Table 3 Cost-effectiveness of the TACScore strategy versus the WES strategy from the personal budget perspective
| Â | 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) |