Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

Jonathan S Berg; Cynthia M Powell

doi:10.1101/cshperspect.a023150

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

Cold Spring Harb Perspect Med. 2015 Oct 5;5(12):a023150. doi: 10.1101/cshperspect.a023150.

Authors

Jonathan S Berg¹, Cynthia M Powell²

Affiliations

¹ Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7264.
² Departments of Pediatrics and Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599-7264.

Abstract

Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS has yet to be demonstrated and its application in the pediatric population requires examination, not only for potential clinical benefits, but also for the unique ethical challenges it presents.

Publication types

Review

MeSH terms

Exome
Genetic Testing / ethics
Genetic Testing / methods
Genomics / methods*
Hearing Loss / diagnosis
Humans
Infant, Newborn
Neonatal Screening / ethics
Neonatal Screening / methods*
United States

Grants and funding

U19 HD077632/HD/NICHD NIH HHS/United States