The application of genomic research to public health services in the last decades has led to more accurate and faster diagnostic tests, the development of new drugs and to the early detection of genetic disorders. But while wealthier countries have long been able to screen for the more common congenital disorders, low- and middle-income countries have been slower on the uptake. Lack of resources, lack of data on the true magnitude of the problem and lack of trained health professionals are only parts of the reason for this slow uptake. Congenital disorders can be perceived as less important than other public health problems. some countries, fears of stigma and legal or religious restrictions on abortion are barriers to screening programmes. In poorer countries, neonatal and infant mortality is mostly due to infectious diseases, and lack of antenatal care, so genetic diseases are not perceived as having enough importance for governments to allocate resources to establish genetic services, says Professor Lavinia Schuler-Faccini of the Department of Universidade Federal do Rio Grande do Sul in Porto Alegre, in Brazil. Genetics is largely perceived as extremely expensive and accessible to a minority of people. However, in poorer countries, the population also tends to have lower health education, and this frequently increases pregnancy risks. [ILLUSTRATION OMITTED] The situation is now changing. The approval of a resolution on the prevention and care of birth defects by the World Health Assembly in May 2010 and publication in 2011 of the first global report on community genetic services in low- and middle-income countries by World Health Organization (WHO) mean that genetic services could become more widely accessible. Community genetic services aim to prevent congenital disorders and genetic diseases and to provide diagnoses and counselling in the community for affected families. The WHO report highlighted some countries that have adopted prevention programmes for congenital disorders, such as Bahrain, Cyprus and the Islamic Republic of Iran, but found that congenital disorders--more commonly known as birth defects--constituted a major health problem worldwide and that there were not enough services in low- and middle-income countries to prevent and manage these conditions. Birth defects are defined by WHO as structural or functional abnormalities that are present from birth, whether recognized at birth or later. Some low- and middle-income countries--particularly in Africa, eastern Mediterranean and south-eastern Asia--combine limited prevention and care with high prevalence of particular congenital disorders, such as haemoglobinopathies; disorders that affect the way blood carries oxygen. Consanguinity--marriage between people who are related to each other--can increase inherited diseases, as can advanced maternal age at conception, which increases chromosomal trisomies such as Down syndrome. Screening and prevention programmes for genetic disorders can have other public health benefits through simple and wide-ranging interventions such as folic acid supplementation; immunization, screening and control of diabetes and obesity; and prevention of smoking initiation, according to Dr Lorenzo Botto, professor of Paediatrics at the University of Utah School of Medicine in the United States of America and chair of the executive committee of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Such measures can often be implemented within existing maternal and child programmes, and in time the same mechanisms should be used to give parents access to genetic counselling on an equitable basis, according to Dr Anita Kar, director of the Interdisciplinary School of Health Sciences at the University of Pune, India. India has yet to develop best practices for genetic counselling, she says. …
Read full abstract
Dec 1, 2014
Melissa A Maras + 4
Open Access