title: Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.
abstract: BACKGROUND
  The substantial technological advancements in next-generation sequencing (NGS), combined with dropping costs, have allowed for a swift diffusion of NGS applications in clinical settings. Although several commercial parties report to have broken the $1000 barrier for sequencing an entire human genome, a valid cost overview for NGS is currently lacking. This study provides a complete, transparent and up-to-date overview of the total costs of different NGS applications.
  
  
  METHODS
  Cost calculations for targeted gene panels (TGP), whole exome sequencing (WES) and whole genome sequencing (WGS) were based on the Illumina NextSeq500, HiSeq4000, and HiSeqX5 platforms, respectively. To anticipate future developments, sensitivity analyses are performed.
  
  
  RESULTS
  Per-sample costs were €1669 for WGS, € 792 for WES and €333 for TGP. To reach the coveted $1000 genome, not only is the long-term and efficient use of the sequencing equipment needed, but also large reductions in capital costs and especially consumable costs are also required.
  
  
  CONCLUSIONS
  WES and TGP are considerably lower-cost alternatives to WGS. However, this does not imply that these NGS approaches should be preferred in clinical practice, since this should be based on the tradeoff between costs and the expected clinical utility of the approach chosen. The results of the present study contribute to the evaluation of such tradeoffs.
authors.affiliation: Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center; kirsten.vannimwegen@radboudumc.nl.
authors.forename: Kirsten J M
authors.initials: KJ
authors.lastname: van Nimwegen
authors.affiliation: Department of Human Genetics, Donders Centre for Neuroscience, and.
authors.forename: Ronald A
authors.initials: RA
authors.lastname: van Soest
authors.affiliation: Department of Human Genetics, Donders Centre for Neuroscience, and.|Department of Clinical Genetics, GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands.
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
authors.affiliation: Department of Human Genetics, Donders Centre for Neuroscience, and.
authors.forename: Marcel R
authors.initials: MR
authors.lastname: Nelen
authors.affiliation: Department for Health Evidence, Donders Centre for Neuroscience, Radboud university medical center, Nijmegen, the Netherlands.
authors.forename: Gert Jan
authors.initials: GJ
authors.lastname: van der Wilt
authors.affiliation: Department of Human Genetics, Donders Centre for Neuroscience, and.
authors.forename: Lisenka E L M
authors.initials: LE
authors.lastname: Vissers
authors.affiliation: Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center.
authors.forename: Janneke P C
authors.initials: JP
authors.lastname: Grutters
mesh_terms: D003365:Costs and Cost Analysis; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics* / Q000639:trends*; D006801:Humans; D017422:Sequence Analysis, DNA / Q000191:economics* / Q000639:trends*