title: Cost analysis of whole genome sequencing in German clinical practice.
abstract: OBJECTIVE
  Whole genome sequencing (WGS) is an emerging tool in clinical diagnostics. However, little has been said about its procedure costs, owing to a dearth of related cost studies. This study helps fill this research gap by analyzing the execution costs of WGS within the setting of German clinical practice.
  
  
  METHODS
  First, to estimate costs, a sequencing process related to clinical practice was undertaken. Once relevant resources were identified, a quantification and monetary evaluation was conducted using data and information from expert interviews with clinical geneticists, and personnel at private enterprises and hospitals. This study focuses on identifying the costs associated with the standard sequencing process, and the procedure costs for a single WGS were analyzed on the basis of two sequencing platforms-namely, HiSeq 2500 and HiSeq Xten, both by Illumina, Inc. In addition, sensitivity analyses were performed to assess the influence of various uses of sequencing platforms and various coverage values on a fixed-cost degression.
  
  
  RESULTS
  In the base case scenario-which features 80 % utilization and 30-times coverage-the cost of a single WGS analysis with the HiSeq 2500 was estimated at €3858.06. The cost of sequencing materials was estimated at €2848.08; related personnel costs of €396.94 and acquisition/maintenance costs (€607.39) were also found. In comparison, the cost of sequencing that uses the latest technology (i.e., HiSeq Xten) was approximately 63 % cheaper, at €1411.20.
  
  
  CONCLUSIONS
  The estimated costs of WGS currently exceed the prediction of a 'US$1000 per genome', by more than a factor of 3.8. In particular, the material costs in themselves exceed this predicted cost.
authors.affiliation: Center for Health Economics Research Hannover (CHERH), Leibniz University Hannover, Otto-Brenner-Straße 1, 30159, Hannover, Germany. mp@cherh.de.
authors.forename: Marika
authors.initials: M
authors.lastname: Plöthner
authors.affiliation: Center for Health Economics Research Hannover (CHERH), Leibniz University Hannover, Otto-Brenner-Straße 1, 30159, Hannover, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Frank
authors.affiliation: Center for Health Economics Research Hannover (CHERH), Leibniz University Hannover, Otto-Brenner-Straße 1, 30159, Hannover, Germany.
authors.forename: J-Matthias Graf
authors.initials: JG
authors.lastname: von der Schulenburg
mesh_terms: D003365:Costs and Cost Analysis; D005858:Germany; D006801:Humans; D018803:Models, Economic; D000073336:Whole Genome Sequencing / Q000191:economics*
keywords: Cost analysis; German clinical practice; Whole genome sequencing