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