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 3 Responsiveness of PROMs of based on clinical utility among parents of children affected by ND

	Genomic testing useful in changing management										Genomic testing useful in improving health
	Yes					No					Yes					No
Changes in HRQoL	N	Mean	SD	p-value	SRM	N	Mean	SD	p-value	SRM	N	Mean	SD	p-value	SRM	N	Mean	SD	p-value	SRM
ND parents
SF-6D	13	-0.04	0.07	0.14	-0.499a	9	-0.02	0.13	0.72	-0.12	13	-0.02	0.05	0.28	-0.31a	9	-0.05	0.15	0.38	-0.31a
SF-12 PCS	13	-1.64	11.96	0.63	-0.14	9	-3.49	6.89	0.17	-0.50b	13	-1.57	11.68	0.64	-0.13	9	-3.59	7.55	0.19	-0.48a
SF-12 MCS	13	-0.19	15.41	0.97	-0.01	9	1.25	12.30	0.77	0.10	13	1.34	14.84	0.75	0.09	9	-0.95	13.24	0.84	-0.07

Note: PROMs: patient-reported outcome measures; ND: neurodevelopmental disorders.
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

ISSN: 1477-7525