Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.
Cost analysis
Exome sequencing
Intellectual disability
Micro-costing
Journal
BMC health services research
ISSN: 1472-6963
Titre abrégé: BMC Health Serv Res
Pays: England
ID NLM: 101088677
Informations de publication
Date de publication:
21 Apr 2023
21 Apr 2023
Historique:
received:
01
07
2022
accepted:
04
04
2023
medline:
25
4
2023
pubmed:
22
4
2023
entrez:
21
04
2023
Statut:
epublish
Résumé
With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French policy makers determine an adequate tariff for ES, we aimed to assess the unit cost per ES diagnostic test for ID from the preparation of the pre-analytical step until the report writing step and to identify its main cost drivers. A micro-costing bottom-up approach was conducted for the year 2018 in a French setting as part of the DISSEQ study, a cost-effectiveness study funded by the Ministry of Health and performed in collaboration with the GAD (Génétique des Anomalies du Développement), a genetic team from the Dijon University Hospital, and a public sequencing platform, the Centre National de Recherche en Génomique Humaine (CNRGH). The analysis was conducted from the point of view of these two ES stakeholders. All of the resources (labor, equipment, disposables and reagents, reusable material) required to analyze blood samples were identified, collected and valued. Several sensitivity analyses were performed. The unit nominal cost per ES diagnostic test for ID was estimated to be €2,019.39. Labor represented 50.7% of the total cost. The analytical step (from the preparation of libraries to the analysis of sequences) represented 88% of the total cost. Sensitivity analyses suggested that a simultaneous price decrease of 20% for the capture kit and 50% for the sequencing support kit led to an estimation of €1,769 per ES diagnostic test for ID. This is the first estimation of ES cost to be done in the French setting of ID diagnosis. The estimation is especially influenced by the price of equipment kits, but more generally by the organization of the centers involved in the different steps of the analysis and the time period in which the study was conducted. This information can now be used to define an adequate tariff and assess the efficiency of ES. ClinicalTrials.gov identifier NCT03287206 on September 19, 2017.
Sections du résumé
BACKGROUND
BACKGROUND
With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French policy makers determine an adequate tariff for ES, we aimed to assess the unit cost per ES diagnostic test for ID from the preparation of the pre-analytical step until the report writing step and to identify its main cost drivers.
METHODS
METHODS
A micro-costing bottom-up approach was conducted for the year 2018 in a French setting as part of the DISSEQ study, a cost-effectiveness study funded by the Ministry of Health and performed in collaboration with the GAD (Génétique des Anomalies du Développement), a genetic team from the Dijon University Hospital, and a public sequencing platform, the Centre National de Recherche en Génomique Humaine (CNRGH). The analysis was conducted from the point of view of these two ES stakeholders. All of the resources (labor, equipment, disposables and reagents, reusable material) required to analyze blood samples were identified, collected and valued. Several sensitivity analyses were performed.
RESULTS
RESULTS
The unit nominal cost per ES diagnostic test for ID was estimated to be €2,019.39. Labor represented 50.7% of the total cost. The analytical step (from the preparation of libraries to the analysis of sequences) represented 88% of the total cost. Sensitivity analyses suggested that a simultaneous price decrease of 20% for the capture kit and 50% for the sequencing support kit led to an estimation of €1,769 per ES diagnostic test for ID.
CONCLUSION
CONCLUSIONS
This is the first estimation of ES cost to be done in the French setting of ID diagnosis. The estimation is especially influenced by the price of equipment kits, but more generally by the organization of the centers involved in the different steps of the analysis and the time period in which the study was conducted. This information can now be used to define an adequate tariff and assess the efficiency of ES.
TRIAL REGISTRATION
BACKGROUND
ClinicalTrials.gov identifier NCT03287206 on September 19, 2017.
Identifiants
pubmed: 37085862
doi: 10.1186/s12913-023-09373-z
pii: 10.1186/s12913-023-09373-z
pmc: PMC10120135
doi:
Banques de données
ClinicalTrials.gov
['NCT03287206']
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
386Subventions
Organisme : French Ministry of Health
ID : PRME-15-0322
Investigateurs
S Arpin
(S)
P Blanchet
(P)
S Blesson
(S)
O Boute-Benejean
(O)
T Busa
(T)
E Colin
(E)
C Coubes
(C)
F Devillard
(F)
P Edery
(P)
S El Chehadeh
(S)
M Fradin
(M)
A Goldenberg
(A)
A-M Guerrot
(AM)
Y Herenger
(Y)
N Houcinat
(N)
N Jean-Marcais
(N)
P S Jouk
(PS)
L Lambert
(L)
A Lavillaureix
(A)
M Legendre
(M)
B Leheup
(B)
S Manouvrier
(S)
S Mercier
(S)
S Moutton
(S)
M Nizon
(M)
L Pasquier
(L)
F Petit
(F)
L Pinson
(L)
C Poirsier
(C)
L Pons
(L)
A Putoux
(A)
C Quelin
(C)
M Renaud
(M)
M Rossi
(M)
A Sorlin
(A)
M Spodenkiewicz
(M)
J Thevenon
(J)
A Toutain
(A)
J Van-Gils
(J)
C Vanlerberghe
(C)
A Verloes
(A)
M Vincent
(M)
C Vincent-Delorme
(C)
M Willems
(M)
A Ziegler
(A)
Informations de copyright
© 2023. The Author(s).
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