Powell Sabrina N, Byfield Grace, Bennetone Ashley, Frantz Annabelle M, Harrison Langston K, James-Crook Erin R, Osborne Heather, Owens Thomas H, Shaw Jonathan L, O'Daniel Julianne, Milko Laura V
Program for Precision Medicine in Health Care, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Front Genet. 2022 Mar 25;13:867030. doi: 10.3389/fgene.2022.867030. eCollection 2022.
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.
基因组测序和基因组医学的最新进展正在重塑临床护理格局。作为一种筛查方式，基因测序有可能极大地扩展新生儿筛查（NBS）的临床应用，尽管在伦理、法律和社会影响（ELSI）以及技术和证据挑战方面仍存在重大障碍。利益相关者参与的实施研究准备应对其中许多障碍，而父母是这一过程中的关键利益相关者。我们描述了一个社区研究委员会（CRB）的组建和活动，该委员会由背景各异的父母组成，他们参与了与北卡罗来纳大学的基因组和公共卫生研究人员正在进行的研究合作。CRB的使命是深入了解父母对将基因组测序添加到NBS前景的看法，并共同制定策略以确保其公平采用。我们描述了这些贡献如何能够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。
