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基因组医学时代的遗传咨询。

Genetic counselling in the era of genomic medicine.

机构信息

Florence Nightingale Faculty of Nursing, Midwifery and Palliative Care, King's College London, 57 Waterloo Road, London.

Genetic Counselling, Genomics England, Queen Mary University of London, Dawson Hall, London.

出版信息

Br Med Bull. 2018 Jun 1;126(1):27-36. doi: 10.1093/bmb/ldy008.

Abstract

BACKGROUND

Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and families to make autonomous decisions and effectively use new genetic information. The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine.

SOURCES OF DATA

Original papers, reviews, guidelines, policy papers and web-resources.

AREAS OF AGREEMENT

An international consensus on the definition of genetic counselling. Genetic counselling is necessary for implementation of genomic medicine.

AREAS OF CONTROVERSY

Models of genetic counselling.

GROWING POINTS

Genomic medicine is a growing and strategic priority for many health care systems. Genetic counselling is part of this.

AREAS TIMELY FOR DEVELOPING RESEARCH

An evidence base is necessary, incorporating implementation and outcome research, to enable health care systems, practitioners, patients and families to maximize the utility (medically and psychologically) of the new genomic possibilities.

摘要

背景

基因组技术现在可以为患者提供具有成本效益的、针对性的诊断和治疗。遗传咨询是一个赋能患者和家庭做出自主决策并有效利用新遗传信息的沟通过程。遗传咨询的技能和遗传咨询师的专业知识是基因组医学有效实施的组成部分。

资料来源

原始论文、综述、指南、政策文件和网络资源。

意见一致的领域

遗传咨询的定义达成国际共识。遗传咨询是实施基因组医学的必要条件。

有争议的领域

遗传咨询模式。

发展研究的增长点

基因组医学是许多医疗保健系统的一个不断发展和战略重点。遗传咨询是其中的一部分。

需要开展研究的及时领域

需要建立一个证据基础,包括实施和结果研究,以使医疗保健系统、从业者、患者和家庭能够最大限度地利用新的基因组可能性的医学和心理效用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3af/5998955/96f0e5c81246/ldy008f01.jpg

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