Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice.
Sena A GocukYuanzhang JiaoAlexis Ceecee ZhangNathan Mitchell KerrLyndell LimSimon E SkalickyRichard StawellLauren N AytonHeather G MackPublished in: Clinical ophthalmology (Auckland, N.Z.) (2022)
Genetic testing is increasingly being utilised in the work-up for patients with IRD worldwide. This large Australian private practice IRD cohort shows a low uptake of testing (around 10%), reflecting historical management patterns and accessibility of genetic counselling and testing. The results show that younger patients and those with a longer duration of care were more likely to have received genetic testing. As the importance of IRD genetic testing continues to increase, we expect to see a change in patient management within the Australian private ophthalmology system and testing rates to increase. Further research is required to identify and address clinician and patient barriers to improving genetic testing rates for IRD.
Keyphrases
- healthcare
- health insurance
- end stage renal disease
- primary care
- case report
- quality improvement
- artificial intelligence
- ejection fraction
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- optical coherence tomography
- affordable care act
- gene expression
- machine learning
- copy number
- pain management
- dna methylation
- patient reported
- men who have sex with men
- hiv testing