Ophthalmic genetics · 2020
Inherited retinal degeneration current genetics practices - a needs assessment.
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Strait Sydney, Loman Rebecca, Erickson Lindsay, DeBenedictis Meghan
Аннотация
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.
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.