In his speech at Public Account 2024, President Gabriel Boric announced the expansion of the Neonatal Screening Program in Chile, highlighting its importance in the early detection of treatable medical conditions in newborns. The Institute of Nutrition and Food Technology (INTA) of the University of Chile, which has played a key role in this task since 1992, when it began the ministerial neonatal investigation of only two pathologies, will be a fundamental part of the new health strategy. public as a reference center accredited by the Ministry of Health.
In the 2024 Public Account, President Gabriel Boric announced the expansion of the Neonatal Screening Program in Chilehighlighting its importance in the early detection of treatable medical conditions in newborns. Since 1992, the Institute of Nutrition and Food Technology (INTA) of the University of Chile has actively worked on this program., contributing to the implementation of the Neonatal Screening for Phenylketonuria (PKU) and Congenital Hypothyroidism (CH) by the Ministry of Health (MINSAL). Thanks to these measures, has prevented intellectual disability in more than 5,000 boys and girlswho have been able to lead a normal life.
The announcement will mean a extension of the research from 2 to 26 pathologies to be detected, which will allow a significant increase in the number of people diagnosed with a disease that, when treated in time, does not cause harm to the patient’s health. In this way, with the appropriate experience and resources, It is expected to prevent neurological sequelae or the death of more than 200 infants each year..
Early detection of treatable diseases in newborns is a fundamental pillar of the national public health strategy that has been internationally recognized as a crucial preventive tool. The INTA of the University of Chile, through the Laboratory of Metabolic Diseases (LEM), is the MINSAL Reference Center for the confirmation and monitoring of patients with PKU., according to the “standards for the optimal development of Mass Search Programs for Phenylketonuria, Congenital Hypothyroidism and other Inborn Metabolism Errors.” Since 2002, it has also offered the possibility of carrying out expanded research thanks to the incorporation of the LEM to the first tandem mass spectrometer. The presidential announcement, in this sense, will imply a increase in the flow of samples received for confirmation of 22 of the 24 metabolic conditions included in this announced expansionfor which the laboratory is prepared as an institutional provider accredited by the MINSAL.
The director of INTA Clinical Assistance Center of the University of Chile, the doctor Juan Francisco Cabellostressed the importance of this expansion, pointing out that “It not only represents an advance in public health, but also a smart economic decision“. Cost/benefit studies suggest that every dollar invested in the program can save up to $50 in long-term care costs, while maximizing the contribution of healthy citizens to the country.
The challenge for Chile lay in the inclusion of these 24 new pathologies in the National Research Program, among which will be Tyrosinemia type I, Maple Syrup Urine Disease or Glutaric Aciduria type I, among others. With this expansion, Chile is at the head of Latin American countries as the country that screens the most conditions among newborns through a national program.
