Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey.

IF 4 Q1 GENETICS & HEREDITY
Yekaterina Unnikumaran, Mei Lietsch, Amy Brower
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引用次数: 0

Abstract

From 2008 to 2024, the Newborn Screening Translational Research Network (NBSTRN), part of the National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Program, served as a robust infrastructure to facilitate groundbreaking research in newborn screening (NBS), public health, rare disease, and genomics. Over its sixteen years, NBSTRN developed into a significant international network, supporting innovative research on novel technologies to screen, diagnose, treat, manage, and understand the natural history of more than 280 rare diseases. The NBSTRN tools and resources were used by a variety of stakeholders including researchers, clinicians, state NBS programs, parents, families, and policy makers. Resources and expertise for the newborn screening community in ethical, legal, and social issues (ELSI) has been an important area of focus for the NBSTRN and this includes efforts across the NBS system from pilot studies of candidate conditions to public health implementation of screening for new conditions, and the longitudinal follow-up of NBS-identified individuals to inform health outcomes and disease understanding. In 2023, the NBSTRN conducted a survey to explore ELSI issues in NBS research, specifically those encountered by the NBS community. Since NBS research involves collaboration among researchers, state NBS programs, clinicians, and families, the survey was broadly designed and disseminated to engage all key stakeholders. With responses from 88 members of the NBS community, including researchers and state NBS programs, the survey found that individuals rely most on institutional and collegial resources when they encounter ELSI questions. Most survey responses ranked privacy as extremely or very important in NBS research and identified the need for policies that address informed consent in NBS research. The survey results highlight the need for improved collaborative resources and educational programs focused on ELSI for the NBS community. The survey results inform future efforts in ELSI and NBS research in the United States (U.S.) and the rest of the world, including the development of policies and expanded ELSI initiatives and tools that address the needs of all NBS stakeholders.

新生儿筛查研究的伦理前沿:NBSTRN ELSI 研究人员需求调查的启示。
从 2008 年到 2024 年,新生儿筛查转化研究网络(NBSTRN)作为美国国家儿童健康与人类发展研究所(NICHD)亨特-凯利新生儿筛查项目的一部分,成为促进新生儿筛查(NBS)、公共卫生、罕见病和基因组学领域突破性研究的强大基础设施。十六年来,NBSTRN 已发展成为一个重要的国际网络,支持对新型技术的创新研究,以筛查、诊断、治疗、管理和了解 280 多种罕见病的自然病史。研究人员、临床医生、各州新生儿筛查项目、家长、家庭和政策制定者等各类利益相关者都在使用 NBSTRN 工具和资源。为新生儿筛查社区提供伦理、法律和社会问题(ELSI)方面的资源和专业知识一直是 NBSTRN 重点关注的重要领域,这包括整个 NBS 系统从候选病症的试点研究到新病症筛查的公共卫生实施,以及对 NBS 确定的个体进行纵向随访,以便为健康结果和疾病认识提供信息。2023 年,NBSTRN 开展了一项调查,以探讨 NBS 研究中的 ELSI 问题,特别是 NBS 社区遇到的问题。由于 NBS 研究涉及研究人员、州 NBS 项目、临床医生和家庭之间的合作,因此调查的设计和传播范围很广,以吸引所有主要利益相关者的参与。调查得到了包括研究人员和各州 NBS 项目在内的 88 名 NBS 社区成员的回复,调查发现,当遇到 ELSI 问题时,个人最依赖的是机构和同事资源。大多数调查反馈都认为隐私在国家生物统计研究中极为重要或非常重要,并认为需要制定政策来解决国家生物统计研究中的知情同意问题。调查结果凸显了改善协作资源和教育计划的必要性,这些资源和计划的重点是针对国家统计局群体的 ELSI 问题。调查结果为美国和世界其他国家今后在 ELSI 和 NBS 研究方面的工作提供了参考,包括制定政策和扩大 ELSI 计划与工具,以满足所有 NBS 利益相关者的需求。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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