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Researchers say there is a considerable hidden cost to inherited retinal disease, which often impacts a person’s ability to work and increases their need for support services.
The societal costs associated with inherited retinal disease have been estimated at up to $1.56 billion a year, according to new research, resulting in a huge community burden.
The study, published in The Medical Journal of Australia, found inherited retinal disease carries significant health and societal costs for people with these conditions as well as their families.
The health costs relate directly to the health care system, including pharmaceuticals, while societal costs comprise all other costs, including income loss and government services such as the National Disability Insurance Scheme (NDIS).
Inherited retinal diseases are genetic conditions that lead to progressive loss of vision or, in some cases, complete blindness.
They are the leading cause of blindness in working age adults in Australia, affecting around 1 in 4000 people.
The research also found there is a lack of comprehensive information about the real extent of these costs in Australia.
Modelling the hidden costs
Researchers from Macquarie University and the University of Sydneyhave estimated the overall lifetime cost of inherited retinal diseases using a microsimulation model.
Research contributor Dr Alan Ma from the University of Sydney said they analysed both primary and administrative data from a group of people with these conditions and their carers.
“There is an often overlooked ‘invisible’ societal cost to blindness that needs to be taken into account in any health economic analysis for this, and many other related genetic conditions,” Dr Ma said.
“Many studies focus on the costs of treatment and health care costs alone, which doesn’t capture the full picture of the impact of these diseases on peoples’ lives, and therefore on society as a whole.”
The true costs
The research findings estimated a lifetime cost of $5.2 million per person with an inherited retinal disease, which equated to $781 million to $1.56 billion per year nationally.
87% of those costs were societal – related to government support such as the NDIS, and loss of income for people with inherited retinal diseases and their families.
The three highest lifetime cost items estimated were:
- $1.4 million in lost income for people with these conditions
- $1 million in lost income for carers and spouses
- $1 million in government social spending (including NDIS).
The actual rates could be even higher, as the study included a higher proportion of women than men as participants.
“The study showed that for a rare genetic disease, societal costs are much larger than health costs,” said Joshua Kraindler, research fellow at the Macquarie University Centre for Economic Impacts of Genomic Medicine.
“Often when examining the cost-effectiveness of new treatments, change in quality of life from a treatment is compared to change in costs from a treatment.
“In this cohort, the change in societal costs from a new treatment, such as reduced use of government services, may be much larger than change in health costs.
“If these societal costs are not considered, it may overestimate the total costs of new treatments.”
The need for employment support
The study found people with inherited retinal diseases experience significant income losses, exceeding $44 000 per year for people aged 50–59 years.
Study participants who were surveyed reported working less due to their condition, or leaving the workforce entirely.
Spouses were also impacted in their ability to undertake paid work due to carer responsibilities.
As a result of these employment challenges, inherited retinal diseases can lead to increased poverty and reduced quality of life.
The research findings suggest that helping people with these conditions s maintain employment could improve societal outcomes.
“We would like to see further research on what could assist workforce participation for both patients and families,” Joshua Kraindler told InSight+.
“This came through in patient and carer interviews, with the data backing this up. Patients highlighted issues that led to them dropping out of the workforce, such as difficulty driving in darkness, and vision issues meaning they could do longer do the work that they had qualifications and experience for.”
The value of genetic research
The researchers argue that societal costs must be considered when evaluating the cost-effectiveness of future interventions.
Ophthalmologist Professor Robyn Jamieson, Head of the Specialty of Genomic Medicine at the Children’s Hospital at Westmead Clinical School, hopes for more research opportunities to improve the genomic diagnostic rate for people with these conditions and develop novel genetic therapies.
“For almost all inherited retinal diseases bar one (Luxturna, Novartis), no therapy is currently available,” Professor Jamieson said.
“We undertook this study as we were aware that many patients and their families with inherited retinal diseases were struggling to receive a genetic diagnosis, so that they could be considered for clinical trials and therapies, or their gene could be considered for research studies to develop therapies for these conditions.
“We realised that for advances to occur for these patients and families, there needed to be an understanding of the costs and impacts of their conditions on the health care system, themselves and society as a whole.”
Professor Jamieson said more research is needed to help people with this condition.
“We wish to emphasise the importance of the diagnostic and research needs of those affected with [inherited eye diseases] and other genetic eye diseases.”
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