Newborn Screening for Inborn Errors of Metabolism

Inborn errors of metabolism are a large group of debilitating hereditary disorders, usually manifesting during infancy and early childhood. They are substantial social and financial burdens to health care authorities. Historically, the concept of newborn screening was first applied to the amino acid metabolic disorder phenylketonuria almost sixty years ago. Since then, the technologies used, and metabolites discovered for newborn screening for inborn errors of metabolism have significantly advanced. Furthermore, with the recent discovery of novel therapeutic modalities for many inborn errors of metabolism, the importance of newborn screening for these disorders is gaining more momentum. Especially for most inborn errors, the earlier the specific therapy starts, the better the prognosis will be. Currently, hundreds of regional and national health authorities all over the world have running programs for the newborn screening of inborn errors of metabolism. These programs vary depending on the disease spectrum and financial limitations of each country.

We welcome research proposals, including the following themes:
• National or regional epidemiological experience for the newborn screening of one or more inborn errors of metabolism
• Clinical outcomes of patients after being diagnosed by newborn screening programs for inborn errors of metabolism
• Newborn screening pilot studies
• Proposals to include new diseases in newborn screening programs based on new advances in diagnostic or therapeutic modalities
• The potential of next-generation sequencing as a promising tool for newborn screening of inherited disorders
• Discovery of new biomarkers for inborn errors that can be used in newborn screening
• Clinical guidelines for newborn screening programs and the choice of first-tier and second-tier tests
• Technological advances that can be applied to the field of newborn screening for inborn errors of metabolism

This research topic will explore the clinical experience gained from the running newborn screening programs for inborn errors of metabolism in different countries. It will also explore any proposals to improve the performance of newborn screening programs either on the logistical or the technical levels.