“I am not a number!” Opinions and preferences of people with intellectual disability about genomic healthcare.

Abstract

Abstract There is limited research exploring the knowledge and experiences of genomic healthcare from the perspective of people with intellectual disability. This study, conducted in New South Wales (Australia), addresses this gap. Eighteen adults with intellectual disability and eight support people were interviewed in this inclusive research study. The transcribed interviews were analysed using inductive content analysis. Five main themes emerged: (i) access to genomic healthcare services is inequitable, with several barriers to the informed consent process; (ii) the experiences and opinions of people with intellectual disability are variable, with some feeling frustrated, excluded and frightened; (ii) genomic counselling and diagnoses can be profoundly impactful, but many faced barriers translating a genomic diagnosis into tailored healthcare, appropriate support, peer connections and reproductive planning; (iv) people with intellectual disability have a high incidence of exposure to trauma and can find genomic healthcare emotionally triggering; (v) recommendations for a more respectful and inclusive model of genomic healthcare. Co-designed point-of-care educational and consent resources accompanied by tailored professional education for healthcare providers are required to improve the equity and appropriateness of genomic healthcare for people with intellectual disability.