Research indicates a larger role for optometry in genetic testing

A recent survey on ocular genetics completed by the University of Melbourne found optometrists have a high interest in genetic testing and gene therapy, but knowledge gaps around referral pathways still need to be bridged to keep primary eye care clinicians informed.

In the rapidly evolving field of genetic medicine, researchers at the University of Melbourne set out to evaluate the knowledge, attitudes, and concerns of a cross-section of over 500 optometrists across Australia and New Zealand regarding genetic testing and gene therapy for retinal diseases.

In a survey that ran from April to December 2022, the team asked optometrists about their attitudes and practices towards genetic testing for monogenic inherited retinal disease (IRDs) and age-related macular degeneration, and knowledge of ocular genetics and gene therapy. A significant 81% of respondents reported a lack of clarity on referral pathways as a barrier to accessing genetic testing, while 50% indicated a lack of treatment options if a genetic cause is identified. As high as 98% of respondents believed that ophthalmologists should be the ones to initiate genetic testing for IRDs, and many did not understand the role of genetic counsellors and clinical geneticists. Respondents also reported a perceived barrier between interdisciplinary networks.

‘With emerging gene therapies being developed for IRDs, optometrists themselves should be able to advise affected patients on ways to access genetic testing and new clinical trials and treatments,’ said Dr Alexis “Ceecee” Britten-Jones, the lead researcher involved with the survey.

Over 61% of respondents agreed that genetic testing for eye diseases is as important as that for cancers, and 55% agreed or strongly agreed that diagnostic genetic testing should be routine practice for IRDs. However, despite 60% of respondents suggesting that they could play a role in providing ocular genetics discussions, a majority also did not feel confident discussing topics relating to genetic testing and gene therapy with their patients.

‘Over 70% of optometrists felt that they could, at most, answer a few basic questions about the implications of Mendelian inheritance patterns on family planning and different reasons for having genetic testing,’ said Ceecee.

In order for optometrists to better support patients with IRDs, and to facilitate discussions about genetic testing and gene therapy, the published report outlines several key areas for optometry education to focus on. According to the report, future education should focus on understanding the processes for patients to access genetic testing, the role of genetic providers such as genetic counsellors and geneticists, and the expected outcomes of genetic testing and gene therapy treatments once patients have been referred.

In response to the perceived barriers within interdisciplinary networks, Ceecee explained that, as primary eye care clinicians, optometrists should be informed on ocular genetics topics, and there are many ways optometrists can directly or indirectly support patients with genetic services.

‘In research settings optometrists are already involved in screening patients who are potentially eligible for clinical trials. Likewise, optometrists are often the first to see patients with IRDs from the community and should be able to update them on emerging research and therapies.

‘In rural communities without easy access to ocular genetics services, optometrists could contribute to multidisciplinary teams by providing clinical information, like retinal imaging data, to assist with virtual consults. Promoting interdisciplinary communication and networks is essential to improve the clinical care of people with IRDs,’ said Ceecee.

Ceecee will speak further about the knowledge gaps identified in her research alongside fellow researcher Lauren Ayton at O=MEGA23/WCO4, which will take place in Melbourne from 8–10 September 2023.

Read the full research report here.

Optometrists who are interested in referring patients to the IRD research registry can contact the researchers on IRD@groups.unimelb.edu.au.