Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with...

People with intellectual disability face significant barriers to accessing genetic healthcare, including during appointments. Many adults with intellectual disability are denied opportunities to discuss genetic testing that could improve their health and well-being. This study follows best practice in inclusive research, with co-researchers with intellectual disability co-leading alongside educational, disability and clinical experts to co-design and implement a respectful, accessible and inclusive national model of genetic healthcare.

This three-phase qualitative study positions people with intellectual disability as active researchers and partners throughout. Phase 1 will identify barriers and enablers to genetic healthcare for people with intellectual disability by engaging with approximately 100 participants-people with intellectual disability (with and without genetic testing experience), families/support people and genetic healthcare professionals-through interviews, focus groups, arts-based methods and yarning circles. Phase 2 will co-design and evaluate Guiding Principles, providing solutions to identified barriers and leveraging identified facilitators. Phase 3 will develop practical resources using workshops across Australia, guided by three Community Engagement Groups, including people with intellectual disability, families/support people and healthcare providers. This phase will also investigate strategies to optimise the national roll-out and implementation of resources among health professionals, people with intellectual disability and their families/carers. Aboriginal and Torres Strait Islander research methods are integrated throughout, led by Indigenous researchers.

Ethics approval has been granted by UNSW Sydney Human Research Ethics Committee (HC230353) and the Australian Institute of Aboriginal and Torres Strait Islander Studies (REC-0284). Participants will provide written consent using Easy Read or plain English materials. Findings will be disseminated through journal articles, conferences, websites and accessible formats, including Easy Read summaries and videos.See the Graphical Abstract for a visual summary in online supplemental file 1.