not necessarily require sophisticated technical facilities but are primarily based on comprehensive population screening services, strengthening the education and training of healthcare providers in community genetics, and on increasing public awareness.

Author Information

Department of Genetic Medicine and Development, Geneva, Switzerland

Correspondence to Hanan Hamamy, Department of Genetic Medicine and Development, Geneva University, 1211 Geneva, Switzerland Tel: +417 92813667; fax: +41 22 379 57 06;e-mail:

Received June 21, 2012

Accepted June 28, 2012

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Arab countries comprise the 22 states and territories of the Arab league, stretching from the Atlantic Ocean in the west to the Arabian Sea in the east and from the Mediterranean Sea in the north to the Horn of Africa and the Indian Ocean in the southeast. It has a combined population of around 350 million people, with over half under 25 years of age (Table 1). Arab countries can be classified according to their global human development levels into low, medium, and high categories, with large social and health inequities between and within individual states. Economic deficits in some Arab countries impede human development, with evident paucity of scientific research and health services in such countries.

Incidence and prevalence rates of congenital disorders could be influenced by the demographic and cultural characteristics of the population. Arabs get married at a young age and have large family sizes and advanced maternal and paternal ages. Consanguineous marriage is customary in most, if not all, Arab communities, and intrafamilial unions currently account for 20–50% of all marriages. First cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries (Hamamy and Bittles, 2008; Bittles, 2011).

Arab countries face major challenges in providing comprehensive community-based and up-to-date medical services in a rapidly advancing field such as genetics.

Community genetic services involve a multitude of different approaches with the ultimate goals of minimizing the birth of severely affected children, better management of patients through a combination of basic public health measures, and the education and involvement of the primary healthcare providers.

Community genetic services include population screening programs such as newborn screening, carrier screening for common autosomal recessive disorders, and prenatal screening; preconception and premarital counseling; integration of quality genetic services into primary healthcare; education and training of primary healthcare providers in the basic principles of preconception and prescreening counseling; increasing the genetic literacy of the public; developing birth defects registries; and management and rehabilitation of affected individuals, with consideration to the ethical, legal, social, and cultural issues in the population (Ten Kate et al., 2010).

In view of the good coverage of the primary healthcare system in most Arab countries, community genetic services could be markedly strengthened by the efficient training and education of primary healthcare personnel (Hamamy and Bittles, 2008; World Health Organization, 2010). The population in general should be informed, educated, and communicated with through different channels that include school curricula, primary healthcare clinics, and messages through the media.

Birth defects or congenital disorders are defined as structural or functional abnormalities, including metabolic disorders, that are present from birth, whether recognized at birth or later (World Health Organization, 2006; Christianson et al., 2009). The etiological categories of congenital disorders include single gene disorders, chromosome abnormality syndromes, and multifactorial disorders, as well as the anomalies caused by in-utero environmental teratogens or micronutrient deficiencies. The five most serious and prevalent birth defects that constitute about 25% of all disorders include hemoglobin disorders (thalassemia and sickle cell anemia), Down syndrome, neural tube defects, congenital heart defects, and glucose-6-phosphate dehydrogenase (G6PD) deficiency (Christianson et al., 2009). The different categories of congenital disorders present different approaches for their feasible care and prevention.

Despite the important progress made by health authorities, academic medical institutions, and the private sectors in introducing selected genetic services over the last decades in some Arab countries, such services in many countries remain patchy, selective, and inadequate with failure to provide national coverage.

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Need for developing community genetic services in Arab countries

In the past three decades, a number of interventions aiming at the early detection, prevention, and management of health problems caused by genetic factors have been implemented in high-income countries. These developments have been facilitated by new or improved diagnostic technologies. With the exception of few, most Arab countries have been lagging in the implementation of public policies for the care and prevention of congenital disorders.

