Shared Decision-Making for Genetic Tests With Children and Young People With Intellectual Disability: Considerations for Inclusive, Person-Centred, and Respectful Approaches.

Abstract

With over 1000 genetic causes for neurodevelopmental conditions, genetic testing (including exome sequencing) is recommended for people with intellectual disability to guide clinical care, as well as improve empowerment, connection to peer supports, and access to funded therapies. Many genetic neurodevelopmental conditions are inherited, with a parent sharing the genetic change identified in their child. However, despite showing interest in genetic medicine, many young people and adults with intellectual disability feel excluded from full participation. There is a lack of accessible resources to support people with intellectual disability in making informed choices about genetic tests and understanding their test results. There is also little training available to healthcare professionals to help them communicate with and support young people with intellectual disability and their parents about genetics. This situation reflects a broader exclusion of people with intellectual disability from equitable and respectful access to mainstream healthcare, as highlighted in the National Roadmap to Improving the Health of People with Intellectual Disability (2021) and the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (2023). In this article, we discuss key approaches and co-produced resources (i.e., resources created together with people with intellectual disability, academic researchers, healthcare professionals, and teachers) to equip healthcare professionals to empower children, young people, and parents with intellectual disability to make informed decisions about genetic testing and understand their test results. We highlight the need for inclusive, person-centred, and respectful healthcare to ensure genetic medicine is equitable and accessible.