Faculty of Medicine, Dentistry and Health Sciences, Department of Optometry and Vision Sciences, University of Melbourne, Parkville, Victoria, Australia.
Faculty of Medicine, Dentistry and Health Sciences, Department of Surgery (Ophthalmology), University of Melbourne, Parkville, Victoria, Australia.
Clin Genet. 2024 Jan;105(1):34-43. doi: 10.1111/cge.14415. Epub 2023 Aug 8.
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.
随着遗传性视网膜疾病基因治疗的进步，初级眼科临床医生应该了解眼部遗传学相关的知识。本横断面调查评估了澳大利亚和新西兰验光师对视网膜疾病的基因检测和基因治疗的知识、态度和关注点。调查数据包括从业者背景、对单基因遗传性视网膜疾病 (IRDs) 和年龄相关性黄斑变性的基因检测的态度和实践，以及眼部遗传学和基因治疗的知识。2022 年 4 月 1 日至 12 月 31 日期间，共收到 516 名验光师的回复。认为基因检测的主要障碍包括：转诊途径不明确 (81%)、费用 (65%) 以及如果确定遗传原因，缺乏治疗选择 (50%)。几乎所有的受访者（98%）都认为眼科医生应该为 IRDs 进行基因检测，而较少人了解遗传咨询师和临床遗传学家的作用。本研究发现，澳大利亚和新西兰的验光师对眼部遗传学相关知识非常感兴趣。然而，知识差距包括转诊途径以及对基因检测和基因治疗结果的认识。解决获取障碍并促进跨学科网络之间的知识共享，可以为初级眼保健中的基因教育议程奠定基础。
