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

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.

Short Communication: Lived experience perspectives on genetic testing for a rare eye disease

“…Reproductive planning was cited as an important factor influencing the decision-making process of the study’s participants. This finding resonates with a recent study exploring the experiences of individuals with intellectual disabilities, where they identified potential benefits of genetic testing as gaining a better understanding of their condition, ruling out other conditions and improved access to relevant support (Strnadová et al 2023 ). A participant in the current study conveyed a desire to undergo genetic testing and participate in research to contribute to advancing knowledge that could alleviate the burden of the condition for future generations.…”

The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability

“…However, as emphasised by Robert Strike, recipient of the Medal of the Order of Australia (OAM) and co-founder of Self Advocacy Sydney, an organisation that empowers people with intellectual disability to speak up for themselves, “Intellectual disability is not an inability to think!” ( 2 , 3 ). Intellectual disability is also not an inability to feel and remember experiences, as evidenced by GeneEQUAL research ( 4 ). GeneEQUAL is an inclusive research program at the University of New South Wales, Sydney, that aims to improve genetic healthcare for people with intellectual disability ( 5 ).…”

Equitable and accessible informed healthcare consent process for people with intellectual disability: a systematic literature review

“…Systemic issues with healthcare delivery systems have resulted in access barriers for people with intellectual disability, 19 despite the disability discrimination legislation in many countries who are signatories to the United Nations (UN) Convention on the Rights of Persons with Disabilities. 20 Patients with intellectual disability are not provided the reasonable adjustments that would enable them to give informed consent for medical procedures or interventions, 21 22 despite evidence that many people with intellectual disability have both the capacity and the desire to make their own healthcare decisions. 21 23 …”

“…20 Patients with intellectual disability are not provided the reasonable adjustments that would enable them to give informed consent for medical procedures or interventions, 21 22 despite evidence that many people with intellectual disability have both the capacity and the desire to make their own healthcare decisions. 21 23 …”

“…24 However, current health systems have consistently failed to provide this. 21 25 To address this gap, we must first understand the factors that contribute to inequitable and inaccessible consent. To the best of our knowledge, the only current review of informed consent for people with intellectual disability is an integrative review by Goldsmith et al .…”