Whole-genome sequencing in personalized therapeutics

Clin Pharmacol Ther. 2012 Jun;91(6):1001-9. doi: 10.1038/clpt.2012.51.

Abstract

Eleven years since the initial drafts of the human genome were published, we have begun to see the first examples of the application of whole-genome sequencing to personalized diagnosis and therapeutics. The exponential decline in sequencing costs and the constant improvement in these technologies promise to further advance the use of a patient's full genetic profile in the clinic. However, realizing the potential benefit of such sequencing will require a concerted effort by science, medicine, law, and management. In this review, we discuss current approaches to decoding the 6 billion-letter genetic code of a whole genome in a clinical context, give current examples of translating this information into therapy-guiding knowledge, and list the challenges that will need to be surmounted before these powerful data can be fully exploited to forward the goals of personalized medicine.

Publication types

  • Meta-Analysis
  • Review

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • DNA / genetics
  • Drug Therapy / trends*
  • Genetic Testing
  • Genetic Variation
  • Genome, Human / genetics*
  • Genomic Structural Variation
  • Humans
  • Neoplasms / drug therapy
  • Neoplasms / genetics
  • Pharmacogenetics
  • Polymorphism, Single Nucleotide
  • Precision Medicine / trends*
  • Preventive Medicine
  • Pseudogenes / genetics
  • Repetitive Sequences, Nucleic Acid

Substances

  • Antineoplastic Agents
  • DNA