
Fulltext:
167905.pdf
Embargo:
until further notice
Size:
165.0Kb
Format:
PDF
Description:
publisher's version
Publication year
2016Source
Clinical Chemistry, 62, 11, (2016), pp. 1458-1464ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Health Evidence
Human Genetics
Operating Rooms
Journal title
Clinical Chemistry
Volume
vol. 62
Issue
iss. 11
Page start
p. 1458
Page end
p. 1464
Subject
Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences; Radboudumc 13: Stress-related disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 15: Urological cancers RIHS: Radboud Institute for Health Sciences; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical NeuroscienceAbstract
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 euro1669 for WGS, euro 792 for WES and euro333 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.
This item appears in the following Collection(s)
- Academic publications [202604]
- Electronic publications [100797]
- Faculty of Medical Sciences [79949]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.