期刊
CLINICAL OPHTHALMOLOGY
卷 16, 期 -, 页码 1127-1138出版社
DOVE MEDICAL PRESS LTD
DOI: 10.2147/OPTH.S353787
关键词
inherited retinal disease; retinitis pigmentosa; macular dystrophy; genetic testing
资金
- National Health and Medical Research Council (NHMRC) MRFF Fellowship [1151055]
- National Health and Medical Research Council (NHMRC) EL2 Investigator Grant [1195713]
- National Health and Medical Research Council of Australia [1195713] Funding Source: NHMRC
The prevalence of genetic testing for inherited retinal diseases (IRDs) in a tertiary practice setting was assessed in this study. The results showed a low uptake of testing (around 10%) in the Australian private practice IRD cohort, reflecting historical management patterns and accessibility of genetic counselling and testing. Younger patients and those with a longer duration of care were more likely to have received genetic testing.
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.
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