Journal article
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
T Pan, Y Wu, J Buchanan, I Goranitis
Health and Quality of Life Outcomes | Published : 2023
Abstract
Background: Genomic testing transforms the diagnosis and management of rare conditions. However, uncertainty exists on how to best measure genomic outcomes for informing healthcare priorities. Using the HTA-preferred method should be the starting point to improve the evidence-base. This study explores the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing across childhood and adult-onset genetic conditions. Method: Self-reported patient-reported outcomes (PRO) were obtained from: primary caregivers of children with suspected neurodevelopmental disorders (NDs) or genetic kidney diseases (GKDs) (carers’ own PRO), adults with suspected GKDs using SF-12v2; adults with suspec..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
The authors would like to thank all the participants of Mitochondrial Diseases Flagship, Epileptic Encephalopathy Flagship, Brain Malformation Flagship, KidGen Renal Genetics Flagship, Complex Neurological and Neurodegenerative Condition Flagship, Dilated Cardiomyopathy Flagship and their families. We appreciate the support from the coordination team of Australian Genomics, Melbourne Genomics and genetic counselors. The findings and views reported in this paper, however, are those of the authors.