Table 4.
Uptake and willingness-to-pay estimates for genomic sequencing in selected pediatric conditions.
| Examples of genetic conditions | Scenario 1 | Scenario 2 | Scenario 3 | Scenario 4 |
|---|---|---|---|---|
| Complex neurological conditions | Mitochondrial conditions | Severe epileptic disorders | Pediatric-onset cancer (e.g., retinoblastoma) | |
| Chance of having a genetic condition | 30% | 50% | 50% | 50% |
| Severity of the condition (moderate) | ✗ | ✗ | ✗ | ✗ |
| Severity of the condition (severe) | ✓ | ✓ | ✓ | ✓ |
| Availability of preventive or treatment options (improve condition) | ✗ | ✗ | ✓ | ✓ |
| Availability of preventive or treatment options (cure/prevent condition) | ✗ | ✗ | ✗ | ✓ |
| Improving the process of medical care (somewhat likely) | ✓ | ✗ | ✗ | ✗ |
| Improving the process of medical care (very likely) | ✗ | ✓ | ✓ | ✓ |
| Disclosure of test results to others | ✗ | ✗ | ✗ | ✗ |
| Disclosure of secondary findings to you | ✗ | ✗ | ✗ | ✓ |
| Cost of testing to you | No cost | No cost | No cost | No cost |
| Mean uptake (%) (95% confidence intervals) | 60 (59 to 61) | 65 (64 to 66) | 73 (72 to 74) | 81 (79 to 82) |
| Median uptake (%) (95% confidence intervals) | 70 (67 to 72) | 78 (76 to 80) | 91 (90 to 92) | 98 (97 to 98) |
| Real-world uptake (%) | No evidence | No evidence | No evidence | No evidence |
| Mean willingness-to-pay (AU$) (95% confidence intervals) | 5470 (5272 to 5668) | 6915 (6677 to 7152) | 10,090 (9788 to 10,390) | 15,250 (14,860 to 15,638) |
| Median willingness-to-pay (AU$) (95% confidence intervals) | 4438 (4052 to 4805) | 5726 (5334 to 6107) | 8830 (8335 to 9272) | 14,388 (13,802 to 14,826) |
✗ non-applicable; ✓: applicable.