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肾脏临床医生遗传检测和遗传咨询的原则。

Principles of genetic testing and genetic counseling for renal clinicians.

机构信息

Department of Medicine, Renal Division, Brigham and Women's Hospital, Boston, MA 02115, USA.

出版信息

Semin Nephrol. 2010 Jul;30(4):431-7. doi: 10.1016/j.semnephrol.2010.06.010.

DOI:10.1016/j.semnephrol.2010.06.010
PMID:20807616
Abstract

The advancement of genetic information and increased access to genetic testing options requires renal clinicians to expand their working knowledge of genetics and translate this information in a way that is meaningful to their patients. It is helpful to distinguish between the three types of genetic testing: clinical genetic testing, research genetic testing, and direct to consumer testing, and to communicate these differences to patients interested in these options. Although clinicians may not have the time to stage an entire genetic counseling session with each patient, the following scenarios offer tools and techniques from genetic counseling that can be used to facilitate the genetic testing process, foster client decision making, and to identify patients who may benefit from referral to a genetic counselor for additional support.

摘要

遗传信息的进步和更多的基因检测选项的获得,要求肾脏临床医生扩展他们的遗传知识,并以对患者有意义的方式翻译这些信息。区分三种类型的基因检测——临床基因检测、研究基因检测和直接面向消费者的检测,并将这些差异传达给对这些检测感兴趣的患者是有帮助的。尽管临床医生可能没有时间为每个患者进行完整的基因咨询,但以下场景提供了基因咨询中可以使用的工具和技术,以促进基因检测过程,促进客户决策,并确定可能受益于转介给遗传咨询师以获得额外支持的患者。

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