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"I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare. | LitMetric

AI Article Synopsis

Article Abstract

There is limited research exploring the knowledge and experiences of genetic 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. The findings were discussed in a focus group with ten adults with intellectual disability and in three multi-stakeholder advisory workshops, contributing to the validity and trustworthiness of the findings. Five main themes emerged: (i) access to genetic healthcare services is inequitable, with several barriers to the informed consent process; (ii) the experiences and opinions of people with intellectual disability are variable, including frustration, exclusion and fear; (iii) genetic counselling and diagnoses can be profoundly impactful, but translating a genetic diagnosis into tailored healthcare, appropriate support, peer connections and reproductive planning faces barriers; (iv) people with intellectual disability have a high incidence of exposure to trauma and some reported that their genetic healthcare experiences were associated with further trauma; (v) recommendations for a more respectful and inclusive model of genetic 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 genetic healthcare for people with intellectual disability.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474088PMC
http://dx.doi.org/10.1038/s41431-023-01282-3DOI Listing

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