Over the past 3 decades a series of discoveries in the specialty of ophthalmology have been central to furthering the understanding of genetic disease. However, currently ophthalmic genomics is seen as a niche area practised by a small number of highly trained experts; but things are changing. As part of the NHS England Long Term plan there is now a major initiative to develop personalised approaches to medicine with delivery of 500,000 individuals offered whole-genome sequencing (WGS) by 2023 [1]. As such, genomic testing in ophthalmology is due to change significantly with the introduction of a national directory of approved genetic tests, three appointed laboratory providers of specialised ophthalmic genomic testing and importantly, centralised funding for most rare disease testing. The other three home nations are also at advanced stages of planning in this area. Therefore, now it is an opportune time to consider how to integrate genomics into mainstream ophthalmic practice. A wide range of discoveries—from rare to common

中文翻译：

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英国将基因组学整合到临床眼科服务中

在过去的 3 年里，眼科专业的一系列发现对于进一步了解遗传疾病至关重要。然而，目前眼科基因组学被视为由少数训练有素的专家实践的利基领域。但事情正在发生变化。作为 NHS 英格兰长期计划的一部分，现在有一项重大举措来开发个性化医学方法，到 2023 年为 500,000 人提供全基因组测序 (WGS) [1]。因此，随着国家批准基因检测目录的引入、三个指定的专业眼科基因组检测实验室提供商的引入，以及最重要的罕见疾病检测集中资金的引入，眼科基因组检测将发生重大变化。其他三个母国也处于该领域的高级规划阶段。因此，现在是考虑如何将基因组学融入主流眼科实践的好时机。广泛的发现——从罕见到常见