Background

Clinical genetics has evolved significantly to become an efficient and effective means of diagnosing disease. Genetic treatments are now being developed which are showing promising results. However, ophthalmic patients are not utilizing genetic testing as part of their diagnostic workups. This paper explores the patient experience at the Ocular Genetics Clinic (OGC) at the University of Arkansas for Medical Sciences (UAMS) Jones Eye Institute and discusses reasons why patients continue to not pursue genetic testing.

Materials and methods

We performed a retrospective chart review to understand the main reasons why patients were referred to the OGC between 2009 and 2018, with a detailed analysis of why patients did not pursue genetic testing.

Results

Patients mainly did not undergo testing due to the cost of testing. However, patient availability, patient interest, and diagnostic workup also drove a significant amount of this lack of testing.

Conclusions

Ocular genetic testing is becoming an increasingly beneficial tool for diagnosing ocular disease. However, to date, patients do not utilize this service fully. At the OGC, there are several main drivers for this lack of testing, namely finances, interest/availability, and diagnostic workup. As more ocular genetics clinics are established, it will be imperative to address reasons for forgoing genetic testing and to develop strategies to encourage patients to pursue this testing.

中文翻译：

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第三眼遗传学诊所的诊断基因检测率。

背景

临床遗传学已显着发展，已成为诊断疾病的有效手段。现在正在开发基因治疗，其显示出令人鼓舞的结果。但是，眼科患者并未将基因检测作为诊断检查的一部分。本文探讨了在阿肯色大学医学科学（UAMS）琼斯眼科研究所眼遗传学诊所（OGC）的患者经历，并讨论了为什么患者继续不进行基因检测的原因。

材料和方法

我们进行了回顾性图表审查，以了解为何在2009年至2018年之间将患者转诊至OGC的主要原因，并详细分析了患者为何不进行基因检测的原因。

结果

由于测试成本，患者主要不进行测试。但是，患者的可利用性，患者的兴趣以及诊断检查也导致了这种缺乏测试的现象。

结论

眼部基因检测正成为诊断眼部疾病的越来越有用的工具。但是，迄今为止，患者还没有充分利用这项服务。在OGC中，缺乏测试的主要驱动因素是财务，利息/可用性和诊断检查。随着越来越多的眼科遗传学诊所的建立，迫切需要解决放弃基因检测的原因，并制定鼓励患者进行这种检测的策略。