Analyse microcostale et coût-conséquence des stratégies cliniques de tests génomiques dans le trouble du spectre de l'autisme

Aperçu: G.M.

Bien que les coûts pour le séquençage de l'exome en totalité WES et du génome en totalité WGS demeurent élevés, les réductions futures des coûts de matériel et d'équipement et une compréhension accrue des variantes nouvellement découvertes et des variantes de signification inconnue devraient conduite à un plus grand intérêt.

Genet Med. 2017 May 4. doi: 10.1038/gim.2017.47.

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

Tsiplova K¹, Zur RM¹, Marshall CR^2,3, Stavropoulos DJ^3,4, Pereira SL⁵, Merico D⁵, Young EJ⁴, Sung WWL⁵, Scherer SW^5,6, Ungar WJ^1,7.

Author information

1

Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.

2

Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

3

Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

4

Cytogenetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

5

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

6

McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

7

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.

Abstract

PurposeWhole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but there have been no comprehensive cost analyses. The objective was to perform such an assessment of CMA, WES, and WGS and compare the incremental cost per additional positive finding in hypothetical testing scenarios.MethodsFive-year patient and program costs were estimated from an institutional perspective. WES and WGS estimates were based on HiSeq 2500 with an additional WGS estimate for HiSeq X platforms. Parameter uncertainty was assessed with probabilistic and deterministic sensitivity analysis.ResultsThe cost per ASD sample was CAD$1,655 (95% CI: 1,611; 1,699) for WES, CAD$2,851 (95% CI: 2,750; 2,956) for WGS on HiSeq X, and CAD$5,519 (95% CI: 5,244; 5,785) on HiSeq 2500, compared to CAD$744 (95% CI 714, 773) for CMA. The incremental cost was over CAD$25,000 per additional positive finding if CMA was replaced by newer technology.
Conclusion
While costs for WES and WGS remain high, future reductions in material and equipment costs, and increased understanding of newly discovered variants and variants of unknown significance will lead to improved value.GENETICS in MEDICINE advance online publication, 4 May 2017; doi:10.1038/gim.2017.47.

PMID: 28471434

DOI: 10.1038/gim.2017.47