Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

Sci Transl Med. 2011 Jun 15;3(87):87ps23. doi: 10.1126/scitranslmed.3002695.


Next-generation sequencing technologies have greatly lowered the cost of whole-genome sequencing (WGS) and related approaches. Thus, comprehensive sequencing for diagnostic purposes may clear this financial hurdle in the near future. The report by Bainbridge and colleagues in this issue of Science Translational Medicine illustrates the diagnostic power of WGS. In this Perspective, we discuss whether and how genome sequencing might become routine for clinical diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnosis, Differential
  • Forecasting
  • Genome*
  • High-Throughput Nucleotide Sequencing / economics
  • High-Throughput Nucleotide Sequencing / statistics & numerical data*
  • Humans
  • Sequence Analysis, DNA / economics
  • Sequence Analysis, DNA / statistics & numerical data*