Strait Sydney, Loman Rebecca, Erickson Lindsay, DeBenedictis Meghan
Genetic Counseling, Augustana University , Sioux Falls, South Dakota, USA.
Department of Statistics, Augustana University , Sioux Falls, South Dakota, USA.
Ophthalmic Genet. 2020 Dec;41(6):533-538. doi: 10.1080/13816810.2020.1804943. Epub 2020 Aug 18.
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.
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.
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.
Future larger-scale studies are warranted to provide additional insight into these genetics related practices and where genetic counselors are needed in this field.
IRD患者的临床评估通常包括全面记录病史和眼部病史，以及诸如评估家族病史和基因检测等与遗传学相关的操作。先前的研究表明，IRD患者的遗传咨询需求未得到充分满足，但缺乏文献展示美国眼科医生和验光师目前的遗传学操作情况。本研究的目的是评估目前为IRD患者提供的与遗传学相关的操作。
分析纳入了51名调查参与者的数据。该调查评估了他们目前对IRD患者进行风险咨询的操作、他们在眼部遗传学方面的信心水平，以及他们未来可能利用的资源。描述性统计用于总结定量数据，而开放式回答的数据则使用扎根理论生成的主题分析进行编码。
回答表明，目前与IRD患者有一些关于遗传学的讨论。然而，由于时间限制以及对IRD遗传学和现有检测缺乏了解，这些讨论存在局限性。该研究还表明，目前转介至遗传咨询的情况极少，不过对与遗传咨询师合作有兴趣。此外，需要持续开展关于IRD相关遗传学的教育。
未来有必要进行更大规模的研究，以进一步深入了解这些与遗传学相关的操作，以及该领域何处需要遗传咨询师。
