A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

ABSTRACT:

Background

A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the current NBS tests. To overcome these issues, we developed a multigene panel for IMD testing and investigated the utility of our integrated screening model in a routine NBS environment. We also evaluated the genetic epidemiologic characteristics of IMDs in a Korean population.

Methods

In total, 269 dried blood spots with positive results from current NBS tests were collected from 120,700 consecutive newborns. We screened 97 genes related to NBS in Korea and detected IMDs, using an integrated screening model based on biochemical tests and next-generation sequencin

SUBMITTER: Park KJ 

PROVIDER: S-EPMC5011110 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature