Table 2.
Clinical changes in patients receiving rWGS.
| Characteristics | Overall (%) | Diagnostic category | |||
|---|---|---|---|---|---|
| Negative | Diagnostic result | VUS | Secondary diagnosis | ||
| N (%) | N (%) | N (%) | N (%) | N (%) | |
| Total | 188 (100.0) | 93 (49.0) | 66 (35.0) | 22 (12.0) | 7 (4.0) |
| Gender | |||||
| Male | 112 (59.6) | 46 (24.5) | 45 (23.9) | 17 (9.0) | 4 (2.1) |
| Female | 76 (40.4) | 47 (25.0) | 21 (11.2) | 5 (2.7) | 3 (1.6) |
| Global change | |||||
| No change | 103 (54.8) | 68 (36.2) | 17 (9.0) | 12 (6.4) | 6 (3.2) |
| Better | 80 (42.6) | 24 (12.8) | 47 (25.0) | 8 (4.3) | 1 (0.5) |
| Worse | 5 (2.7) | 1 (0.5) | 2 (1.1) | 2 (1.1) | 0 (0.0) |
| Stay length change | |||||
| No change | 133 (70.7) | 83 (44.1) | 27 (14.4) | 16 (8.5) | 7 (3.7) |
| Shorter | 37 (19.7) | 3 (1.6) | 30 (16.0) | 4 (2.1) | 0 (0.0) |
| Patient discharged prior to test results | 9 (4.8) | 3 (1.6) | 4 (2.1) | 2 (1.1) | 0 (0.0) |
| Longer | 7 (3.7) | 3 (1.6) | 4 (2.1) | 0 (0.0) | 0 (0.0) |
| Patient died prior to test results | 2 (1.1) | 1 (0.5) | 1 (0.5) | 0 (0.0) | 0 (0.0) |
| Gestation age (weeks)a | |||||
| Full term | 138 (73.4) | 65 (34.6) | 52 (27.7) | 17 (9.0) | 4 (2.1) |
| Preterm | 50 (26.6) | 28 (14.9) | 14 (7.4) | 5 (2.7) | 3 (1.6) |
| Management changeb | |||||
| Minor | 76 (40.4) | 47 (25.0) | 18 (9.6) | 10 (5.3) | 1 (0.5) |
| Major | 61 (32.4) | 6 (3.2) | 46 (24.5) | 5 (2.7) | 4 (2.1) |
| No change | 51 (27.1) | 40 (21.3) | 2 (1.1) | 7 (3.7) | 2 (1.1) |
| Testing age (days) | |||||
| ≤28 days | 107 (56.9) | 53 (28.2) | 36 (19.1) | 14 (7.4) | 4 (2.1) |
| >28 days | 81 (43.1) | 40 (21.3) | 30 (16.0) | 8 (4.3) | 3 (1.6) |
rWGS, rapid whole genome squencing; VUS, variant of unknown significance.
a
Gestation age (weeks) was defined as <36 preterm, ≥37 full term.
b
Managment changes was defined hierarchically if any patient had any major change along with minor or other change then they were categorized as having major change, followed by only minor, and no change. Please refer to Appendix 1 to see which categories were categorized as major, minor, and no change.