GeneEQUAL: Genomics education inclusive of people with intellectual disability

NSW Ministry of Health and National Health and Medical Research Council

Genomics has revolutionised our understanding of the causes of intellectual disability and holds significant promise to improve health outcomes. Medicare funding is now available for genomic testing, and the NSW Health Genomics Strategy aims to improve access to patient care that is value-based and integrated with all parts of the health system. It highlights the need to work with people with intellectual disability as equal partners to develop services that reflect their needs and preferences in line with ethical, legal and professional standards.

However, there is virtually no evidence base about how people with intellectual disability encounter genomic healthcare services, and what they want from these services. There are also no relevant educational resources designed for people with intellectual disability anywhere in the world. Strnadová et al.’s (2022) extensive scoping review screened over 1,000 relevant studies and found that only seven even attempted to directly engage people with intellectual disability about their experiences and opinions of genetics and/or genetic testing and/or genetic counselling. None of these studies had been conducted in Australia.

The GeneEQUAL project, initially 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. The team also includes co-researchers Julie Loblinzk OAM, Adjunct Lecturer at UNSW Sydney and Board Member of Self-Advocacy Sydney, and Skie Sarfaraz, Team Leader for the Leadership Peer Support program at Self-Advocacy Sydney.

GeneEQUAL will provide a crucial evidence base to guide subsequent co-development of accessible genetic resources to improve the wellbeing of people with intellectual disability through better inclusion in their own genetic healthcare.

In 2022, GeneEQUAL was awarded $1.6 million in funding over five years from the National Health and Medical Research Council (NHMRC) to continue their work.