The to the demographic changes in Chile, where preventable causes of d
eath are being controlled and congenital malformations arise as an imp
ortant cause of morbidity and mortality during infancy, of pathologica
l pregnancies and reproductive alterations medical genetics is becomin
g increasingly important. Using data from an inquiry that was answered
by thirteen medical genetics centers in the country, this article rev
iews the history of the discipline in Chile, the available resources,
the existent services, the main problems found and their eventual solu
tions, genetics teaching and the research that is being conducted.