Rapid genome sequencing for pediatrics

Hum Mutat. 2022 Nov;43(11):1507-1518. doi: 10.1002/humu.24466. Epub 2022 Sep 23.


The advancements made in next-generation sequencing (NGS) technology over the past two decades have transformed our understanding of genetic variation in humans and had a profound impact on our ability to diagnose patients with rare genetic diseases. In this review, we discuss the recently developed application of rapid NGS techniques, used to diagnose pediatric patients with suspected rare diseases who are critically ill. We highlight the challenges associated with performing such clinical diagnostics tests in terms of the laboratory infrastructure, bioinformatic analysis pipelines, and the ethical considerations that need to be addressed. We end by looking at what future developments in this field may look like and how they can be used to augment the genetic data to further improve the diagnostic rates for these high-priority patients.

Keywords: bioinformatics; ethics; next-generation sequencing (NGS); rare disease; variant interpretation; whole exome sequencing (WES); whole genome sequencing (WGS).

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Mapping
  • High-Throughput Nucleotide Sequencing* / methods
  • Humans
  • Pediatrics*