The Economic and Psychosocial Impact of Caring for families affected by intellectual disability (THE EPIC-ID Study)

Description of impact *

A) RESEARCH IMPACT STORY CATEGORY

What was researched
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. The aim of this project is to develop a new microsimulation model to quantify the social and economic impacts of ID on families and government and model a new diagnostic pathway using Whole Genome Sequencing (WGS). We collected extensive primary data on patients with ID and their families through the GoLD service (NSW Health to populate the model and model assesses the social and economic benefits realised by advances in WGS.

When research occurred
2016 – present

Who conducted the research
Led by MQBS Distinguished Professor Deborah Schofield along with investigators from MQBS, UNSW, USYD and partners from the Genetics of Learning Disability Service (GoLD), South Eastern Area Laboratory Services (SEALS) Genetics Laboratory, The Clinical Genetics Service, Sydney Children’s Hospitals Network – Randwick, Genetic Alliance Australia (GAA)

The greatest beneficiaries

NSW Health Genetic Services and the approximately 600,000 people with ID fand their families in NSW and across Australia

Impact nature and extent
The findings from EPIC-ID provided the economic analysis and underpinned the Hon. Greg Hunter’s (MP) announcement in 2018 of $20 million in Federal funding for preconception carrier screening. EPIC-ID also led to $3 million to establish the infrastructure for mainstreaming genomics for intellectual disability funded by NSW Health. It also led to Medicare funding for genomic sequencing for diagnosis of ID with genomic sequencing becoming routine clinical care.

Impact date	15 Jun 2016 → 14 Feb 2022
Category of impact	Health impacts, Society impacts, Policy impacts
Impact level	Adoption (early)