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Eur J Hum Genet. 2018 Mar;26(3):314-323. doi: 10.1038/s41431-017-0081-3. Epub 2018 Jan 24.

Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study.

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Institut Paoli Calmettes, SESSTIM, Marseille, France.
INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, Aix Marseille Univ, Marseille, France.
Institut Paoli Calmettes, SESSTIM, Marseille, France.
INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale, Aix Marseille Univ, Marseille, France.
Léon Berard Cancer Centre, GATE L-SE, UMR-CNRS 5824, Lyon, France.
Department of Pathology and Medical Biology, Gustave Roussy, Villejuif, France.
Rothschild Fundation, Health Economy, Paris, France.
Gustave Roussy, Etudes et Recherche en économie de la santé, Villejuif, France.
Hôpital Hôtel Dieu, URC Eco Ile de France, Paris, France.
Cancer Comprehensive Center François Baclesse, Cancer Biology and Genetics Laboratory, Caen, France.
CHRU of Lille, Biology & Pathology Center, Laboratory of Hematology, Lille, France.


It is currently unclear if next-generation sequencing (NGS) technologies can be implemented in the diagnosis setting at an affordable cost. The aim of this study was to measure the total cost of performing NGS in clinical practice in France, in both germline and somatic cancer genetics.The study was performed on 15 French representative cancer molecular genetics laboratories performing NGS panels' tests. The production cost was estimated using a micro-costing method with resources consumed collected in situ in each laboratory from a healthcare provider perspective. In addition, we used a top-down methodology for specific post-sequencing steps including bioinformatics, technical validation, and biological validation. Additional non-specific costs were also included. Costs were detailed per step of the process (from the pre-analytical phase to delivery of results), and per cost driver (consumables, staff, equipment, maintenance, overheads). Sensitivity analyses were performed.The mean total cost of NGS for targeted gene panels was estimated to 607€ (±207) in somatic genetics and 550€ (±140) in germline oncogenetic analysis. Consumables were the highest cost driver of the sequencing process. The sensitivity analysis showed that a 25% reduction of consumables resulted in a 15% decrease in total NGS cost in somatic genetics, and 13% in germline analysis. Additional costs accounted for 30-32% of the total NGS costs.Beyond cost assessment considerations, the diffusion of NGS technologies will raise questions about their efficiency when compared to more targeted approaches, and their added value in a context of routine diagnosis.

[Available on 2019-03-01]
[Indexed for MEDLINE]

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