Application of next-generation sequencing to improve cancer management

A review of the clinical effectiveness and cost-effectiveness

O. Tan*, R. Shrestha, M. Cunich, D. J. Schofield

*Corresponding author for this work

Research output: Contribution to journalArticle

13 Citations (Scopus)


Uptake of next-generation sequencing (NGS) has increased dramatically due to significant cost reductions and broader community acceptance of NGS. To systematically review the evidence on both the clinical effectiveness and the cost-effectiveness of applying NGS to cancer care. A systematic search for full-length original research articles on the clinical effectiveness and cost-effectiveness of NGS in MEDLINE and EMBASE. Articles that focussed on cancer care and involved the application of NGS were included for the review of clinical effectiveness. For the cost-effectiveness review, we only included the articles with economic evaluations of NGS in cancer care. We report the rate of successfully detecting mutations from the clinical studies. The incremental cost-effectiveness ratio and sensitivity analysis outcomes are reported for the cost-effectiveness articles. Fifty-six articles reported that sequencing patient samples using targeted gene panels, and 83% of the successfully sequenced patients harboured at least 1 mutation. Only 6 studies reported on the cost-effectiveness of the application of NGS in cancer care. NGS is an effective tool for identifying mutation in cancer patients. However, more rigorous cost-effectiveness studies of NGS applied to cancer management are needed to determine whether NGS can improve patient outcomes cost-effectively.

Original languageEnglish
Pages (from-to)533-544
Number of pages12
JournalClinical Genetics
Issue number3
Publication statusPublished - Mar 2018



  • cancer
  • cost-effectiveness
  • economic evaluation
  • effectiveness
  • next-generation sequencing
  • quality of evidence

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