As with all actions promoting and maintaining health and preventing disease, genetics services in a particular community must define their objectives and methods according to the local epidemiology, need assessments, demands of the population, health system infrastructure and budget.
The occurrence of congenital disorders and genetic diseases in a population, with its share of ill health, suffering and premature death, prompts the need for actions and services to treat the affected and prevent the occurrence of these conditions in the community.
In the past three decades, a number of interventions aimed at the early detection, prevention and care 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. In contrast, low- and middle-income countries have been behind in their implementation of public policies for the care and prevention of congenital disorders (WHO 2006).
The need and relevance for genetics services, therefore, has to be weighed in its priority and scope with the many other needs for curative and preventive health services in a particular population. In addition, the need may not be perceived until new knowledge and technologies appear to address the issues that congenital disorders and genetic diseases pose to individuals and society. Policy- makers and society at large then face decisions to invest resources in addressing that need. This, as with many state policies, has been the history of development of genetics services at community level. Key examples are the care and prevention of thalassaemia in the Mediterranean region (Angastiniotis & Hadjiminas, 1981), the development of a prevention programme for haemoglobinopathies in Bahrain (Al Arrayed, 2005), the development of prenatal diagnosis in Iran, and the establishment of treatment centres for Gaucher disease in Brazil.
The need for genetics services in a community is established when:
- epidemiology demonstrates that a congenital disorder or a genetic disease imposes a significant burden to the community, either because of its prevalence or severity or both;
- the community perceives that the congenital disorder or genetic disease is a burden and requests care and preventive services;
- the development of medical technology allows cost-efficient preventive and therapeutic curative
Congenital disorders (birth defects) are structural or functional abnormalities, which are present from birth, whether recognized at birth or later and constitute a major health problem worldwide
(Christianson et al., 2006; WHO 2006; World Health Assembly Resolution WHA63.17, 2010). Studies of the birth prevalence of “severe” congenital disorders that are either lethal or cause lifelong impairment if untreated, indicate that, of the six WHO regions, the highest rate was reported in the Eastern Mediterranean region with >65 affected children/1 000 live births. (Alwan & Modell, 2003). These figures are supported by the recent global report of the March of Dimes which estimated the prevalence of birth defects to be >69.9/1 000 live births in most WHO Eastern Mediterranean countries, in contrast to <52.1/1 000 live births in Europe, North America and Australia (Christianson, Howson & Modell, 2006).
Contributing factors could include (Hamamy & Alwan, 1994; Modell & Kuliev, 1998; Khneisser et al., 2007; Lindner et al., 2007):
- general low availability of public health measures directed at the care and prevention of congenital disorders and the dearth of genetics services and inadequate health care prior to and during pregnancy;
- high frequency of haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in many countries in Africa and Middle-East and South-East Asia;
- high consanguinity rates in many countries in the Eastern Mediterranean and South-East Asia regions which possibly contribute to the increase in the expression of recessively inherited diseases;
- the advanced age to which women in many LMIC continue to conceive, which increases the predisposition to chromosomal trisomies such as Down syndrome (related to advanced maternal age). On the other hand, advanced paternal age increases the risk of occurrence of new mutations causing certain autosomal dominant disorders;
- large family size in many LMIC, which may contribute to the increase in the number of affected children in families with autosomal recessive
Comprehensive national initiatives are currently demanded because of the following.
- In many LMIC, infant mortality rates have declined markedly. When this occurs, the proportion of deaths due to congenital disorders becomes higher, indicating the importance of introducing effective care and prevention measures for such
- Many LMIC have good coverage of reproductive and other primary health-care programmes where community genetics services can be feasibly
- In some countries, consanguinity rates are in the range of, approximately 20–50%, indicating the need to understand the relationship of consanguinity to morbidity and mortality, as well as to understand the advantages and disadvantages related to consanguineous marriages.
- The high rate of haemoglobinopathies and other single gene disorders in some countries indicate the great potential of establishing cost-effective care and prevention programmes. Examples of countries successful in the use of programmes reducing the burden of these disorders are Bahrain, Cyprus and
- The public is becoming more aware of the availability of certain effective services, such as genetic risk assessment, genetic counselling, genetic testing and prenatal diagnosis. This has resulted in a demand for the introduction of such genetics services to the health
- Genetics is becoming an essential part of most medical specialties
Reliable epidemiologic and burden-of-disease data collection and needs-assessment analysis are needed to focus on priorities in planning care and prevention programmes for congenital disorders and genetic diseases. Data on the extent and availability of community genetics services, manpower, and laboratory facilities in countries should be obtained. Political will and commitment and financial resources are needed for funding, and planning programmes for the care and prevention of congenital disorders. The creation of national committees in genetics and health care with a focal person responsible, in collaboration with the WHO country office, is essential for planning a community-based care and prevention programme for congenital disorders and genetic diseases.
The prerequisites for the development of genetics services at community level are:
- the existence of an organized, functional, regionalized public sector health system with universal access;
- knowledge and technology being available for treatment and prevention of specific genetic conditions;
- studies demonstrating that community genetics services are both effective and a health priority;
- health professionals being capable and interested in leading the actions;
- patient organizations being involved;
- policy-makers allocating appropriate funding;
- agencies being organized to monitor quality of services and adherence to established objectives.