Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.
Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.
复制标题
DOI：
10.3389/fgene.2022.867030
复制
发表时间：
2022
影响因子：
3.7
通讯作者：
Milko LV
中科院分区：
文献类型：
--
作者：
Powell SN;Byfield G;Bennetone A;Frantz AM;Harrison LK;James-Crook ER;Osborne H;Owens TH;Shaw JL;O'Daniel J;Milko LV
基因组测序和基因组医学的最新进展正在重塑临床护理的格局。作为一种筛查方式，基因测序有可能极大地扩大新生儿筛查（NBS）的临床实用性，尽管在伦理、法律的和社会影响（ELSI）以及技术和证据挑战方面仍然存在重大障碍。利益相关者知情的实施研究准备与这些障碍中的许多斗争，父母是这个过程中的关键利益相关者。我们描述的形成和活动的社区研究委员会（CRB）组成的父母与不同的背景组装参与正在进行的研究伙伴关系与基因组和公共卫生研究人员在北卡罗来纳州的大学。CRB的使命是深入了解父母对将基因组测序加入NBS的前景的看法，并合作制定战略，以确保其公平利用。我们描述了这些贡献如何提高研究和招募方法的可及性，并促进不同社区内的信任和包容性，以最大限度地提高健康儿童群体基因组筛查的社会效益。
Recent advances in genomic sequencing and genomic medicine are reshaping the landscape of clinical care. As a screening modality, genetic sequencing has the potential to dramatically expand the clinical utility of newborn screening (NBS), though significant barriers remain regarding ethical, legal, and social implications (ELSI) and technical and evidentiary challenges. Stakeholder-informed implementation research is poised to grapple with many of these barriers, and parents are crucial stakeholders in this process. We describe the formation and activities of a Community Research Board (CRB) composed of parents with diverse backgrounds assembled to participate in an ongoing research partnership with genomic and public health researchers at the University of North Carolina. The mission of the CRB is to provide insight into parental perspectives regarding the prospect of adding genomic sequencing to NBS and collaboratively develop strategies to ensure its equitable uptake. We describe how these contributions can improve the accessibility of research and recruitment methods and promote trust and inclusivity within diverse communities to maximize the societal benefit of population genomic screening in healthy children.