Genetics and public health

Worldwide, genetic diseases affect no less than 5% of all newborns. Most are caused by altered genes transmitted at conception, while a lesser share are due to chromosomal abnormalities--quantitative imbalances in the genetic material leading to various disorders including Down syndrome. The impact of these pathologies is especially severe because they are typically chronic, often affect more than one child in a family, and commonly demand expensive or inaccessible therapeutic methods. Current trends indicate that the demand for health services dealing with these and other congenital defects in Latin America will continue to grow, making it imperative that health plans include strategies for providing appropriate services. The steps called for in seeking to provide such services are as follows: (1) clearly define the aims of the genetic health program; (2) assess, organize, and distribute the available human and material resources; (3) plan and implement primary care activities designed to detect genetic risk factors, and see that these are integrated into all relevant programs (family planning, prenatal care, etc.); (4) organize a referral network for complex diagnostic studies, genetic counseling, treatment, and rehabilitation; (5) encourage close collaboration between health planners and medical geneticists on education and health activities; (6) provide genetic health training programs for primary health care personnel; (7) develop genetic health education programs for the general public; and (8) adopt standardized procedures for supervising and evaluating these various activities and their results. By means of such strategies it has already been possible to considerably reduce morbidity and mortality caused by genetic problems in various parts of the world, including a number of developing countries.