Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies.

Critical Reviews in Clinical Laboratory Sciences
Yolanda González-IrazabalEduardo Martínez-Morillo

Abstract

The benefits of newborn screening (NBS) programs have been widely demonstrated after more than 50 years since first established. NBS enables the detection of the disease before the child shows clinical symptoms, allowing clinicians to act early and facilitating appropriate interventions to prevent or improve adverse outcomes. Delay or lack of medical intervention in these infants may lead to developmental delay, severe disability, or premature death. NBS programs have grown exponentially both in the number of diseases screened and in complexity, creating controversy. New technological advances, as well as the emergence of new therapies that require early disease detection, have allowed for the inclusion of new diseases in NBS screening programs. However, different countries and even different regions have in turn adopted very diverse strategies and diagnostic algorithms when it comes to NBS. There are many factors responsible for these differences, such as the health care system, available funds, local politics, professional groups, and others that depend on the position taken by policymakers. These differences in NBS have led to discrepancies in detection opportunities between countries or regions, which has led to many varied...Continue Reading

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Citations

Nov 19, 2020·International Journal of Neonatal Screening·Francyne KubaskiRoberto Giugliani

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