Table 4.
Predicted uptake of the four testing alternatives in current practice
| Test | Test attributes and levels | Utility score | Probability of uptake | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Pathogenic mutation identified in X out of every 100 cases | VUS identified in X out of every 100 cases | Cost | Counselling | Secondary findings disclosed | Mean | SD | Mean | SD | |
| WGS | 50 | 55 | £5000 | 60 min | Subset | −18.5 | 30.8 | 0.10% | 0.60% |
| WES | 45 | 35 | £2500 | 60 min | Subset | 9.0 | 15.2 | 1.40% | 4.10% |
| Panel | 40 | 15 | £300 | 30 min | None | 33.9 | 15.9 | 98.10% | 6.20% |
| None | 0 | 0 | £0 | 0 min | None | −0.1 | 0.0 | 0.40% | 2.30% |
Panel panel test, SD standard deviation, VUS variants of unknown significance, WES whole exome sequencing, WGS whole genome sequencing