Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice

Area of Science:

• Ophthalmology
• Genetics
• Medical Diagnostics

Background:

• Inherited retinal diseases (IRDs) are a diverse group of genetic disorders affecting vision.
• Genetic testing is crucial for diagnosing IRDs and guiding management.
• Assessing the current utilization of genetic testing in IRD patient care is important.

Purpose of the Study:

• To evaluate the prevalence and uptake of genetic testing for inherited retinal diseases (IRDs) within a tertiary private practice in Australia.
• To identify factors associated with genetic testing in IRD patients.
• To understand barriers to genetic testing in IRD diagnosis.

Main Methods:

• Retrospective analysis of 464 patient records with diagnosed or suspected IRDs.
• Categorization of IRDs into specific types (e.g., panretinal pigmentary retinopathies, macular dystrophies).
• Review of genetic testing status, inheritance patterns, and reasons for non-testing.

Main Results:

• Only 9.5% of patients had available genetic testing results.
• Younger patients (<45 years) and those with longer care (>12 months) were more likely to have genetic testing.
• Common reasons for not undergoing testing included awaiting appointments or patient refusal; 69.2% of records lacked documentation of testing status.

Conclusions:

• The uptake of genetic testing for IRDs in this Australian private practice cohort is low, potentially due to historical practices and accessibility issues.
• Increasing recognition of IRD genetic testing's importance is expected to drive future changes in patient management and testing rates.
• Further research is needed to address clinician and patient barriers to improve genetic testing rates for IRDs.