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囊性纤维化的遗传咨询:面临新挑战的基本模式。

Genetic counseling for cystic fibrosis: A basic model with new challenges.

作者信息

Bieth E, Nectoux J, Girardet A, Gruchy N, Mittre H, Laurans M, Guenet D, Brouard J, Gerard M

机构信息

Génétique Médicale, CHU Toulouse, France.

Service de génétique et biologie moléculaires, CHU Paris Centre - Hôpital Cochin, Site Cochin, Paris, France.

出版信息

Arch Pediatr. 2020 Feb;27 Suppl 1:eS30-eS34. doi: 10.1016/S0929-693X(20)30048-8.


DOI:10.1016/S0929-693X(20)30048-8
PMID:32172934
Abstract

While the goals of genetic counseling for cystic fibrosis - delivering relevant information on the risk of recurrence and nondirectional support of couples at risk in their reproductive choices - have not changed fundamentally, the practice has evolved considerably in the last decade, growing more complex to face new challenges but also proving more effective. Many factors have contributed to this evolution: technical progress in the exploration of the genome (new generation sequencing) and in reproductive medicine, but also societal developments promoting access to genetic information and the professionalization of genetic counselors in France. The prospect of expanded pre-conception screening of at-risk couples makes genetic counselors major actors not only in medical care centers, but also in modern society by contributing to genetic education among citizens. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

摘要

虽然囊性纤维化遗传咨询的目标——提供关于复发风险的相关信息以及对有风险的夫妇在生育选择上给予无方向性支持——从根本上来说没有改变,但在过去十年中,这种做法已经有了很大的发展,变得更加复杂以应对新的挑战,但也证明更有效。许多因素促成了这一发展:基因组探索(新一代测序)和生殖医学方面的技术进步,以及法国促进获取遗传信息和遗传咨询师专业化的社会发展。对有风险夫妇进行扩大孕前筛查的前景,使遗传咨询师不仅成为医疗中心的主要角色,而且通过促进公民的遗传教育,成为现代社会的主要角色。© 2020年法国儿科学会。由爱思唯尔马松出版社出版。保留所有权利。

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[1]
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[2]
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[3]
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[4]
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[5]
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[6]
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[7]
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引用本文的文献

[1]
Using a theory informed approach to design, execute, and evaluate implementation strategies to support offering reproductive genetic carrier screening in Australia.

BMC Health Serv Res. 2023-11-20

[2]
The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening.

Eur J Hum Genet. 2023-4

[3]
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes (Basel). 2020-6-4

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