Department of Bioethics, Center for Genetic Research Ethics and Law, Case Western Reserve University, Cleveland, Ohio, USA.
Parent Project Muscular Dystrophy, Hackensack, New Jersey, USA.
Genet Med. 2019 Mar;21(3):525-533. doi: 10.1038/s41436-018-0101-x. Epub 2018 Aug 13.
The evidence review processes for adding new conditions to state newborn screening (NBS) panels rely on data from pilot studies aimed at assessing the potential benefits and harms of screening. However, the consideration of ethical, legal, and social implications (ELSI) of screening within this research has been limited. This paper outlines important ELSI issues related to newborn screening policy and practices as a resource to help researchers integrate ELSI into NBS pilot studies.
Members of the Bioethics and Legal Workgroup for the Newborn Screening Translational Research Network facilitated a series of professional and public discussions aimed at engaging NBS stakeholders to identify important existing and emerging ELSI challenges accompanying NBS.
Through these engagement activities, we identified a set of key ELSI questions related to (1) the types of results parents may receive through newborn screening and (2) the initiation and implementation of NBS for a condition within the NBS system.
Integrating ELSI questions into pilot studies will help NBS programs to better understand the potential impact of screening for a new condition on newborns and families, and make crucial policy decisions aimed at maximized benefits and mitigating the potential negative medical or social implications of screening.
将新条件添加到州新生儿筛查 (NBS) 计划中，其证据审查过程依赖于旨在评估筛查潜在益处和危害的试点研究数据。然而，在这项研究中，对筛查的伦理、法律和社会影响 (ELSI) 的考虑是有限的。本文概述了与新生儿筛查政策和实践相关的重要 ELSI 问题，作为帮助研究人员将 ELSI 纳入 NBS 试点研究的资源。
新生儿筛查转化研究网络的伦理和法律工作组的成员促进了一系列专业和公众讨论，旨在让 NBS 利益相关者参与，以确定伴随 NBS 的现有和新出现的 ELSI 挑战。
通过这些参与活动，我们确定了一系列与 (1) 父母可能通过新生儿筛查获得的结果类型和 (2) 在 NBS 系统中对某一条件启动和实施 NBS 相关的关键 ELSI 问题。
将 ELSI 问题纳入试点研究将帮助 NBS 计划更好地了解筛查新条件对新生儿和家庭的潜在影响，并做出旨在最大限度地提高效益和减轻筛查潜在负面医疗或社会影响的关键政策决策。
