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全科医生对基因组学、实践和教育的看法:一项定性访谈研究。

General practitioners' views on genomics, practice and education: A qualitative interview study.

机构信息

BPharm, Program Leader (GP Education), NSW Health Centre for Genetics Education, St Leonards, NSW.

MGenCouns, Research Assistant, Australian Genomics Health Alliance, Parkville, Vic; Research Assistant, Genomics in Society, Murdoch Children@s Research Institute, Parkville, Vic; Lecturer, Department of Paediatrics, University of Melbourne, Melbourne, Vic.

出版信息

Aust J Gen Pract. 2021 Oct;50(10):747-752. doi: 10.31128/AJGP-05-20-5448.

Abstract

BACKGROUND AND OBJECTIVES

Genomics is moving rapidly into mainstream medicine through clinical genomic testing and consumer-initiated online DNA testing. The aim of this study was to identify Australian general practitioners' (GPs') views on genomics, impact on practice and educational needs to inform continuing education.

METHOD

Semi-structured interviews were conducted, with constant comparative inductive analysis and governance from a national taskforce.

RESULTS

Twenty-eight GPs (43% female) were interviewed; 71% worked in a metropolitan workplace. Most initially reported little experience with genetic/genomic tests but, when prompted, recognised encountering genomics, mainly non-invasive prenatal and single-gene tests. Many GPs referred patients for cancer screening to genetic services or specialists. GPs reported needing continuing education and resources, with preferences underpinned by relevance to practice.

DISCUSSION

GPs are integrating genomic testing into care, mainly through prenatal screening, and anticipate further impact. They want diverse and context-dependent education but are unaware of some available resources, such as The Royal Australian College of General Practitioners' Genomics in general practice guideline.

摘要

背景与目的

基因组学正通过临床基因组测试和消费者发起的在线 DNA 测试迅速进入主流医学领域。本研究旨在确定澳大利亚全科医生(GP)对基因组学的看法、对实践的影响以及教育需求,以为继续教育提供信息。

方法

采用半结构式访谈,采用国家工作组的持续比较归纳分析和治理。

结果

对 28 名全科医生(43%为女性)进行了访谈;71%在大都市工作场所工作。大多数人最初报告说很少有遗传/基因组测试的经验,但在被提示后,他们认识到遇到了基因组学,主要是无创产前和单基因测试。许多全科医生将癌症筛查患者转介到遗传服务或专家处。全科医生报告说需要继续教育和资源,他们的偏好是基于对实践的相关性。

讨论

全科医生正在将基因组测试纳入护理,主要是通过产前筛查,并预计会有进一步的影响。他们希望接受多样化和基于背景的教育,但对一些可用资源(如澳大利亚皇家全科医生学院的《一般实践中的基因组学》指南)并不了解。

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