The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM)
e202101021
Keywords:
Newborn screening, Inborn errors of metabolism, Public Health, PreventionAbstract
Newborn screening programs for congenital diseases aim to achieve a presymptomatic and early diagnosis of treatable disorders, in order to prevent or significantly reduce morbidity and/or mortality. Many of the conditions included in these programs are inborn errors of metabolism (IEM); however, the detection of endocrine, hematological, immunological, cardiovascular diseases, and congenital hearing loss are also included in many of them. Newborn screening tests are not diagnostic and therefore additional tests are needed to confirm or exclude the suspected diagnosis. The social and professional demand of the hand of the technological advances and new therapeutic options, allow the continuous expansion of neonatal screening; This progress has a clear benefit for patients, since thanks to the early diagnosis and treatment of their disease they can have a better prognosis and a better quality of life. The inclusion criteria of the different diseases should not be evaluated exclusively in function of the moment in which the evaluation is carried out, it is necessary to apply a long-term vision of opportunity based on the strengths of the health system. Today, after 50 years of experience, we can assure that neonatal screening programs constitute one of the most significant advances that have occurred in public health, their widespread practice has been one of the great achievements in pediatric healthcare and are marking the healthcare organization of many adult units. Hand in hand with advances in genetics and genomics, newborn screening programs will continue to expand for those disorders in which early intervention can significantly modify the course of the disease.
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Copyright (c) 2021 Domingo González-Lamuño Leguina, Mª Dolores Bóveda Fontán, María Bueno Delgado, Laura Gort Mas, María Unceta Suárez, Montserrat Morales Conejo
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