QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia

Table 1 Responsiveness of PROMs between baseline and follow-up of parents or patients with different rare diseases by diagnostic outcome

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 CND adult 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. 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

ISSN: 1477-7525