TY  - JOUR
AU  - Bouvier, Damien
AU  - Giguère, Yves
PY  - 2019
DA  - 2019/09/06
TI  - Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications
JO  - OBM Genetics
SP  - 093
VL  - 03
IS  - 03
AB  - Newborn screening (NBS) for inborn errors of metabolism (IEM) was introduced more than 50 years ago with the testing of phenylketonuria (PKU) using blood spots deposited on a filter paper after heel prick. NBS aims to identify early after birth inherited disorders for which clinical management and pre-symptomatic treatment will significantly decrease morbidity and mortality. While NBS for a few other disorders was implemented in some specific jurisdictions over the following decades, it is with the introduction of tandem mass spectrometry (MSMS) by the end of the 1990’s that NBS expansion really took place. MSMS has had a tremendous impact on NBS, but led to heterogeneity in NBS disorders panel between jurisdictions that have introduced new conditions at various rates using different decision-making processes. In addition to disorders tested by MSMS, many programs have included other inherited disorders using various testing methodologies, including cystic fibrosis (CF), sickle cell diseases (SCD), while some others have been recently introduced in some jurisdictions or are under considerations, such as severe combined immunodeficiency (SCID), lysosomal storage disorders and X-linked adrenoleukodystrophy (X-ALD). As the cost of DNA testing decreases, the future of NBS will inevitably include genome sequencing, which will represent an opportunity to detect, treat and prevent more serious early-onset health conditions in the best interest of newborns, provided that public health authorities rule on ethical and policy issues, such as the identification of variant of unknown significance and the disclosure of incidental findings. Finally, despite the current exciting technological advances in the field of NBS in the Northern hemisphere, we should not be blinded that despite various initiatives, about two-thirds of neonates born in low-resource areas are still waiting to have access to NBS.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1903093
DO  - 10.21926/obm.genet.1903093
ID  - Bouvier2019
ER  -