Assessing the costs and cost-effectiveness of genomic sequencing

Kurt D. Christensen, Dmitry Dukhovny, Uwe Siebert, Robert C. Green

Research output: Contribution to journalReview article

52 Scopus citations


Despite dramatic drops in DNA sequencing costs, concerns are great that the integration of genomic sequencing into clinical settings will drastically increase health care expenditures. This commentary presents an overview of what is known about the costs and cost-effectiveness of genomic sequencing. We discuss the cost of germline genomic sequencing, addressing factors that have facilitated the decrease in sequencing costs to date and anticipating the factors that will drive sequencing costs in the future. We then address the cost-effectiveness of diagnostic and pharmacogenomic applications of genomic sequencing, with an emphasis on the implications for secondary findings disclosure and the integration of genomic sequencing into general patient care. Throughout, we ground the discussion by describing efforts in the MedSeq Project, an ongoing randomized controlled clinical trial, to understand the costs and cost-effectiveness of integrating whole genome sequencing into cardiology and primary care settings.

Original languageEnglish (US)
Pages (from-to)470-486
Number of pages17
JournalJournal of Personalized Medicine
Issue number4
StatePublished - Dec 10 2015



  • Cost
  • Cost-effectiveness
  • Whole exome sequencing
  • Whole genomic sequencing

ASJC Scopus subject areas

  • Medicine (miscellaneous)

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