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本文引用的文献

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A systematic approach to the reporting of medically relevant findings from whole genome sequencing.一种用于报告全基因组测序医学相关发现的系统方法。
BMC Med Genet. 2014 Dec 14;15:134. doi: 10.1186/s12881-014-0134-1.
2
'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project.“终有一天这将成为常态”:医生对MedSeq项目中基因组测序在患者护理中的效用的看法。
Per Med. 2015;12(1):23-32. doi: 10.2217/pme.14.68.
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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.根据疾病严重程度指导的外显子组和基因组测序在神经发育障碍诊断中的有效性。
Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.
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Molecular findings among patients referred for clinical whole-exome sequencing.接受临床全外显子组测序的患者的分子研究结果。
JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.
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Primary-care providers' perceived barriers to integration of genetics services: a systematic review of the literature.初级保健提供者对基因服务整合的认知障碍:文献系统综述
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Living laboratory: whole-genome sequencing as a learning healthcare enterprise.活体实验室:作为学习型医疗企业的全基因组测序
Clin Genet. 2015 Apr;87(4):311-8. doi: 10.1111/cge.12461. Epub 2014 Sep 6.
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Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics.基因组医学中医师能力发展框架:基因组学医师教育跨学会协调委员会能力工作组报告
Genet Med. 2014 Nov;16(11):804-9. doi: 10.1038/gim.2014.35. Epub 2014 Apr 24.
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Technology: The $1,000 genome.技术:千美元基因组。
Nature. 2014 Mar 20;507(7492):294-5. doi: 10.1038/507294a.
9
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.MedSeq 项目:将全基因组测序整合到临床医学中的一项随机试验。
Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85.
10
Professional medical education and genomics.专业医学教育与基因组学
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医生们为全基因组测序做好准备了吗?一项定性分析。

Are physicians prepared for whole genome sequencing? a qualitative analysis.

作者信息

Christensen K D, Vassy J L, Jamal L, Lehmann L S, Slashinski M J, Perry D L, Robinson J O, Blumenthal-Barby J, Feuerman L Z, Murray M F, Green R C, McGuire A L

机构信息

Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Section of General Internal Medicine, VA Boston Healthcare System, Boston, MA, USA.

出版信息

Clin Genet. 2016 Feb;89(2):228-34. doi: 10.1111/cge.12626. Epub 2015 Jul 7.

DOI:10.1111/cge.12626
PMID:26080898
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4683111/
Abstract

Although the integration of whole genome sequencing (WGS) into standard medical practice is rapidly becoming feasible, physicians may be unprepared to use it. Primary care physicians (PCPs) and cardiologists enrolled in a randomized clinical trial of WGS received genomics education before completing semi-structured interviews. Themes about preparedness were identified in transcripts through team-based consensus-coding. Data from 11 PCPs and 9 cardiologists suggested that physicians enrolled in the trial primarily to prepare themselves for widespread use of WGS in the future. PCPs were concerned about their general genomic knowledge, while cardiologists were concerned about how to interpret specific types of results and secondary findings. Both cohorts anticipated preparing extensively before disclosing results to patients by using educational resources with which they were already familiar, and both cohorts anticipated making referrals to genetics specialists as needed. A lack of laboratory guidance, time pressures, and a lack of standards contributed to feeling unprepared. Physicians had specialty-specific concerns about their preparedness to use WGS. Findings identify specific policy changes that could help physicians feel more prepared, and highlight how providers of all types will need to become familiar with interpreting WGS results.

摘要

尽管将全基因组测序(WGS)纳入标准医疗实践正迅速变得可行,但医生可能并未准备好使用它。参与WGS随机临床试验的初级保健医生(PCP)和心脏病专家在完成半结构化访谈之前接受了基因组学教育。通过基于团队的共识编码在转录本中确定了关于准备情况的主题。来自11名初级保健医生和9名心脏病专家的数据表明,参与试验的医生主要是为自己未来广泛使用WGS做准备。初级保健医生担心自己的一般基因组知识,而心脏病专家则担心如何解读特定类型的结果和次要发现。两个队列都预计在通过使用他们已经熟悉的教育资源向患者披露结果之前进行大量准备,并且两个队列都预计根据需要转诊给遗传学专家。缺乏实验室指导、时间压力和缺乏标准导致感觉没有准备好。医生对自己使用WGS的准备情况有特定专业方面的担忧。研究结果确定了有助于医生感觉更有准备的具体政策变化,并强调了各类医疗服务提供者都需要熟悉解读WGS结果的方式。