Table 2.
Responsiveness of PROMs of parents or patients with different rare diseases by perceived value of diagnostic genomic sequencing
| Value of genomic sequencing in providing information | Value in maximizing chance to improve health | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Among those who found value in this aspect | Among those who did not found value | Among those who found value in this aspect | Among those who did not found value | |||||||||||||||||
| Changes in PROs | N | Mean | SD | p-value | SRM | N | Mean | SD | p-value | SRM | N | Mean | SD | p-value | SRM | N | Mean | SD | p-value | SRM |
| NDs (parents) | ||||||||||||||||||||
| SF-6D | 44 | -0.03 | 0.12 | 0.08 | -0.27a | 13 | -0.04 | 0.13 | 0.23 | -0.35a | ||||||||||
| SF-12 PCS | 44 | -2.18 | 10.66 | 0.18 | -0.20a | 13 | -2.24 | 8.25 | 0.35 | -0.27a | ||||||||||
| SF-12 MCS | 44 | 0.73 | 13.27 | 0.72 | 0.05 | 13 | -5.26 | 14.63 | 0.22 | -0.36a | ||||||||||
| GKDs (parents) | ||||||||||||||||||||
| SF-6D | 17 | -0.01 | 0.10 | 0.77 | -0.07 | 2 | 0.00 | 0.06 | 0.95 | 0.05 | 18 | -0.01 | 0.10 | 0.69 | -0.10 | 1 | 0.05 | NA | NA | NA |
| SF-12 PCS | 17 | -0.74 | 7.23 | 0.68 | -0.10 | 2 | 1.61 | 5.74 | 0.76 | 0.28a | 18 | -0.84 | 7.03 | 0.62 | -0.12 | 1 | 5.66 | NA | NA | NA |
| SF-12 MCS | 17 | -0.81 | 9.57 | 0.73 | -0.09 | 2 | 0.22 | 5.70 | 0.96 | 0.04 | 18 | -0.98 | 9.31 | 0.66 | -0.11 | 1 | 4.25 | NA | NA | NA |
| GKDs (adult patients) | ||||||||||||||||||||
| SF-6D | 55 | -0.01 | 0.09 | 0.42 | -0.11 | 12 | -0.01 | 0.10 | 0.80 | -0.08 | 55 | -0.01 | 0.09 | 0.29 | -0.14 | 12 | 0.00 | 0.12 | 0.93 | 0.03 |
| SF-12 PCS | 54 | 0.24 | 8.61 | 0.84 | 0.03 | 12 | 2.32 | 6.93 | 0.27 | 0.33a | 54 | 1.44 | 7.71 | 0.18 | 0.19 | 12 | -3.06 | 10.20 | 0.32 | -0.30 |
| SF-12 MCS | 54 | -0.73 | 7.95 | 0.50 | -0.09 | 12 | -0.78 | 9.97 | 0.79 | -0.08 | 54 | -1.69 | 7.63 | 0.11 | -0.22a | 12 | 3.52 | 9.97 | 0.25 | 0.35a |
| CNDs (adult patients) | ||||||||||||||||||||
| EQ-5D-5L | ||||||||||||||||||||
| utility score | 37 | -0.01 | 0.15 | 0.76 | -0.05 | 17 | 0.01 | 0.12 | 0.70 | 0.09 | 42 | 0.01 | 0.15 | 0.78 | 0.04 | 12 | -0.03 | 0.07 | 0.39 | -0.43a |
| EQ VAS score | 35 | -0.02 | 0.19 | 0.46 | -0.13 | 17 | 0.03 | 0.14 | 0.45 | 0.19 | 40 | 0 | 0.19 | 0.98 | 0 | 12 | -0.04 | 0.13 | 0.39 | -0.26a |
| DASS | ||||||||||||||||||||
| Depression | 30 | 0.21 | 1.55 | 0.78 | 0.14 | 15 | -0.33 | 0.65 | 0.1 | -0.51b | 33 | 0.04 | 1.47 | 0.42 | 0.03 | 12 | 0 | 0.89 | 1 | 0.00 |
| Anxiety | 30 | 0.29 | 1.26 | 0.32 | 0.23a | 15 | -0.03 | 0.99 | 0.98 | -0.03 | 33 | 0.24 | 1.25 | 0.43 | 0.19 | 12 | 0.04 | 0.97 | 0.64 | 0.04 |
| Stress | 30 | 0.04 | 1.22 | 0.98 | 0.03 | 15 | 0.2 | 0.52 | 0.11 | 0.38a | 33 | 0.03 | 1.16 | 1 | 0.03 | 12 | 0.27 | 0.61 | 0.12 | 0.44a |
| Neuro QoL | ||||||||||||||||||||
| PAW | 35 | -1.12 | 5.42 | 0.23 | -0.21a | 15 | -0.19 | 4.79 | 0.88 | -0.04 | 39 | -1.18 | 5.28 | 0.17 | -0.22a | 11 | 0.35 | 5.01 | 0.82 | 0.07 |
| Dilated cardiomyopathy (adult patients) | ||||||||||||||||||||
| AQoL-8D | 17 | 0 | 0.1 | 0.88 | 0.04 | 11 | 0.02 | 0.11 | 0.54 | 0.19 | 23 | 0.01 | 0.09 | 0.48 | 0.15 | 5 | 0 | 0.16 | 0.97 | -0.02 |
| Physical | 17 | -0.02 | 0.11 | 0.46 | -0.18 | 11 | 0.04 | 0.16 | 0.4 | 0.26a | 23 | 0.01 | 0.13 | 0.58 | 0.12 | 5 | -0.05 | 0.16 | 0.53 | -0.30a |
| Psychosocial | 17 | 0 | 0.1 | 0.86 | 0.04 | 11 | 0.01 | 0.09 | 0.68 | 0.13 | 23 | 0 | 0.09 | 0.81 | 0.05 | 5 | 0.02 | 0.11 | 0.72 | 0.17 |
Note: PROMs: patient-reported outcome measures; ND: neurodevelopmental disorders; GKD: genetic kidney diseases; CNDs: complex neurological disorders; DCM: dilated cardiomyopathy. For ND parents, GKD parents and GKD adults, a higher SF-6D score, SF-12 Physical Component Scores (PCS) and SF-12 Mental Component Scores (MCS) indicate better health. t-test was used to assess the mean change in SF-6D score, SF-12 PCS score and SF-12 MCS score. For adult CND patients, a higher EQ-5D utility score and EQ VAS score indicates better health. We rescaled EQ VAS score to a 0–1 scale; DASS scale score was converted to z-score to enable comparison between DASS scale scores. We rescaled the DASS scores so that higher z-score indicates better health state (i.e. the rescale score = 0- original z-score). A higher Neuro-QoL T-score represents more of the concept being measured. t-tests was used to assess the mean change in EQ-5D utility score, EQ VAS score and NeuroQoL score and Wilcoxon’s test was used to assess the mean change in DASS score. For adult DCM patients, a higher AQoL utility score and the two component scores indicate better health. t-test was used to assess the mean change in AQoL utility score.
The values of 0.2, 0.5 and 0.8 represent the cut-off points for small (a), moderate (b), and large (c) standardised response mean (SRM) effect sizes
*, **, *** denote significance at the 10, 5, and 1% level, respectively