Suppr超能文献

支持向家庭成员披露遗传信息:癌症遗传学中的专业实践与时间安排

Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics.

作者信息

Derbez Benjamin, de Pauw Antoine, Stoppa-Lyonnet Dominique, de Montgolfier Sandrine

机构信息

Institut de Recherche Interdisciplinaire sur les enjeux Sociaux (IRIS), UMR 8156 CNRS - 997 Inserm - EHESS - UP 13, 190 avenue de France, Paris Cedex 13, 75244, France.

Service de Génétique Oncologique, Institut Curie, Paris, France.

出版信息

Fam Cancer. 2017 Jul;16(3):447-457. doi: 10.1007/s10689-017-9970-4.

Abstract

Disclosure of genetic information within families is one of the longstanding questions under scrutiny in the field of genetics. Most of the probands entrusted with family disclosure succeed in this task, but there are still many problematic cases where it proves difficult. How can professionals help probands disclose this information? What levers can they activate to foster the diffusion of genetic information within families? In the context of a new legal framework concerning this question in France, this paper offers a comprehensive view of the process of genetic counselling in a cancer genetics department. Based on an ethnographic study, it focuses on the interactions between professionals and probands during each step of the testing procedures in order to identify key times when the issue can be addressed. The results show that the question of family disclosure needs to be addressed before, during and after the test. Greater awareness of this continuum among professionals could help them foster family disclosure by supporting the probands at each stage of the testing procedure.

摘要

在家庭内部披露遗传信息是遗传学领域长期以来受到审视的问题之一。大多数被托付进行家庭信息披露的先证者成功完成了这项任务,但仍有许多存在问题的案例,在这些案例中,信息披露证明是困难的。专业人员如何帮助先证者披露这些信息?他们可以激活哪些杠杆来促进遗传信息在家庭内部的传播?在法国关于这个问题的新法律框架背景下,本文全面审视了癌症遗传学部门的遗传咨询过程。基于一项人种志研究,它聚焦于检测程序各步骤中专业人员与先证者之间的互动,以便确定可以解决该问题的关键时机。结果表明,家庭信息披露问题需要在检测前、检测期间和检测后加以解决。专业人员对这一连续过程有更高的认识,有助于他们在检测程序的每个阶段支持先证者,从而促进家庭信息披露。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验