Available evidence suggests that congenital disorders are responsible for a major proportion of infant mortality, morbidity, and handicap in Arab countries (Alwan and Modell, 1997; Teebi and Farag, 1997; Al-Gazali et al., 2006; Christianson et al., 2009; Afifi et al., 2010). The Arab population is characterized by large family size, advanced maternal and paternal age, and high levels of inbreeding, with consanguinity rates in the range of 25–60% (Hamamy and Bittles, 2008; Tadmouri et al., 2009; Teebi, 2010; Hamamy et al., 2011). Certain disorders such as hemoglobinopathies, G6PD deficiency, different congenital malformations caused by recessive genes, and several metabolic disorders are common throughout the Arab world (Al-Gazali et al., 2006). Studies on the birth prevalence of ‘severe’ congenital disorders that are lethal or cause lifelong impairment if untreated indicated that of the six WHO regions, the highest rate of greater than 65 affected children/1000 live births was reported in the Eastern Mediterranean Region, which includes all Arab countries except Algeria (Alwan and Modell, 2003). These figures were supported by the recent global report of the March of Dimes, which estimated birth defects to be greater than 69.9/1000 live births in most Arab countries, as opposed to less than 52.1/1000 live births in Europe, North America and Australia (Christianson et al., 2009).

Several factors could contribute to the high rates of congenital disorders in Arab countries including the general low availability of public health measures directed at the care and prevention of birth defects, the dearth of genetic services, inadequate healthcare before and during pregnancy, and the high prevalence of hemoglobinopathies with population carrier rates of 2–7% for β-thalassemia, 2–50% for α-thalassemia, 0.3–30% for sickle cell disease, and 2.5–27% for G6PD deficiency in different countries (Hamamy and Alwan, 1994; Alwan and Modell, 1997; Teebi and Farag, 1997; Al-Gazali et al., 2006). Another factor contributing to the increase in the expression of recessively inherited diseases could be that consanguineous marriages are favored in most, if not all, Arab communities, with intrafamilial unions currently accounting for 20–50% of all marriages. First cousin unions are especially popular, in particular the paternal parallel subtype (Bint Al Amm) (Tadmouri et al., 2009). In addition, the large family size in many Arab countries may contribute to the increase in the number of affected children in families with rare autosomal recessive conditions. Moreover, in many Arab countries, women continue to conceive to an advanced age, which increases the predisposition to chromosomal trisomies such as Down syndrome, with birth rates for Down syndrome reaching 2/1000 in Oman and UAE (Sawardekar, 2005; Murthy et al., 2007).

Over the past and at present, the availability of genetic services in Arab countries has been impeded by the paucity of resources with the presence of other competing priorities, such as the need to control communicable diseases and noncommunicable chronic disorders such as cardiovascular diseases, cancer, and diabetes, in addition to the insufficient numbers of trained healthcare professionals in this field of medical genetics. Moreover, many Arab countries do not possess adequate data on the real magnitude, health burden, and economic burden of congenital disorders that could encourage the Ministries of Health to initiate community genetics services particularly linked with the misconceptions that the control of common congenital disorders is too expensive and always needs sophisticated high-end technology, limiting its introduction to the general public. Genetic literacy is generally low, both among the healthcare providers and among the public, with lack of awareness on genetic risks and possibilities for prevention of congenital disorders. In Arab countries, community services may be further restricted by certain cultural, legal, and religious limitations such as the cultural fear of families with genetic diseases to be stigmatized within their community and the legal and religious restrictions on selective abortion of an affected fetus.

Currently, there is a need to develop and strengthen comprehensive national initiatives for basic community genetics in Arab countries considering that in many countries, the infant mortality rates have markedly declined (Table 1). It is well known that when the infant mortality rate declines the proportion of deaths due to congenital disorders becomes higher and that to further lower the infant mortality rate it is important to address effective care and prevention measures for such disorders. Arab countries in general possess good coverage of reproductive and other primary healthcare programs in which community genetic services can be feasibly integrated. Moreover, the high rates of hemoglobinopathies and other single gene disorders in some countries indicate the great potential of establishing cost-effective care and prevention programs. Examples of the success of such programs in reducing the burden of these disorders are available from Bahrain, Cyprus, and Iran (Samavat and Modell, 2004; Bozkurt, 2007; Khorasani et al., 2008; Al-Arrayed and Al-Hajeri, 2012).

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Prerequisites for developing community genetic services in Arab countries

To initiate a nationwide intervention program for any health problem, there are two prerequisites. The first is to identify priorities through evidence that the magnitude of the health problem is significant and the second is an indication that care and prevention interventions are both feasible and cost-effective. The strategies adopted to achieve these objectives should be carefully selected to match the unique demographic, cultural, and religious characteristics of the population.

