Perspectives on molecular screening in pediatrics

Today, as the field of molecular genetics continues to evolve rapidly, there is a growing gap of new technological tools available for the molecular study of genetic diseases, allowing precision diagnosis in a large number of critically ill patients, as well as in patients who are still asymptomatic [1-3]. These diseases are silent, disabling and difficult to manage; they become a daily challenge that requires multidisciplinary intervention by specialists, who are often scarce in areas of difficult access, as they are found in third and fourth level hospitals. This is especially true in our Latin American countries where we observe centralization of specialized services in the capital cities [4,5]. At present we do not have precise statistics in our region for these diseases, but it is clear that the impact is increasing. Nowadays we do not give enough in the consultation, before we were only left with an impression diagnosis. With the important take-off of genomics, the world has changed and accurate diagnosis at the right time is what modifies the management and improves the prognosis of patients.