眼科领域的遗传咨询与基因检测
Genetic counseling and genetic testing in ophthalmology.
作者信息
Sutherland Joanne E, Day Megan A
机构信息
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
出版信息
Curr Opin Ophthalmol. 2009 Sep;20(5):343-50. doi: 10.1097/ICU.0b013e32832f7f0d.
PMID:19620864
Abstract
PURPOSE OF REVIEW
To introduce the issues specific to the genetic counseling profession for genetic eye diseases.
RECENT FINDINGS
To discuss current issues in ocular genetic counseling including the use of a focused ophthalmology pedigree, informed consent in the blind population, genetic testing trends and psychosocial issues.
SUMMARY
Introduce the time-consuming issues to be addressed in genetic counseling for genetic eye disease patients.
摘要
综述目的
介绍针对遗传性眼病的遗传咨询专业所特有的问题。
最新发现
讨论眼部遗传咨询中的当前问题，包括使用重点突出的眼科系谱、盲人患者的知情同意、基因检测趋势和心理社会问题。
总结
介绍在为遗传性眼病患者进行遗传咨询时需要解决的耗时问题。
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