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Table 2 Cost-effectiveness of the TACScore strategy versus the WES strategy from the health care payer perspective

From: Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis

  Model 1:
WES as a first-line test (USD)
Model 2:
TACScore as a screening test (USD)
Assessments
 Outpatient appointment 6697.6 6697.6
 Genetic consultation 1175.3 563.5
 Clinical consultation 6697.6 6697.6
TBX6 Monogenic test
 Sanger sequencing 1730.1 2796.6
 ddPCR 2350.6 3799.6
Next generation sequencing
 WES 455436.8 413834.4
Other
 DNA extraction and shipping 12457.5 12457.5
Total cost 486545.4 446846.8
Total diagnostic time (d) 17224 16095
Total number of patients 416 416
Number of patients underwent WES 416 378
Total number of diagnoses 73 73
Average cost per patient (95% CI) 1169.6 (1166.9, 1172.2) 1074.2 (1044.8, 1103.5)
Average cost difference (95% CI) −95.4 (−124.9, −66.0)
Average diagnostic time per patient (95% CI) (d) 41.4 (41.1, 41.7) 38.7 (37.8, 39.6)
Average diagnostic time difference (95% CI) (d) −2.7 (−3.7, −1.7)
  1. Abbreviations: WES whole-exome sequencing, TACScore TBX6-associated congenital scoliosis risk score, ddPCR droplet digital polymerase chain reaction