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

Polygenic risk scores are increasingly available to consumers to provide an estimate of the genetic contribution to health conditions. However, healthcare providers report limited knowledge and confidence using polygenic risk scores. Clinical implementation necessitates educational programmes to support clinicians to integrate this new test into practice. This study aimed to identify healthcare providers’ learning needs and preferences for polygenic risk education to inform the design of tailored education initiatives.

This pragmatic qualitative study used focus groups to capture healthcare providers’ perspectives. To ensure informed responses, genetic healthcare providers with prior experience using polygenic risk scores, and/or who had completed polygenic risk education were recruited to participate in focus groups or interviews (n=30). There were no exclusions based on country of practice. Recordings were transcribed and content analysis conducted to identify learning needs. Themes related to education engagement were mapped to the capability, opportunity and motivation model for behaviour change.

Among this cohort of experienced providers, residual gaps existed in polygenic risk-related knowledge, skills and local guidelines to inform practice. Learning needs encompassed: (i) polygenic risk-specific knowledge, and (ii) communication skills needed to discuss results and facilitate risk management. Themes related to engaging with polygenic risk education mapped to capability included awareness of, and access to educational resources and initiatives, including practice resources and position statements from professional bodies. Time-poorness was a primary barrier to accessing education. Opportunities comprised of building on existing workplace training and activities such as multidisciplinary team meetings and journal clubs. All participants noted that motivation for completing polygenic risk training was primarily driven by a desire to improve patient-centred care and clinical outcomes.

This study highlights priority learning areas to inform the development of tailored polygenic risk education initiatives, and resources and delivery strategies that meet the identified needs. Participants’ expert insights reveal potential barriers as well as solutions to engaging healthcare providers with polygenic risk score education to ultimately facilitate implementation into clinical practice.