Reliable epidemiologic and burden of diseases data collection and development of a situation analysis report would help in focusing on priorities in planning and implementing community genetic services at the primary healthcare level. Further, data on the current extent and functioning of community genetic services, manpower, and laboratory facilities in a country should be available. It is crucial to convince policymakers, who in Arab countries usually belong to the Ministries of Health, that such services are important, needed, and requested by the public. Furthermore, financial resources that are needed for funding and planning such programs should be available. Formation of a national committee and designating a dedicated focal person is helpful for planning community-based care and prevention programs for birth defects.

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Current community genetic services in Arab countries

In general, the published data on genetic services in Arab countries is quite scanty, and information on the facilities available in local or international journals is minimal.

Genetic services in Arab countries generally comprise referral centers that offer genetic counseling and diagnostic facilities. Some countries have initiated newborn screening programs for congenital hypothyroidism, phenylketonuria, and few other disorders, as well as premarital screening programs for carriers of hemoglobinopathies. Few countries have functioning birth defect registries.

In many Arab countries, ultrasound fetal scanning is routinely performed for any pregnant woman during her first antenatal visit. Testing maternal serum markers early in pregnancy is offered by some obstetricians, but it is not mandatory.

Some countries have initiated a national strategy for the care and prevention of congenital disorders. For example, in Jordan, a proposal for a national strategy for the care and prevention of congenital disorders was prepared in 2005 through collaboration between the Ministry of Health, the WHO country office, and the genetics specialist in Amman. The different strategies of the program that were successfully implemented included newborn screening for congenital hypothyroidism and phenylketonuria, premarital carrier screening for β-thalassemia (Hamamy and Al-Hait, 2007), and training courses for primary healthcare providers in the principles of basic genetic counseling. A birth defects registry was started as a pilot study in some hospitals but encountered a number of problems that impeded the initiation of a national registry.

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Newborn screening

Several Arab countries have newborn screening programs that have provided sound data on the incidence of several diseases including hemoglobin disorders, G6PD deficiency, congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, phenylketonuria, and other metabolic diseases (Saadallah and Rashed, 2007).

The national newborn screening program for hemoglobinopathies in Bahrain was started in May 2007, financed by the national budget, with 38 940 newborns screened since its implementation (Al-Arrayed and Al-Hajeri, 2012).

Egypt has a national screening program for congenital hypothyroidism that covers over 75% of the newborn population; a total of 4 778 549 neonates were screened for congenital hypothyroidism and the overall incidence of hypothyroidism in newborns was 1 : 2020 (Saadallah and Rashed, 2007).

Saudi Arabia and Qatar have introduced expanded newborn screening programs. The program in Qatar screens for over 23 metabolic diseases and congenital hypothyroidism (Lindner et al., 2007). Saudi Arabia launched its national expanded newborn screening program in 2005 and includes testing for more than 12 metabolic conditions; the list is increasing in size (Saadallah and Rashed, 2007).

Newborn screening for hearing impairment has been introduced in some Arab countries. For example, in Oman, universal hearing screening at a national level showed that among 21 387 newborns, 1.2% had hearing impairment (Khandekar et al., 2006).

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Carrier screening

Carrier screening programs should be strictly voluntary and there should be no pressure of any kind on anyone to be tested or to take any specific steps after results are delivered (such as marrying, planning a pregnancy, undergoing prenatal diagnosis, continuing or terminating an affected pregnancy). Carrier screening programs and the associated services should be implemented in a manner that respects the population’s religious and cultural views.

Community programs for premarital screening to detect carriers of hemoglobinopathies have been initiated in a number of Arab countries including Bahrain, Jordan, Oman, Palestine, Saudi Arabia, Tunisia, and the UAE. One of the problems that this program faces in some countries is that healthcare providers need to be trained and educated on basic genetic counseling and referral of couples at risk to specialized genetic clinics.

The Bahrain campaign for hereditary blood disorders included education and public awareness events, as well as carrier screening at different ages followed by genetic counseling. Student screening for genetic blood diseases in Bahrain, which started in 1999, covered about 50 000 students. As a consequence of extensive efforts continuing over the past 20 years, birth rate of individuals with sickle cell disease has declined from 2.1 to 0.9% (Al-Arrayed, 2005).

