Wu, You, Al-Janabi, Hareth, Mallett, Andrew, Quinlan, Catherine, Scheffer, Ingrid E., Howell, Katherine B., Christodoulou, John, Leventer, Richard J., Lockhart, Paul J., Stark, Zornitza, Boughtwood, Tiffany, and Goranitis, Ilias (2020) Parental health spillover effects of paediatric rare genetic conditions. Quality of Life Research, 29. pp. 2445-2454.

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Abstract

Purpose The complexity and severity of rare genetic conditions pose substantial burden to families. While the importance of spillovers on carers’ health in resource allocation decisions is increasingly recognised, there is signifcant lack of empirical evidence in the context of rare diseases. The objective of this study was to estimate the health spillovers of paediatric rare genetic conditions on parents.

Methods Health-related quality-of-life (HRQoL) data from children with rare genetic conditions (genetic kidney diseases, mitochondrial diseases, epileptic encephalopathies, brain malformations) and their parents were collected using the CHU9D and SF-12 measures, respectively. We used two approaches to estimate parental health spillovers. To quantify the ‘absolute health spillover’, we matched our parent cohort to the Australian general population. To quantify the ‘relative health spillover’, regression models were applied using the cohort data.

Results Parents of afected children had signifcantly lower HRQoL compared to matched parents in the general public (−0.06; 95% CIs −0.08, −0.04). Multivariable regression demonstrated a positive association between parental and child health. The mean magnitude of HRQoL loss in parents was estimated to be 33% of the HRQoL loss observed in children (95% CIs 21%, 46%).

Conclusion Paediatric rare genetic conditions appear to be associated with substantial parental health spillovers. This highlights the importance of including health efects on family members and caregivers into economic evaluation of genomic technologies and personalised medicine. Overlooking spillover efects may undervalue the benefts of diagnosis and management in this context. This study also expands the knowledge of family spillover to the rare disease spectrum.

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