The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Genet Med
; 22(1): 85-94, 2020 01.
Article
em En
| MEDLINE
| ID: mdl-31358947
ABSTRACT
PURPOSE:
The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support this estimate. We estimate the cost of using genome sequencing in routine clinical care in patients with cancer or rare diseases.METHODS:
We performed a microcosting study of Illumina-based genome sequencing in a UK National Health Service laboratory processing 399 samples/year. Cost data were collected for all steps in the sequencing pathway, including bioinformatics analysis and reporting of results. Sensitivity analysis identified key cost drivers.RESULTS:
Genome sequencing costs £6841 per cancer case (comprising matched tumor and germline samples) and £7050 per rare disease case (three samples). The consumables used during sequencing are the most expensive component of testing (68-72% of the total cost). Equipment costs are higher for rare disease cases, whereas consumable and staff costs are slightly higher for cancer cases.CONCLUSION:
The cost of genome sequencing is underestimated if only sequencing costs are considered, and likely surpasses $1000/genome in a single laboratory. This aspirational sequencing cost will likely only be achieved if consumable costs are considerably reduced and sequencing is performed at scale.Palavras-chave
Texto completo:
1
Temas:
ECOS
/
Aspectos_gerais
/
Financiamentos_gastos
Bases de dados:
MEDLINE
Assunto principal:
Doenças Raras
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Sequenciamento Completo do Genoma
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Neoplasias
Tipo de estudo:
Health_economic_evaluation
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Genet Med
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Reino Unido