In 2000, Gaza adopted a program of obligatory premarital screening for β-thalassemia carriers in which 19 at-risk couples were diagnosed among the 19 712 couples screened. Of those, 14 couples decided not to get married. A reduction in the birth of children with β-thalassemia major was reported (Tarazi et al., 2007).

In Saudi Arabia, in 2004/2005, among a total of 488 315 individuals screened for hemoglobinopathies, 4.2% had the sickle cell trait, 0.26% had sickle cell disease, 3.22% had the thalassemia trait, and 0.07% had β-thalassemia major. Among the 207 333 couples issued certificates for matching, 2.14% were declared to be at high risk. Among the 2375 high-risk couples, 90% proceeded with their marriage (Alhamdan et al., 2007).

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Birth defect registry

The only Arab country that currently has a functioning national birth defect registry is the UAE. The National Congenital Anomalies Register in the UAE is a population-based register covering all births in the UAE that was launched in all medical districts in January 1999. Reported data are critically evaluated and coded at the Department of Maternal and Child Health in the Ministry of Health (Al Hosani et al., 2005).

A national register of symptomatic hemoglobinopathies has been developed in Oman to facilitate the development of the national program for the control of genetic blood disorders (Rajab et al., 2000).

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Prenatal screening

In most Arab countries, ultrasound fetal scanning is routinely performed for any pregnant woman during the first antenatal visit. This technique that can diagnose major congenital malformations and some chromosome aneuploidies is usually performed without providing any pretest information to the couple on the possibility of finding an abnormality and with no explanation of the consequences. Screening for maternal serum markers is performed in most Arab countries but not in a systematic manner. Some Arab countries are now recommending the introduction of community genetic services at the primary healthcare level and performance of screening for maternal serum markers in the first trimester as part of the antenatal care. If the results of the test suggest an abnormality, then, for the screening test to be effective as a preventive measure, it should be followed by additional diagnostic techniques. If the fetus is affected, the couple has to decide whether to terminate or continue the pregnancy. The religious and legal stance for selective termination is variable in Arab countries. Moreover, the number of experienced genetic counselors who can interpret the abnormal findings from fetal scans and biochemical markers and offer appropriate counseling and risk figures are few. These issues are the main impediments for the initiation of a program for prenatal genetic screening.

There are limited published data on periconceptional genetic counseling at the primary healthcare level in Arab countries. The provision of this service probably depends on the training of primary healthcare providers in community genetics, which is mostly limited in many Arab countries.

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Prenatal and preimplantation genetic diagnosis

Many cytogenetic laboratories in Arab countries are capable of diagnosing chromosome aberrations in fetal cell cultures whether through amniocentesis or chorionic villi sampling. Not many Arab countries have adequate molecular genetic laboratory services. Although still uncommon, the choice of prenatal diagnosis with selective termination of an affected fetus is a slowly evolving option in some Arab countries, with various religious and legal positions on selective termination. In Tunisia, selective abortion of an affected fetus is permissible under civil law (Chaabouni et al., 2001). Prenatal diagnosis for β-thalassemia in Egypt gave a selective pregnancy termination rate of 36.3% (Elgawhary et al., 2008). In contrast, a study from the West Bank and Gaza indicated that all couples with affected fetuses opted for abortions (Ayesh et al., 2005).

Preimplantation genetic diagnosis is welcomed in Arab countries as it does not involve the much dreaded decision of pregnancy termination. However, the procedure is still in its early stages, with many limitations, and is only available at a small number of centers such as in Saudi Arabia (Hellani et al., 2008; Qubbaj et al., 2011). Preimplantation FISH technique for diagnosis of some numerical chromosome aberrations such as trisomy 21, 13, and 18 and sex chromosome aneuploidies is feasible in a number of laboratories in Arab countries.

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The considerable challenge posed by congenital disorders in Arab countries calls for the development of care and prevention programs through the establishment of community genetic services. The strategies do not necessarily require sophisticated technical facilities but are primarily based on development of newborn and carrier screening services, strengthening the education and training of healthcare professionals, and increasing public awareness. The demographic data suggest that the healthcare system in many Arab countries is capable of introducing some basic community genetic services into the primary healthcare programs. Moreover, middle and high income Arab countries could work to develop the standard of diagnostic genetic services in accordance with the molecular revolution that characterized the last three decades.

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Conflict of interest

There are no conflicts of interest.

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Arab; community genetics; congenital disorders; genetic screening

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