Genomics has revolutionised our understanding of the causes of intellectual disability. Medicare funding is now available for genomic testing, while the NSW Health Genomics Strategy aims to improve access to patient care.
However, there is virtually no evidence base about how people with intellectual disability encounter genomic healthcare services, and what they want from them. There are also no relevant educational resources designed for people with intellectual disability anywhere in the world.
This project, funded by the NSW Ministry of Health, will address these gaps. The Disability Innovation Institutes Professor Iva Strnadová and Professor Jackie Leach Scully are working with Dr Emma Palmer (Sydney Children’s Hospital Network, School of Women’s and Children’s Health UNSW) and Jackie Boyle (NSW Genetics of Learning Disability service) to explore the knowledge, experiences and perspectives of people with intellectual disability who access NSW genomic testing services.