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让社区利益相关者参与临床基因组测序最佳实践研究。

Engaging community stakeholders in research on best practices for clinical genomic sequencing.

机构信息

Department of Health Behavior, UNC Chapel Hill, Chapel Hill, NC, USA.

Cecil G. Sheps Center for Health Services Research, UNC Chapel Hill, Chapel Hill NC, USA.

出版信息

Per Med. 2020 Nov;17(6):435-444. doi: 10.2217/pme-2020-0074. Epub 2020 Oct 7.

DOI:10.2217/pme-2020-0074
PMID:33026293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7938705/
Abstract

Maximizing the utility and equity of genomic sequencing integration in clinical care requires engaging patients, their families, and communities. The NCGENES 2 study explores the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. A Community Consult Team (CCT) of diverse parents and advocates for children with genetic and/or neurodevelopmental conditions was formed. Early and consistent engagement with the CCT resulted in adaptations to study protocol and materials relevant to this unique study population. This study demonstrates valuable contributions of community stakeholders to inform the implementation of translational genomics research for diverse participants.

摘要

要使基因组测序在临床护理中的实用性和公平性最大化，需要让患者、他们的家人和社区参与进来。NCGENES 2 研究探讨了在诊断性基因组测序研究背景下，临床医生和照顾有未确诊疾病的儿童的护理人员之间的互动对儿童的影响。成立了一个由具有不同背景的父母和倡导儿童遗传和/或神经发育疾病的人组成的社区咨询团队 (CCT)。早期并持续与 CCT 接触，导致了对研究方案和与该独特研究人群相关的材料的调整。这项研究证明了社区利益相关者对为不同参与者实施转化基因组学研究提供了有价值的信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbfb/7938705/a047fd2cd8eb/nihms-1675217-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbfb/7938705/a047fd2cd8eb/nihms-1675217-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbfb/7938705/a047fd2cd8eb/nihms-1675217-f0001.jpg

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本文引用的文献

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Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.
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Integrating Genomics into Healthcare: A Global Responsibility.将基因组学融入医疗保健：全球的责任。
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Practical Guidance for Involving Stakeholders in Health Research.利益相关者参与健康研究实用指南
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Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.儿童期基于年龄的基因组筛查：公共卫生基因组学实施中的伦理与实际考量
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