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本文引用的文献

1
Low adoption of pharmacogenetic testing: an exploration and explanation of the reasons in Australia.药物遗传学检测的低采用率:澳大利亚原因的探索与解释
Per Med. 2007 May;4(2):191-199. doi: 10.2217/17410541.4.2.191.
2
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.全基因组测序对健康成年患者的初级保健和结局的影响:一项先导随机试验。
Ann Intern Med. 2017 Jun 27;167(3):159-169. doi: 10.7326/M17-0188. Print 2017 Aug 1.
3
The current state of implementation science in genomic medicine: opportunities for improvement.基因组医学中实施科学的现状:改进的机遇
Genet Med. 2017 Aug;19(8):858-863. doi: 10.1038/gim.2016.210. Epub 2017 Jan 12.
4
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.对全外显子组测序作为疑似单基因疾病婴儿的一线分子检测的前瞻性评估。
Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.
5
Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.改善临床基因检测决策:有效知识转化干预措施概述
PLoS One. 2016 Mar 3;11(3):e0150123. doi: 10.1371/journal.pone.0150123. eCollection 2016.
6
The IGNITE network: a model for genomic medicine implementation and research.IGNITE网络:基因组医学实施与研究的一个模型。
BMC Med Genomics. 2016 Jan 5;9:1. doi: 10.1186/s12920-015-0162-5.
7
Physicians' opinions following pharmacogenetic testing for psychotropic medication.精神药物治疗的药物遗传学检测后医生的观点。
Psychiatry Res. 2015 Oct 30;229(3):913-8. doi: 10.1016/j.psychres.2015.07.032. Epub 2015 Aug 7.
8
Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG).执业范围:美国医学遗传学与基因组学学会(ACMG)声明。
Genet Med. 2015 Sep;17(9):e3. doi: 10.1038/gim.2015.94. Epub 2015 Jul 23.
9
Global implementation of genomic medicine: We are not alone.全球实施基因组医学:我们并不孤单。
Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194.
10
Current and best practices of genetic testing for maturity onset diabetes of the young: views of professional experts.青少年成年起病型糖尿病基因检测的当前最佳实践:专业专家观点
Public Health Genomics. 2015;18(1):52-9. doi: 10.1159/000367963. Epub 2014 Oct 21.

基于理论的临床医生基因检测实践系统评价

A theory-informed systematic review of clinicians' genetic testing practices.

机构信息

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia.

出版信息

Eur J Hum Genet. 2018 Oct;26(10):1401-1416. doi: 10.1038/s41431-018-0190-7. Epub 2018 Jun 11.

DOI:10.1038/s41431-018-0190-7
PMID:29891880
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6138746/
Abstract

This systematic literature review investigates factors impacting on clinicians' decisions to offer genetic tests in their practice, and maps them to a theoretical behaviour change framework. Better understanding of these factors will inform the design of effective interventions to integrate genomics tests into clinical care. We conducted a narrative synthesis of empirical research of medical specialists' perspectives on and experiences of offering genetic tests to their patients. This review was based upon the PRISMA statement and guidelines for reviewing qualitative research. Four electronic data sources were searched-MEDLINE, EMBASE, CINAHL, PubMed. Studies were independently assessed by two authors. Content analysis was applied to map the findings of included studies to a framework validated for behaviour and implementation research, the Theoretical Domains Framework (TDF). The TDF describes 14 factors known to influence behaviour and has been applied in diverse clinical settings to understand and/or modify health professional behaviour. Thirty-four studies published in 39 articles met inclusion and quality criteria. Most studies were published after 2011 (54%), Northern American (82%), quantitative in design (68%) and addressed familial cancer genetic tests (53%). Of the 14 TDF factors, 13 were identified. The three most common factors were: Environmental Context and Resources (n = 33), Beliefs about Consequences (n = 26), and Knowledge (n = 23). To support the adoption of genomic tests beyond specialist services, nuanced interventions targeting considerations beyond clinician education are needed. For instance, interventions addressing organisational constraints which may restrict clinicians' ability to offer genomic tests are required alongside those targeting factors intrinsic to the clinician.

摘要

本系统文献回顾调查了影响临床医生在实践中提供基因检测的因素,并将其映射到理论行为改变框架中。更好地了解这些因素将为设计有效的干预措施提供信息,以将基因组学检测整合到临床护理中。我们对医学专家提供基因检测给患者的观点和经验的实证研究进行了叙述性综合分析。本综述基于 PRISMA 声明和审查定性研究的指南。我们在四个电子数据库中搜索了 MEDLINE、EMBASE、CINAHL 和 PubMed。由两名作者独立评估研究。内容分析用于将纳入研究的结果映射到理论领域框架(TDF),该框架已验证用于行为和实施研究。TDF 描述了已知影响行为的 14 个因素,并已应用于不同的临床环境中,以了解和/或改变卫生专业人员的行为。符合纳入和质量标准的 34 项研究发表在 39 篇文章中。大多数研究发表于 2011 年之后(54%)、北美(82%)、设计为定量(68%)并解决家族性癌症基因检测(53%)。在 14 个 TDF 因素中,确定了 13 个。最常见的三个因素是:环境背景和资源(n=33)、信念关于后果(n=26)和知识(n=23)。为了支持在专家服务之外采用基因组检测,需要针对超出临床医生教育的考虑因素的精细干预措施。例如,需要针对可能限制临床医生提供基因组检测能力的组织限制因素的干预措施,以及针对临床医生内在因素的干预措施。