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

Abstract

Background To assess the prevalence of genetic testing for inherited retinal diseases (IRDs) in a tertiary practice setting. Methods Single-centre retrospective analysis of patients with diagnosed or suspected IRD. Results Four hundred and sixty-four patient records were analysed. Patients had received care for different IRDs grouped as follows: panretinal pigmentary retinopathies (283, 61%), macular dystrophies (136, 29.3%), stationary diseases (23, 5%), hereditary vitreoretinopathies (14, 3%), and other IRDs (8, 1.7%). The suspected pattern of inheritance of patients’ IRD was predominantly autosomal recessive (205, 44.2%). Genetic testing was performed with the corresponding results available for 44 patients (9.5%). Diagnostic yield was 65.9% for the results received. Genetic test results were available mostly for younger patients (13.1% for <45 years vs 6.2% ≥45 years of age, p = 0.01) and those who received greater than 12 months of care (16% for ≥12 months vs 4% for <12 months, p < 0.01). For patients without genetic testing results, reasons include awaiting a geneticist consultation (17.9%), awaiting test results (4.5%), or patient refusal (8.4%). Most clinical records (69.2%) did not document genetic testing status. Conclusion 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.

Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey

“…Similarly, in the study by Choi et al, only 10% of carriers of a wide range of X‐linked conditions reported they had sufficient access to knowledgeable healthcare providers exploring symptoms and/or the risks associated with being a carrier 8 . Insufficient counselling was also evident through an audit of a private tertiary ophthalmology practice in Australia, whereby approximately 70% of clinical records did not document any counselling provided to patients with an IRD 20 . Whether this is due to clinical record documentation inaccuracies or is indicative of an area for improvement for clinicians remains unknown.…”

“…8 Insufficient counselling was also evident through an audit of a private tertiary ophthalmology practice in Australia, whereby approximately 70% of clinical records did not document any counselling provided to patients with an IRD. 20 Whether this is due to clinical record documentation inaccuracies or is indicative of an area for improvement for clinicians remains unknown. However, considering that 25% of carriers reported that their clinician was no help to them, there is a demand for better counselling practices by clinicians.…”

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics

“…While open‐access genetic testing programs, such as the My Retina Tracker 39 and ID YOUR IRD 40 programs in the United States, have made genetic testing more accessible in some countries, these programs have not been available in Australia until recently. A recent review of an Australian private tertiary ophthalmology practice found that genetic testing results were only available for 9.5% of 464 patient records audited 41 . Since July 2021, VENTURE participants have had access to molecular testing through sponsored testing programs, which provide a comprehensive and efficient analysis of multiple genes associated with IRDs 42 .…”

“…A recent review of an Australian private tertiary ophthalmology practice found that genetic testing results were only available for 9.5% of 464 patient records audited. 41 Since July 2021, VENTURE participants have had access to molecular testing through sponsored testing programs, which provide a comprehensive and efficient analysis of multiple genes associated with IRDs. 42 Through these programs, all VENTURE registrants have been offered the opportunity to have targeted panel testing to screen for known variants if they have not previously received a molecular diagnosis.…”

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand

“…Pre‐testing counselling is important for ensuring that patients are prepared for the implications of the results 9 . The uptake of IRD genetic testing in Australian private ophthalmology clinics is currently estimated to be around 10%, reflecting historic management patterns and access to genetic services 10 . Currently, the likelihood that a genetic test will provide an IRD diagnosis is approximately 60% 11 .…”