Table 3 Per-patient cost, diagnostic yield, and CPPD of the CAUSES diagnostic ES service
Base case | Scenario 1: no GCS | Scenario 2: singleton ES | |
|---|---|---|---|
1. Genomic consultation | $947 | — | $950 |
2. Initial clinic visit | $286 | $481 | $287 |
3. Sample acquisition & preparation | $408 | $419 | $305 |
4. Sequencing | $2,194 | $2,205 | $774 |
5. Bioinformatics analysis | $903 | $859 | $1,475 |
6. Interpretation | $640 | $651 | $641 |
7. Sanger confirmation & clinical laboratory report | $561 | $451 | $512 |
8. Results discussed with family | $200 | $198 | $180 |
Average cost per patient = | $6,138 | $5,263 | $5,125 |
Diagnostic yield = | 42.6% | 34.0% | 28.1% |
CPPD = | $14,405 | $15,495 | $18,223 |
Sensitivity of CPPD to yield estimates | |||
10% relative increase in yield | 46.9% | 37.4% | 30.9% |
Per-patient cost | $6,196 | $5,309 | $5,182 |
CPPD | $13,220 | $14,211 | $16,753 |
10% relative decrease in yield | 38.3% | 30.6% | 25.3% |
Per-patient cost | $6,079 | $5,216 | $5,067 |
CPPD | $15,853 | $17,065 | $20,020 |
