Human Genomics in Global Health

WHO's Human Genetics areas of work

Hereditary and congenital disorders

As a result of the reduction of the mortality and morbidity caused by communicable diseases and malnutrition, certain conditions such as hereditary and congenital disorders have been recognized as being major health burdens. The birth incidence of infants with these disorders, including those that are trivial or relatively easily corrected, is generally estimated to be about 25-60/1000. In general, the burden of genetic disorders is heaviest in developing countries because they lack a social support system. Taking this into account, a number of international activities on control of hereditary diseases and congenital disorders have been initiated and supported by WHO.

Using the initial experiences on thalassaemia contril, the problem of cystic fibrosis, haemophilia, haemochromatosis, have also been considering by HGN. In the first instance, they are the most prevalent hereditary diseases. Secondly, the genes responsible for the disorders have now been revealed. Thirdly, approaches are available for integrated care, including testing for carriers, presymptomatic and early diagnosis, therapy rehabilitation, and prevention by means of family planning.

Our experience has shown that the basis for treatment and prevention of genetic and congenital disorders are concerned with availability of basic demographic and epidemiological data to identify priorities; facilities for genetic diagnosis; care for the disabled and for children with chronic disease; preventive approaches and prenatal diagnosis; professional education designed to insure that genetic approaches are incorporated into most branches of medicine; and audit, based on registers of congenital malformations, and of patients with avoidable conditions.