Regulatory issues in clinical and laboratory genetics in developing countries; Examples from Latin America

Abstract

Latin America, a region of medium-to-low income countries with a population of 580 million, is experiencing a rise in non communicable diseases coexisting with nutritional and infectious diseases characteristic of poverty and underdevelopment. • Congenital defects and genetic disorders have increased their share of morbidity and mortality over the last 2 decades of the twentieth century, and tertiary care-based genetic services have developed in academic centers and referral hospitals in the public system of big cities. • Main problems in genetic services are underfunding, fragmentation of services and access inequities despite the existence of a sizable workforce of about 600 clinical geneticists in the region. • Clinical and laboratory activities in medical genetics are poorly regulated and concern for the quality of services is not high among health authorities and health professionals. There are no systematic efforts for quality assessment of clinical genetic services, genetic counseling and genetic testing. The few existing regulations are difficult to enforce and most initiatives for quality assessment and improvement are voluntary. • Quality assessment of genetic services is improving slowly, as ministries of health in some countries of the region are working with professional societies to develop new regulations and mechanisms to enforce them.