Translating Molecular Technologies into Routine Newborn Screening Practice

Abstract

As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience and what has been reported in the literature, we describe current practices regarding the applications of molecular technologies in routine NBS practice in the era of genomic and precision medicine.

Keywords

• newborn screening
• next generation sequencing
• droplet digital polymerase chain reaction
• real-time polymerase chain reaction
• Tetra-primer amplification refractory mutation system–polymerase chain reaction
• severe combined immunodeficiency