Genetic medicine and global health

Abstract

Recent estimates suggest that nearly 8 million children are born each year with a serious birth defect of genetic or partial genetic origin, and over 3 million children under the age of 5 years die from birth defects each year. As poorer countries go through the epidemiological transition following improvements in social conditions and health care, many babies with serious genetic diseases who would have died in early life with these conditions unrecognized are now surviving for diagnosis and management. The reasons for the particularly high frequency of some genetic diseases in poorer countries are complex; undoubtedly natural selection, consanguinity, and increased parental age are important factors. Common monogenic diseases such as the hemoglobinopathies are presenting an increasingly severe health burden. DNA diagnostics and modern genomic technologies have an increasingly important part to play in the control of many common communicable diseases, and as countries go through the epidemiological transition many of them are encountering epidemics of diseases of westernization, including cardiac disease, hypertension, and type 2 diabetes, almost certainly reflecting changes in environment associated with variable genetic susceptibility. The introduction of clinical genetics and genetic technology into the developing countries raises many complex ethical and social issues, not to mention the high costs of this technology. Recent reports from the World Health Organization have stressed the potential value of evolving North/South partnerships between centers in genetics in the richer countries and the developing countries; these might be followed by South/South partnerships between emerging countries with expertise gained in this area and adjacent countries where no such skills exist. But none of these developments will occur without a greater recognition of the importance of genomics on the part of the major international health agencies.