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研究者特征与对基因组研究中偶然发现结果反馈看法的关联

Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research.

作者信息

Wynn Julia, Martinez Josue, Duong Jimmy, Zhang Yuan, Phelan Jo, Fyer Abby, Klitzman Robert, Appelbaum Paul S, Chung Wendy K

机构信息

Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Ave., Russ Berrie Pavilion, 6th Fl, Rm 620, New York, NY, 10032, USA.

Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA.

出版信息

J Genet Couns. 2015 Oct;24(5):833-41. doi: 10.1007/s10897-014-9817-1. Epub 2015 Jan 17.


DOI:10.1007/s10897-014-9817-1
PMID:25592144
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4506262/
Abstract

Whole exome/ genome sequencing (WES/WGS) is now commonly used in research and is increasingly used in clinical care to identify the genetic basis of rare and unknown diseases. The management of incidental findings (IFs) generated through these analyses is debated within the research community. To examine how views regarding genomic research IFs are associated with researcher characteristics and experiences, we surveyed genetic professionals and assessed the effect of professional background and experience on their opinions. Researchers who did not have clinical training, provide clinical care to research participants, or have prior experience returning research results were in general more inclined to offer return of IFs than their colleagues with these characteristics. Understanding this will be important to fully appreciate the impact that policies on return of genetic IFs could have on participants, researchers, and genomic research.

摘要

全外显子组/基因组测序(WES/WGS)目前在研究中被广泛使用,并且在临床医疗中越来越多地用于识别罕见和不明疾病的遗传基础。研究界对通过这些分析产生的偶发发现(IFs)的管理存在争议。为了研究关于基因组研究偶发发现的观点如何与研究人员的特征和经历相关联,我们对遗传学专业人员进行了调查,并评估了专业背景和经历对他们观点的影响。没有临床培训、未为研究参与者提供临床护理或没有返回研究结果经验的研究人员,总体上比具有这些特征的同事更倾向于提供偶发发现的返回。了解这一点对于充分认识遗传偶发发现返回政策可能对参与者、研究人员和基因组研究产生的影响至关重要。

相似文献

[1]
Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research.

J Genet Couns. 2015-10

[2]
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.

Eur J Hum Genet. 2016-1

[3]
Views of primary care providers regarding the return of genome sequencing incidental findings.

Clin Genet. 2014-11

[4]
To disclose, or not to disclose? Perspectives of clinical genomics professionals toward returning incidental findings from genomic research.

BMC Med Ethics. 2021-7-27

[5]
Views of nonmedical, health system professionals regarding the return of whole genome sequencing incidental findings.

WMJ. 2014-10

[6]
Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling.

J Genet Couns. 2015-8

[7]
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[8]
Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.

Am J Hum Genet. 2014-6-26

[9]
Researchers' views on return of incidental genomic research results: qualitative and quantitative findings.

Genet Med. 2013-6-27

[10]
Processes and factors involved in decisions regarding return of incidental genomic findings in research.

Genet Med. 2013-9-26

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[1]
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BMC Med Ethics. 2025-2-7

[2]
dbBIP: a comprehensive bipolar disorder database for genetic research.

Database (Oxford). 2022-7-2

[3]
Return of individual research results from genomic research: A systematic review of stakeholder perspectives.

PLoS One. 2021

[4]
Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.

J Genet Couns. 2021-6

[5]
Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.

Per Med. 2019-7-17

[6]
Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.

BMC Med Ethics. 2018-9-29

[7]
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

Am J Hum Genet. 2018-8-16

[8]
Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.

J Genet Couns. 2018-6

[9]
Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research.

J Genet Couns. 2017-8

[10]
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.

Genet Med. 2017-3

本文引用的文献

[1]
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.

Am J Hum Genet. 2014-5-8

[2]
Informed consent for return of incidental findings in genomic research.

Genet Med. 2013-10-24

[3]
Mandatory extended searches in all genome sequencing: "incidental findings," patient autonomy, and shared decision making.

JAMA. 2013-7-24

[4]
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.

JAMA. 2013-7-24

[5]
Incidental findings in clinical genomics: a clarification.

Genet Med. 2013-8

[6]
Researchers' views on return of incidental genomic research results: qualitative and quantitative findings.

Genet Med. 2013-6-27

[7]
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Genet Med. 2013-6-20

[8]
Views of genetics health professionals on the return of genomic results.

J Genet Couns. 2014-8

[9]
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing.

Am J Med Genet A. 2013-2-7

[10]
Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study.

Clin Genet. 2012-12-7

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