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

Abstract

With advances in gene‐based therapies for heritable retinal diseases, primary eye care clinicians should be informed on ocular genetics topics. This cross‐sectional survey evaluated knowledge, attitudes, and concerns regarding genetic testing and gene therapy for retinal diseases among optometrists in Australia and New Zealand. Survey data included practitioner background, 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. Responses were received from 516 optometrists between 1 April and 31 December 2022. Key perceived barriers to accessing genetic testing were lack of clarity on referral pathways (81%), cost (65%), and lack of treatment options if a genetic cause is identified (50%). Almost all respondents (98%) believed that ophthalmologists should initiate genetic testing for IRDs and fewer understood the role of genetic counsellors and clinical geneticists. This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

“…Within the last five years, genetic testing for IRDs has become more accessible within mainstream medicine 30 , 31 and through research programs 10 , 32 – 34 , and gene and cell therapies have been developed 6 . With improved access to diagnostic genetic testing, it is important to evaluate and enhance the genomics literacy of eye care professionals to manage expectations and meet their information needs 36 . Diversity in genetic counselling experiences may be more apparent in regions with inequitable access to genetic counsellors and genetic services 37 .…”

Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals

“…Furthermore, clinicians who are well-informed about Stickler Syndromes can provide valuable guidance towards genetic testing and counselling for affected individuals and their families, which has a major impact on ongoing clinical management and family planning decisions. 26 Australia has a fragmented healthcare system, where affected individuals and families often receive care from healthcare professionals across different settings depending on presentation. A fragmented healthcare system, where different healthcare sectors operate independently, limits opportunities for collaboration and posits a barrier to coordinated care delivery.…”