Newborn Sequencing in Genomic Medicine and Public Health

Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.


The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

Publication types

  • Randomized Controlled Trial

MeSH terms

  • Exome / genetics
  • Genetic Carrier Screening
  • Genetic Research
  • Genetic Testing*
  • Genome-Wide Association Study
  • Genomic Structural Variation / genetics
  • Humans
  • Infant, Newborn
  • Intensive Care Units, Neonatal
  • Neonatal Screening*
  • Predictive Value of Tests
  • Prospective Studies
  • Public Health*
  • Sequence Analysis, DNA*
  • United States