Can we afford to sequence every newborn baby's genome?

Hum Mutat. 2015 Mar;36(3):283-6. doi: 10.1002/humu.22748.


Whole-exome sequencing and whole-genome sequencing are gradually entering into the clinical arena. Drops in sequencing prices have led some to suggest that these analyses could be extended to the screening of whole populations or subsets thereof. Herein, we argue that this optimism is presently still unfounded. While cost estimates take into account the generation of sequence data, they fail to properly evaluate both the price of accurate and efficient interpretation and of the proper return of genomic information to the consulting individuals. Thus, short of inventing new, cost-effective ways of achieving these goals, the latter are likely to ruin our healthcare systems. We posit that due to lack of available resources, generalization of this practice remains, for the time being, unrealistic.

Keywords: NBS; WES; WGS; newborn screening; whole-exome sequencing; whole-genome sequencing.

MeSH terms

  • Genome, Human*
  • Humans
  • Infant, Newborn*
  • Sequence Analysis, DNA / economics*
  • Sequence Analysis, DNA / methods