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遗传咨询师的融入改善了遗传性眼病的诊断。

Genetic Counselor Integration Improves Genetic Eye Disease Diagnostics.

作者信息

Lindquist Mark, Cech Jennifer, Peterson Amanda, Huey Jennifer, Mustafi Debarshi

机构信息

Department of Ophthalmology, University of Washington, Seattle, Washington; Roger and Angie Karalis Johnson Retina Center, Seattle, Washington.

Division of Genetics, Seattle Children's Hospital, Seattle, Washington.

出版信息

Ophthalmol Retina. 2025 Sep;9(9):918-921. doi: 10.1016/j.oret.2025.03.016. Epub 2025 Mar 23.

DOI:10.1016/j.oret.2025.03.016
PMID:40132685
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12353845/
Abstract

This study establishes a framework for genetic counselor integration into retina clinics without requiring ophthalmology-specific training, enabling more efficient and accurate diagnostics for inherited retinal disease patients.

摘要

本研究建立了一个将遗传咨询师纳入视网膜诊所的框架，无需眼科专业培训，从而能够为遗传性视网膜疾病患者提供更高效、准确的诊断。

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本文引用的文献

1
Streamlined Ophthalmologist-Led Pathway to Diagnosis and Accessibility of Genetics Testing for Patients with Inherited Retinal Dystrophies in Canada.加拿大针对遗传性视网膜营养不良患者的简化眼科医生主导的诊断及基因检测获取途径。
Ophthalmol Retina. 2025 Feb;9(2):180-186. doi: 10.1016/j.oret.2024.08.007. Epub 2024 Aug 16.
2
Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey.遗传性视网膜退行性病变患者的基因检测体验：全球调查结果。
Ophthalmic Res. 2024;67(1):201-210. doi: 10.1159/000537818. Epub 2024 Feb 17.
3
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment.遗传性视网膜疾病临床中的遗传咨询师队伍：描述性评估。
Ophthalmic Genet. 2023 Dec;44(6):553-558. doi: 10.1080/13816810.2023.2239910. Epub 2023 Aug 2.
4
Genetic testing and diagnosis of inherited retinal diseases.遗传性视网膜疾病的基因检测和诊断。
Orphanet J Rare Dis. 2021 Dec 14;16(1):514. doi: 10.1186/s13023-021-02145-0.
5
Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease.对遗传性视网膜疾病成年患者的遗传学、基因检测以及信息需求和偏好的当前认识。
Eur J Hum Genet. 2014 Sep;22(9):1058-62. doi: 10.1038/ejhg.2013.296. Epub 2014 Jan 8.
6
Genetic counseling and genetic testing in ophthalmology.眼科领域的遗传咨询与基因检测
Curr Opin Ophthalmol. 2009 Sep;20(5):343-50. doi: 10.1097/ICU.0b013e32832f7f0d.
7
Molecular diagnosis and genetic counseling in ophthalmology.
Arch Ophthalmol. 2007 Feb;125(2):196-203. doi: 10.1001/archopht.125.2.196.