Table 1.
Univariate Analysis of Clinician Perception of Clinical Utility of rWGS, rWES, and urWGS in NICU, PICU, and CVICU Infants
| rWES | rWGS | rWES versus rWGS p Value | urWGS | urWGS versus rWES+ rWGS P value | Positive Tests | Negative Tests | Pos versus Neg Tests p Value | |
|---|---|---|---|---|---|---|---|---|
| Infants enrolleda | 95 | 94 | N/A | 24 | N/A | 51 | 162 | N/A |
| Test identified molecular diagnosis or incidental finding, n (%)a | 20 (21%) | 20 (21%) | 1 | 11 (46%) | 0.01 | N/A | N/A | N/A |
| Time to first positive or negative report (days), median (range)a | 11.2 (4−39) | 11.0 (3−49) | 0.65 | 4.6 (1–4) | <0.0001 | N/A | N/A | N/A |
| Time to first positive report (days), median (range)a | 11.4 (8−39) | 11.8 (3−25) | 0.69 | 2.3 (1–14) | 0.0002 | N/A | N/A | N/A |
| Clinician Perception | ||||||||
| Surveys completed, n (%) | 90 (95%) | 93 (99%) | N/D | 24 (100%) | N/D | 49 (96%) | 158 (98%) | N/D |
| Test was useful or very useful, n (%) | 66 (76%) | 66 (73%) | 0.73 | 22 (92%) | 0.07 | 42 (93%) | 112 (72%) | 0.002 |
| Test changed management, n (%) | 19 (21%) | 23 (25%) | 0.6 | 15 (63%) | 0.0001 | 31 (63%) | 26 (16%) | <0.00001 |
| Test changed an outcome, n (%) | 17 (19%) | 9 (10%) | 0.09 | 6 (25%) | 0.22 | 19 (39%) | 13 (8%) | <0.00001 |
| Test improved communication, n (%) | 34 (38%) | 34 (37%) | 0.88 | 16 (67%) | 0.008 | 34 (69%) | 50 (32%) | <0.00001 |
| Test increased stress or confusion, n (%) | 3 (35) | 1 (1%) | 0.36 | 2 (8%) | 0.14 | 4 (8%) | 2 (1%) | 0.14 |
| Test let to other changes in management, n (%) | 20 (22%) | 21 (23%) | 1 | 10 (42%) | 0.047 | 40 (82%) | 11 (7%) | <0.00001 |
| Test led to another test being cancelled, n (%) | 16 (19%) | 20 (22%) | 1 | 8 (32%) | 0.18 | 13 (27%) | 31 (20%) | 0.32 |
| Test led to another test being ordered, n (%) | 11 (12%) | 15 (16%) | 0.53 | 5 (21%) | 0.37 | 19 (39%) | 9 (6%) | <0.00001 |
N/A, not applicable; N/D, not done. Rates of occurrence were compared between groups with Fisher’s exact test. A significance cutoff of α = 0.05 was used for all analyses. All analyses were conducted in R v.3.3.3.
Results were previously published.6