Understanding the social & economic costs of care

Families feeling the cost of care

The hidden costs to families of dealing with the challenges that accompany intellectual disability can be considerable, ranging from social isolation to forgone superannuation savings.

While 600,000 people live with intellectual disability, it is their families that meet many considerable – and until recently – unquantified costs. Technology, and advances using genomic testing, have led to important changes.

More targeted allocation of resources through government funded health services has the potential to allow families to receive a diagnosis, inform carrier screening for genetic disorders and allow parents to make decisions about their reproductive options and to access earlier treatment for their children.

Distinguished Professor Deborah Schofield leads a team straddling several research and health organisations that have collaborated on economic models to measure both the social and economic impacts of intellectual disability. Understanding these impacts can inform public policy, improve access to diagnostic testing, psychosocial and financial support for families and ultimately allow access to early therapies.

Starting in 2016, research tapped into newly available information using Whole Genome Sequencing (WGS) as part of its approach, which provided data for a new diagnostic pathway model. More than $23m has now been channelled into programs and resources to improve health outcomes for families affected by intellectual disability. This includes tailored treatments, better management of risk, and screening for parents at risk of passing on the condition to their children.

While many costs borne by society to support those living with intellectual disability were largely invisible before this work, costs were felt acutely by families who cared for those living with complex and demanding health conditions where parents may unknowingly have been carriers.

“There would often be a close relative with the same condition and the family didn’t know why,” Prof Schofield says.

Recognising the prevalence, life-long nature and frequent recurrence in families of intellectual disability was at the heart of the research. Many parents had to withdraw from the workforce, had difficulty accessing support services, and were socially and economically marginalised as they cared for their children.

The demands impacted not only on their ability to earn an income, but to save, or prepare for retirement through superannuation contributions. This was often in tandem with considerable mental and physical health issues as they struggled to provide round the clock support, particularly in regional areas with limited services. Carers were also found to often experience chronic pain associated with lifting their disabled family member. Further, people with intellectual disability commonly suffer from mental health and behavioural disorders.  It is important that these quality-of-life impacts are also captured.

Many earlier studies had focused on mild intellectual disability, and the impact on families had been dramatically underestimated.

Limited employment opportunities for those with intellectual disability and their carers, as well as considerable costs associated with services outside the health system such as special education and lifelong residential support, has also been underestimated.

“Ninety five percent of costs were outside the health system, and intellectual disability caused by genetic disorders has now been recognised as a very expensive disorder,” Prof Schofield says.

Now that the right questions have been asked, we can model the economic impacts on families, government and at the macro level GDP.

“A molecular diagnosis resulting from genomic testing means there is the potential to access targeted therapies specific to the patient’s condition, in some cases with remarkable benefits such as the case of some metabolic disorders. Families can use the information to access the National Disability Insurance Scheme and support groups providing a network for affect families from which they can also learn from others’ experience of how to manage a condition.

Together with extensive data from patients with intellectual disability and their families through the Genetics of Learning Disability Service, the research reflects the lived experience of participants and carers.

So far about 2000 genes have been identified in causing intellectual disability, with a similar number still expected to be identified.

The EPIC-ID Study (The Economic and Psychosocial Impact of Caring for families affected by intellectual disability) was led by Distinguished Professor Deborah Schofield along with investigators from MQBS, UNSW, USYD, and partners from the Genetics of Learning Disability Service (GoLD), NSW health pathology Randwick genomics, The Clinical Genetics Service, Sydney Children’s Hospitals Network – Randwick, and Genetic Alliance Australia (GAA).