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 significant 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.
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.
Parents of affected children had significantly 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%).
Paediatric rare genetic conditions appear to be associated with substantial parental health spillovers. This highlights the importance of including health effects on family members and caregivers into economic evaluation of genomic technologies and personalised medicine. Overlooking spillover effects may undervalue the benefits 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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The authors would like to thank all the participants of KidGen Renal Genetics Flagship, Mitochondrial Diseases Flagship, Epileptic Encephalopathy Flagship, Brain Malformation Flagship and their families. We appreciate the coordination team of Australian Genomics and genetic counsellors for data collection and support. The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. This paper uses unit record data from the Household, Income and Labour Dynamics in Australia (HILDA) Survey. The HILDA Project was initiated and is funded by the Australian Government Department of Social Services (DSS) and is managed by the Melbourne Institute of Applied Economic and Social Research (Melbourne Institute). The findings and views reported in this paper, however, are those of the author and should not be attributed to either DSS or the Melbourne Institute.
The study as part of “Australian Genomic Health Alliance: Preparing Australia for Genomic Medicine” project was funded by a National Health and Medical Research Council (NHMRC) Targeted Call for Research grant (GNT1113531). This work was also supported by the Melbourne Genomics Health Alliance and grants from the Royal Children’s Hospital Foundation.
Conflict of interest
I. Scheffer serves on the editorial boards of Neurology® and Epileptic Disorders; may accrue future revenue on a pending patent regarding Therapeutic compound; has received speaker honoraria from Athena Diagnostics, BioMarin, UCB, GSK, Eisai, and Transgenomics; has received scientific advisory board honoraria from BioMarin, Nutricia and GSK; has received funding for travel from Athena Diagnostics, BioMarin, UCB, and GSK; and receives/has received research support from the NHMRC, ARC, NIH, Health Research Council of New Zealand, March of Dimes, the Weizmann Institute, CURE, US Department of Defense, and the Perpetual Charitable Trustees. K. Howell is supported by an Early Career Fellowship and New Investigator Project Grant from the National Health and Medical Research Council of Australia. P. Lockhart is supported by the Vincent Chiodo Foundation and receives research support from the National Health and Medical Research Council of Australia and the Orphan Disease Centre, University of Pennsylvania. YW, IG, HA, AM, CQ, JC, RJL, ZS and TB declare that they have no conflict of interest.
Ethics approvals were granted by the Melbourne Health Human Research Ethic Committee (HREC) (Ref no.: HREC/16/MH/251), the UnitingCare Health HREC (Ref no.: 1717), the Tasmanian Health and Medical HREC (Ref no.: H0016443), and the Northern Territory Department of Health and Menzies School of Health Research HREC (Ref no.: 2017–2999), as part of the project “Australian Genomic Health Alliance: Preparing Australian for Genomic Medicine”.
Informed consent for participation in the clinical “flagship” projects, research and publication was obtained from the parents of the enrolled children.
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Wu, Y., Al-Janabi, H., Mallett, A. et al. Parental health spillover effects of paediatric rare genetic conditions. Qual Life Res 29, 2445–2454 (2020). https://doi.org/10.1007/s11136-020-02497-3
- Rare disease
- Quality of life
- Economic evaluation
- Informal care
- Genomic medicine