TY - JOUR

T1 - Cost analysis of whole genome sequencing in German clinical practice

AU - Plöthner, Marika

AU - Frank, Martin

AU - von der Schulenburg, J. Matthias Graf

N1 - Publisher Copyright: © 2016, Springer-Verlag Berlin Heidelberg. Copyright: Copyright 2017 Elsevier B.V., All rights reserved.

PY - 2017/6

Y1 - 2017/6

N2 - Objectives: 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. Methodology: 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.

AB - Objectives: 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. Methodology: 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.

KW - Cost analysis

KW - German clinical practice

KW - Whole genome sequencing

UR - http://www.scopus.com/inward/record.url?scp=84977156766&partnerID=8YFLogxK

U2 - 10.1007/s10198-016-0815-0

DO - 10.1007/s10198-016-0815-0

M3 - Article

C2 - 27380512

AN - SCOPUS:84977156766

VL - 18

SP - 623

EP - 633

JO - European Journal of Health Economics

JF - European Journal of Health Economics

SN - 1618-7598

IS - 5

ER -