ABSTRACT

Background

Clinical assessment of patients with IRD often includes thorough documentation of medical and ocular history in addition to genetics related practices like assessing the family history and genetic testing. Previous studies have demonstrated the genetic counseling needs of IRD patients are not being fully met, but there is a lack of literature showing the current genetics practices of ophthalmologists and optometrists in the U.S. The goal of this study is to assess the current genetics related practices being provided to patients with IRD.

Methods

Data from 51 survey participants were included in the analysis. The survey assessed their current practices of risk counseling to patients with IRD, their confidence level of ocular genetics, and resources they may utilize in the future. Descriptive statistics were used to summarize quantitative data while data from open ended responses were coded using thematic analysis generated through grounded theory.

Results

Responses suggest some discussion of genetics is occurring with IRD patients. However, there are limitations to these discussions given time constraints and lack of understanding of the genetics of IRDs and available testing. The study also revealed that there are minimal referrals to genetic counseling being made at this time, though there is interest in working with genetic counselors. Additionally, there is a need for continued education regarding the genetics related to IRDs.

Conclusion

Future larger-scale studies are warranted to provide additional insight into these genetics related practices and where genetic counselors are needed in this field.

中文翻译：

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遗传性视网膜变性当前的遗传学实践-需求评估。

摘要

背景

对IRD患者的临床评估通常包括彻底的医学和眼科病历记录，以及与遗传学相关的实践，例如评估家族史和基因检测。先前的研究表明IRD患者的遗传咨询需求未得到充分满足，但是缺乏文献显示美国眼科医生和验光师的当前遗传学实践。该研究的目的是评估当前与遗传学相关的实践。提供给IRD患者。

方法

分析中包括了来自51个调查参与者的数据。该调查评估了他们目前对IRD患者进行风险咨询的做法，他们对眼遗传学的置信度以及他们将来可能使用的资源。描述性统计用于总结定量数据，而开放式响应中的数据则使用基于扎根理论的主题分析进行编码。

结果

反应表明IRD患者正在对遗传学进行一些讨论。但是，由于时间限制以及对IRD遗传学和可用测试的了解不足，这些讨论存在局限性。该研究还表明，尽管有兴趣与遗传咨询师合作，但目前很少有人推荐进行遗传咨询。另外，需要继续进行与IRD相关的遗传学教育。

结论

将来有必要进行更大规模的研究，以提供有关这些遗传学相关实践以及该领域需要遗传咨询师的更多见解。