A5030391223- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- BRCA gene mutations in cancer
- Ethics and Legal Issues in Pediatric Healthcare
- Disability Rights and Representation
New South Wales Department of Health
2021-2023
There is limited research exploring the knowledge and experiences of genetic healthcare from perspective people with intellectual disability. This study, conducted in New South Wales (Australia), addresses this gap. Eighteen adults disability eight support were interviewed inclusive study. The transcribed interviews analysed using inductive content analysis. findings discussed a focus group ten three multi-stakeholder advisory workshops, contributing to validity trustworthiness findings....
Genomic testing for a genetic diagnosis is becoming standard of care many children, especially those with syndromal intellectual disability. While previously this type specialised was performed mainly by clinical genetics teams, it increasingly being 'mainstreamed' into paediatric care. With the introduction new Medicare rebate genomic in May 2020, now available paediatricians to order, consultation genetics. Children must be aged less than 10 years facial dysmorphism and multiple congenital...
<title>Abstract</title> There is limited research exploring the knowledge and experiences of genomic healthcare from perspective people with intellectual disability. This study, conducted in New South Wales (Australia), addresses this gap. Eighteen adults disability eight support were interviewed inclusive study. The transcribed interviews analysed using inductive content analysis. Five main themes emerged: (i) access to services inequitable, several barriers informed consent process; (ii)...