Prof David Mackey, Prof Margaret Otlowski , A/Prof Kathryn Burdon, Dr Seyhan Yazar, Dr Fred Chen, Dr Ashwin Mallipatna

Synopsis: Genetic tests are more widely accessible to patients than ever before and ophthalmolo- gists now face the dilemma of interpreting a genetic test report funded by the patients them- selves. Genetic information has the potential to influence multiple facets of clinical care and therapy for ophthalmological diseases. From genomic diagnostics, risk prediction and genetic counselling to gene-editing and gene therapy, the understanding of the genetic contribution to disease is transforming the health care landscape. In this symposium we will explore some of the issues surrounding the use of genomics in ophthalmology and demonstrate how cutting edge genomics research across a range of disciplines is leading to improved diagnostics and novel therapeutic approaches. Genomic approaches to research and diagnostics lead to identification of not only the disease causing mutation, but also in some instances incidental findings relating to nonophthalmological disease and variants of unknown significance. These groups of variants lead to challenges both in interpreting data and communicating risk to patients. We will discuss the ethical and legal issues relating to return of genomic results and incidental findings including appropriate circumstances for returning incidental findings. Through the lens of inherited retinal disease and paediatric cataract we will explore tools and approaches to determining the role of variants of unknown significance identified in the diagnostic and research laboratories. Such approaches include deep phenotyping through multimodal imaging for natural history studies, retinal organoid disease modelling, and animal and cell-based models of disease. These tools have direct relevance to development of novel therapies based on genetic understanding of dis- ease. The identification of the Retinoblastoma gene has transformed our understanding of the aetiology of this devastating disease; genetic testing is now routinely available for patients and families. We will present an overview of recommended screening and surveillance for retinoblas- toma survivors and risk of disease in their offspring. With an increasing number of survivors, the importance of recognising these risks and referring appropriately to genetic and familial cancer services cannot be underestimated.
Speakers and Topics:
Prof David Mackey – From discovery to gene therapy: the future is closer than you think
Prof Margaret Otlowski – Return of incidental findings to patients from genetic studies: case examples and emerging clinical practice