Abstract
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.
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Change history
15 June 2018
Since the publication of the article, it has been noted that there is an error in Table 2. Where 543€ is listed in the final column of the table, this should have been written as 550€.
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Acknowledgements
We are grateful to all the staff of the laboratories involved in this study that participated in data collection, and we thank especially the laboratories that allowed site visits. In somatic genetics, these laboratories were: Gustave Roussy: Biopathology integrated genetic platform Molecular Pathology; Angers University Hospital; Plateforme SNP, Transcriptom et Epigénomique; Comprehensive Cancer Center Curie, Paris; Unité de Parmacogénomique; Service de Génétique; Rennes University Hospital; Cancer Somatic Genetics Laboratory; Lille University Hospital; Cancer Molecular Genetic Centre; Lille University Hospital; Laboratory of Oncohaematology; Department of Biology-Pathology-Genetics; Comprehensive Cancer Center Bergonié, Bordeaux; Molecular Pathology Unit. In germline genetics, these laboratories were: Lille University Hospital; Digestive Molecular Oncogenetic Unit; Comprehensive Cancer Centre CRLCC François Baclesse, Caen; Cancer Biology and Genetics Laboratory; Comprehensive Cancer Center Curie, Paris; Unité Génétique Constitutionnelle; Service de Génétique; Oscar Lambret Cancer Centre, Lille; Human Molecular Oncology Unit; Gustave Roussy; Biopathology integrated Genetic platform; Oncogenetic Laboratory; Lille University Hospital; Endocrine Molecular Oncogenetic Unit; Rouen University Hospital; Molecular Genetics, Department of Genetics; Nantes University Hospital; Plateforme de Génétique moléculaire des cancers; Service de génétique médicale. We are grateful to Frederique Nowak and Etienne Lonchamp (biology, transfer and innovations department, National Cancer Institute, France), Huong Ly Hoang (Institut Curie, Paris, France), Maroua Mimouni (URC-Eco, Ile-de-France, Paris, France), Dominik Heinz, and Marie Warren Collon (Cancer Centre Léon Bérard, Lyon, France).
Funding
This study was supported by a grant from the French National Cancer Institute, dedicated to economic analyses of innovative techniques (reference number 2013-1-NGS-02). This research was funded by the National Cancer Institute in France (INCa) and the Canceropôle Ile de France. The views expressed in this work are those of the authors and not those of the funding bodies.
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Marino, P., Touzani, R., Perrier, L. et al. Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study. Eur J Hum Genet 26, 314–323 (2018). https://doi.org/10.1038/s41431-017-0081-3
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DOI: https://doi.org/10.1038/s41431-017-0081-3
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