Targeted High-throughput Sequencing for ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Targeted High-throughput Sequencing for Hematological Malignancies: A GBMHM Survey of Practice and Cost Evaluation in France.
Author(s) :
Darlington, M. [Auteur]
Sujobert, P. [Auteur]
Kosmider, O. [Auteur]
Luque Paz, D. [Auteur]
Kaltenbach, S. [Auteur]
Figeac, Martin [Auteur]
Genomic @ Lille - PLBS [GO@L]
Hayette, S. [Auteur]
Mezaour, N. [Auteur]
Coquerelle, S. [Auteur]
Alary, A. S. [Auteur]
Bidet, A. [Auteur]
Le Bris, Y. [Auteur]
Delabesse, E. [Auteur]
Davi, F. [Auteur]
Preudhomme, Claude [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Durand-Zaleski, I. [Auteur]
Macintyre, E. [Auteur]
Sujobert, P. [Auteur]
Kosmider, O. [Auteur]
Luque Paz, D. [Auteur]
Kaltenbach, S. [Auteur]
Figeac, Martin [Auteur]
Genomic @ Lille - PLBS [GO@L]
Hayette, S. [Auteur]
Mezaour, N. [Auteur]
Coquerelle, S. [Auteur]
Alary, A. S. [Auteur]
Bidet, A. [Auteur]
Le Bris, Y. [Auteur]
Delabesse, E. [Auteur]
Davi, F. [Auteur]
Preudhomme, Claude [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Durand-Zaleski, I. [Auteur]
Macintyre, E. [Auteur]
Journal title :
HEMASPHERE
Abbreviated title :
HEMASPHERE
Volume number :
7
Pages :
e943
Publication date :
2023-09
ISSN :
2572-9241
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
The objective of this study was to assess the clinical impact and financial costs of next-generation sequencing (NGS) in 5 categories of pediatric and adult hematological cancers. NGS prescriptions were prospectively ...
Show more >The objective of this study was to assess the clinical impact and financial costs of next-generation sequencing (NGS) in 5 categories of pediatric and adult hematological cancers. NGS prescriptions were prospectively collected from 26 laboratories, with varied technical and reporting practice (all or only significant targets). Impact was defined by the identification of (1) an actionable mutation, (2) a mutation with prognostic and/or theranostic value, and/or (3) a mutation allowing nosological refinement, reported by local investigators. A microcosting study was undertaken in 4 laboratories, identifying the types and volumes of resources required for each procedural step. Individual index prescriptions for 3961 patients were available for impact analysis on the management of myeloid disorders (two thirds) and, mainly mature B, lymphoid disorders (one third). NGS results were considered to impact the management for 73.4% of prescriptions: useful for evaluation of prognostic risk in 34.9% and necessary for treatment adaptation (actionable) in 19.6%, but having no immediate individual therapeutic impact in 18.9%. The average overall cost per sample was 191 € for the restricted mature lymphoid amplicon panel. Capture panel costs varied from 369 € to 513 €. Unit costs varied from 0.5 € to 5.7 € per kb sequenced, from 3.6 € to 11.3 € per target gene/hot-spot sequenced and from 4.3 € to 73.8 € per target gene/hot-spot reported. Comparable costs for the Amplicon panels were 5–8 € per kb and 10.5–14.7 € per target gene/hot-spot sequenced and reported, demonstrating comparable costs with greater informativity/flexibility for capture strategies. Sustainable funding of precision medicine requires a transparent discussion of its impact on care pathways and its financial aspects.Show less >
Show more >The objective of this study was to assess the clinical impact and financial costs of next-generation sequencing (NGS) in 5 categories of pediatric and adult hematological cancers. NGS prescriptions were prospectively collected from 26 laboratories, with varied technical and reporting practice (all or only significant targets). Impact was defined by the identification of (1) an actionable mutation, (2) a mutation with prognostic and/or theranostic value, and/or (3) a mutation allowing nosological refinement, reported by local investigators. A microcosting study was undertaken in 4 laboratories, identifying the types and volumes of resources required for each procedural step. Individual index prescriptions for 3961 patients were available for impact analysis on the management of myeloid disorders (two thirds) and, mainly mature B, lymphoid disorders (one third). NGS results were considered to impact the management for 73.4% of prescriptions: useful for evaluation of prognostic risk in 34.9% and necessary for treatment adaptation (actionable) in 19.6%, but having no immediate individual therapeutic impact in 18.9%. The average overall cost per sample was 191 € for the restricted mature lymphoid amplicon panel. Capture panel costs varied from 369 € to 513 €. Unit costs varied from 0.5 € to 5.7 € per kb sequenced, from 3.6 € to 11.3 € per target gene/hot-spot sequenced and from 4.3 € to 73.8 € per target gene/hot-spot reported. Comparable costs for the Amplicon panels were 5–8 € per kb and 10.5–14.7 € per target gene/hot-spot sequenced and reported, demonstrating comparable costs with greater informativity/flexibility for capture strategies. Sustainable funding of precision medicine requires a transparent discussion of its impact on care pathways and its financial aspects.Show less >
Language :
Anglais
Peer reviewed article :
Oui
Audience :
Internationale
Popular science :
Non
Collections :
Submission date :
2023-12-21T06:33:15Z
2024-02-06T20:35:25Z
2024-02-06T20:35:25Z
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