Krauss Emily, Macher Jared, Capasso Jenina, Bernhardt Barbara, Ali-KhanCatts Zohra, Levin Alex, Brandt Rachael
Duke Eye Center, Duke University School of Medicine, Durham, North Carolina, USA.
University of Rochester School of Medicine, Rochester, New York, USA.
Ophthalmic Genet. 2022 Oct;43(5):633-640. doi: 10.1080/13816810.2022.2096243. Epub 2022 Jul 7.
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. There is scant literature on the experiences of genetic testing in patients with RP.
Patients with a clinical diagnosis of RP who received genetic testing at the Wills Eye Ocular Genetics clinic between 2016 and 2020 were recruited. Telephone interviews were conducted using a semi-structured guide designed to elicit participant experiences with genetic testing. A thematic analysis was performed to describe patterns in participant responses.
Twelve patients participated. Seven participants identified as female and five as male, with ages ranging from 22 to 70. Ten patients had positive genetic test results, while two had negative genetic testing. Reported motivations for genetic testing included qualification for clinical trials (58% of total participants), determination of etiology or usal gene (50%), reproductive concerns (50%), and prognostic outlook (50%). Most participants (75%) expressed satisfaction about their decision to pursue genetic testing. Participants with both positive and negative genetic testing reported persistent uncertainty regarding their prognosis for visual decline (50%). Genetic confirmation of disease leads to initiation of safety and vision-protecting health behaviors (42%).
Patients with RP are generally satisfied with their testing experience, despite approaching testing with a wide range of motivations and expectations. Future research can leverage this methodology to identify targets for improvement in pre- and post-test education and counselling.
视网膜色素变性（RP）是一种具有遗传异质性的视网膜营养不良，可导致进行性视力丧失。关于RP患者基因检测经历的文献很少。
招募了2016年至2020年间在威尔斯眼科遗传学诊所接受基因检测且临床诊断为RP的患者。使用半结构化指南进行电话访谈，以了解参与者的基因检测经历。进行主题分析以描述参与者回答中的模式。
12名患者参与。7名参与者为女性，5名参与者为男性，年龄在22岁至70岁之间。10名患者基因检测结果为阳性，2名患者基因检测结果为阴性。报告的基因检测动机包括符合临床试验条件（占总参与者的58%）、确定病因或常见基因（50%）、生殖方面的担忧（50%）以及预后前景（50%）。大多数参与者（75%）对他们进行基因检测的决定表示满意。基因检测结果为阳性和阴性的参与者都报告了对视力下降预后的持续不确定性（50%）。疾病的基因确诊会促使人们开始采取安全和保护视力的健康行为（42%）。
尽管RP患者进行基因检测的动机和期望各不相同，但他们总体上对检测经历感到满意。未来的研究可以利用这种方法来确定改善检测前和检测后教育及咨询的目标。
