Challenges of using next generation sequencing in newborn screening

Genet Res (Camb). 2015 Nov 2;97:e21. doi: 10.1017/S0016672315000178.


Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. While newborn genome sequencing can potentially increase the number of disorders identified by newborn screening, the generalization of its practice raises a number of important ethical issues. This short article argues that there are medical, psychological, ethical and economic reasons why widespread dissemination of newborn screening is still premature.

MeSH terms

  • Child Health Services / economics
  • Cost-Benefit Analysis
  • Exome / genetics*
  • Genome, Human / genetics*
  • High-Throughput Nucleotide Sequencing / economics
  • High-Throughput Nucleotide Sequencing / ethics
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Infant Welfare / economics
  • Infant Welfare / psychology
  • Infant, Newborn
  • Neonatal Screening / economics
  • Neonatal Screening / ethics
  • Neonatal Screening / methods*