A new study from Australian Genomics has illustrated the substantial health ‘spillover’ effects on the parents of children with a rare genetic disorder.
Around 80 per cent of rare conditions are genetic and most affect children.
“Parental spillover” describes the physical and psycho-social impacts borne by the parents of children with a rare genetic condition.
The challenges faced by children and their families can be attributed to a protracted journey to diagnosis, life-long caring needs, a limited opportunity for independent living, an absence of treatment options and substantial health service needs.
In the study, published in Quality of Life Research, investigators collected quality of life evidence from parents and children enrolled in Australian Genomics rare disease clinical flagships: genetic kidney diseases*, mitochondrial diseases, epileptic encephalopathies and brain malformations.
The authors explored parental quality of life in relation to the quality of life of the child and the quality of life of other parents in the general population in Australia.
We found that parents in our study had significantly lower reported health-related quality of life, compared with matched parents in the general public,” said author Eunice (You) Wu, health economist with Australian Genomics and The University of Melbourne.
Parent’s health-related quality of life is significantly associated with the quality of life of their child.”
The findings led authors to recommend that estimates of parental spillover be a standard inclusion, rather than an ‘optional extra’, in cost-utility analyses of genomic technology and rare genetic diseases.
“Overlooking the parental spillover effect in economic assessments for rare genetic conditions may actually undervalue the benefits of genetic diagnosis.”
While the impact on care-givers’ health is now more recognised in resource allocation, this study is among the first to estimate parental spill-over effects specific to paediatric rare genetic disorders.
The authors suggest that further research using repeated measurements of health and wellbeing from all family members, will helpfully elucidate spillover effects – and provide an even more detailed picture of the value of genomic technology.
The paper Parental health spill-over effects of paediatric rare genetic conditions is available here
The authors are: You Wu, Hareth Al-Janabi, Andrew Mallett, Catherine Quinlan, Ingrid Scheffer, Katherine Howell, John Christodoulou, Richard Leventer, Paul Lockhart, Zornitza Stark, Tiffany Boughtwood and Ilias Goranitis.
*also supported by Melbourne Genomics Health Alliance