Table 3.
Per-patient time requirements and costs to review family history reports and whole genome sequencing reports.*
| Mean Time (SD) | Mean Costs, USD (SD) | Difference in Mean Costs, USD (95% CI) |
p | |||
|---|---|---|---|---|---|---|
| Cardiology Cohort | Control (n=51) | WGS (n=49) | Control (n=51) | WGS (n=49) | ||
| Informed consent for WGS | 0 (0) | 16 (6) | 0 (0) | 15 (5) | 15 (13 to 17) | <0.001 |
| Sequencing† | - | - | 0 (0) | 4000 (0) | 4000 (4000 to 4000) | <0.001 |
| Sanger confirmation† | - | - | 0 (0) | 603 (118) | 603 (571 to 637) | <0.001 |
| Variant interpretation and report drafting | 0 (0) | 305 (219) | 0 (0) | 292 (209) | 292 (231 to 356) | <0.001 |
| Laboratory report signout | 0 (0) | 82 (54) | 0 (0) | 101 (66) | 101 (83 to 120) | <0.001 |
| Data storage† | - | - | 0 (0) | 75 (0) | 75 (75 to 75) | <0.001 |
| Consultation with Genome Resource Center | 0 (0) | 0 (2) | 0 (0) | 0 (2) | 0 (0 to 1) | 0.863 |
| Disclosure of results | 14 (9) | 24 (11) | 170 (27) | 183 (25) | 12 (2 to 22) | 0.026 |
| Total, cardiology | 14 (9) | 428 (228) | 170 (27) | 5268 (288) | 5098 (5022 to 5182) | <0.001 |
| Primary Care Cohort | Control (n=50) | WGS (n=50) | Control (n=50) | WGS (n=50) | ||
| Informed consent for WGS | 0 (0) | 16 (5) | 0 (0) | 14 (5) | 14 (13 to 16) | <0.001 |
| Sequencing† | - | - | 0 (0) | 4000 (0) | 4000 (4000 to 4000) | <0.001 |
| Sanger confirmation† | - | - | 0 (0) | 624 (120) | 624 (591 to 660) | <0.001 |
| Variant interpretation and report drafting | 0 (0) | 214 (155) | 0 (0) | 204 (148) | 204 (162 to 248) | <0.001 |
| Laboratory report signout | 0 (0) | 95 (63) | 0 (0) | 116 (77) | 116 (95 to 139) | <0.001 |
| Data storage† | 0 (0) | 0 (0) | 0 (0) | 75 (0) | 75 (75 to 75) | <0.001 |
| Consultation with Genome Resource Center | 0 (1) | 9 (23) | 0 (1) | 6 (17) | 6 (2 to 11) | 0.003 |
| Disclosure of results | 17 (10) | 35 (18) | 149 (26) | 183 (28) | 34 (23 to 44) | <0.001 |
| Total, primary care | 17 (10) | 368 (184) | 149 (27) | 5222 (273) | 5073 (4995 to 5155) | <0.001 |
*
Cardiology patients also received a review of findings from prior genetic testing for their cardiomyopathy diagnoses. Analyses exclude research-specific costs, such as consenting participants for study participation. Except where noted, costs were estimated using a microcosting approach by tracking time demands and applying relevant wage rates. Steps that were not applicable to participants randomized to the control arm were not assigned times and assigned zero for associated costs.
†
Costs for these steps were estimated from market rates, and we did not track associated laboratory time demands.