Cascade testing in intellectual disability: social and economic impact

Intellectual Disability (ID) is among the most important unmet challenges in health care due to its prevalence, life-long nature, and frequent recurrence within families. In Australia, 600,000 people have an ID . It’s estimated that about 3 in 1000 (approximate 15,000 people under the age of 15 in Australia) individuals in the community have a moderate to severe intellectual disability making independent living impossible and requiring significant ongoing support from carers and the community.
Families with a child with ID face many social and economic impacts, including: financial pressure, relationship strain, poorer parental health and uncertainty about family planning.
Aims
• To determine the economic impacts of reproductive information for diagnosis of familial intellectual disability for first and second degree relatives
• To determine the economic impacts of earlier diagnosis resulting from paediatrician referral for genomic sequencing within the mainstreaming of genomics for intellectual disability in NSW
• To determine the impact on direct health costs and indirect costs (e.g. welfare payments, taxation revenue, residential care, and the National Disability Insurance Scheme (NDIS)
• To improve the health and economic circumstances of families at risk of heritable forms of ID