Three-year outcomes of a multidisciplinary ocular genetics clinic: Diagnostic yield and workflow insights from an Australian tertiary center

Background

Genetic diagnosis of inherited retinal diseases (IRDs) is challenging due to significant disease heterogeneity and the many potential gene loci. The Royal Victorian Eye and Ear Hospital Ocular Genetics Clinic (OGC) was established in 2018 to streamline IRD diagnosis in Victoria, Australia. This study audited the activities of the OGC during its first three years of operation, focusing on clinical and genetic diagnoses, and identifying areas for improvement in clinic workflow. The aim was to highlight how an integrated multidisciplinary care model – combining ophthalmology, clinical genetics, and genetic counselling – can address gaps in diagnostic access, care coordination and variant interpretation.

Methods

Retrospective chart review of suspected or confirmed IRD patients assessed in the OGC between December 2018 to December 2021. Genetic testing approach was determined by the OGC and tailored to each patient’s clinical presentation, in conjunction with sequencing and panel options available through funded laboratories. Demographic data, clinical information and timing between key steps within the clinical workflow were systematically recorded.

Results

Five hundred and thirty-nine patients were seen in the first three years of operation. Of the total, 249 patients (46.2 %) underwent diagnostic genetic testing, the mean age of the IRD group being 36.2 years and 51.8 % male, 219 patients (40.6 %) had an IRD phenotype. Panretinal pigmentary retinopathies were the most common phenotype (63.9 %), followed by macular retinopathies (26.9 %), stationary retinopathies (5.5 %), and hereditary vitreoretinopathies (5.5 %). Diagnostic yield of the tested cohort was 71.2 %. Comparison between 2019 and 2020-2021 revealed an overall improvement in mean time from referral to disclosure of results of 647 to 467 days (p=0.001).

Conclusion

The OGC provides patients with an accessible, holistic care model for diagnosing inherited retinal diseases. The distribution of phenotypes and diagnostic yield of genetic tests were consistent with published literature. It provides a good framework for global healthcare systems implementing an ocular genomic service, especially where subspeciality ophthalmologists and genetics services are a limited resource. Although in its early stages, there are opportunities to improve clinic workflow, and a compelling case for increased resources to support timely diagnosis, especially as emerging therapies for IRDs become available.