ArticleEuropean journal of human genetics : EJHG2023
"I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Equitable and accessible informed healthcare consent process for people with intellectual disability: a systematic literature review.BMJ quality & safety · 2024Pooled it
- Article
- "I felt like a lone ranger": experiences of Australian families living with KIF1A-Associated Neurological Disorder.Journal of community genetics · 2026Article
- Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- "It was up to me to be curious": perceptions and experiences of students with intellectual disability on genetics and health education.European journal of human genetics : EJHG · 2026Article
- What do European clinical guidelines say about genetic testing for people with neuropsychiatric disorders? A scoping review.Psychiatric genetics · 2026Article
- 'Give People More Time and Take the Time to Explain Things Properly': Cervical Screening Experiences of People With Intellectual Disability.Journal of applied research in intellectual disabilities : JARID · 2026Article
- Access to healthcare for people with intellectual disability: a scoping review.Scandinavian journal of public health · 2026Article
- Genetic testing in cerebral palsy with clinical and neuroimaging variables.Developmental medicine and child neurology · 2025Article
- Developing genetic literacy in high school students with intellectual disability: Teachers' experiences and perspectives.European journal of human genetics : EJHG · 2025Article
- Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services.Orphanet journal of rare diseases · 2025Article
- Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: "It's the more negative ones that you remember".Journal of genetic counseling · 2025Article
- Short Communication: Lived experience perspectives on genetic testing for a rare eye disease.Journal of community genetics · 2024Article
- 2023 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2024Article
- The need for co-educators to drive a new model of inclusive, person-centred and respectful co-healthcare with people with intellectual disability.Frontiers in psychiatry · 2024Article
- Social and Behavioral Genomics: What Does It Mean for Pediatrics?The Journal of pediatrics · 2024Article
- Attitude of Healthcare Providers Towards Care of People with Disabilities, in Hail Region, Saudi Arabia.International journal of general medicine · 2024Article
- International Undiagnosed Diseases Programs (UDPs): components and outcomes.Orphanet journal of rare diseases · 2023Review
- Why don't we all use genomic testing?European journal of human genetics : EJHG · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.