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Table 3 Cost-effectiveness of the TACScore strategy versus the WES strategy from the personal budget 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 1336.3 1336.3
 Genetic consultation 676.2 64.4
 Clinical consultation 1336.3 1336.3
TBX6 Monogenic test
 Sanger sequencing 995.4 2061.9
 ddPCR 1352.4 2801.4
Next generation sequencing
 WES 90868.4 49266.0
Other
 DNA extraction and shipping 2485.5 2485.5
Total cost 99050.5 59351.8
Total diagnostic time (d) 3656 2527
Total number of patients 83 83
Number of patients underwent WES 83 45
Total number of diagnoses 42 42
Average cost per patient (95% CI) 1193.4 (1185.5, 1201.3) 715.1 (594.5, 835.7)
Average cost difference (95% CI) −478.3 (−599.1, −357.5)
Average diagnostic time per patient (95% CI) (d) 44.0 (43.2, 44.9) 30.4 (26.3, 34.6)
Average diagnostic time difference (95% CI) (d) −13.6 (−17.8, −9.4)
  1. Abbreviations: WES whole-exome sequencing, TACScore TBX6-associated congenital scoliosis risk score, ddPCR droplet digital polymerase chain reaction