Ethical, legal, and social implications (ELSI) are trending topics in newborn screening research. These issues include the discussion of parental permission for NBS, treatment costs and availability, disparities caused by state-based differences in NBS, and the ethical implications of storing and using residual blood spots for supplementary research. Historically, ELSI issues have been considered on a limited basis. This is mainly due to the exclusion of ESLI issues within NBS research studies.
This paper was designed to help systematically outline major ELSI issues regarding NBS policy and practices, and to be used as a resource to assist researchers in integrating ELSI into NBS pilot studies. Bioethics and Legal Workgroup members for NBSTRN conducted a sequence of professional and public discussions to identify key ELSI challenges facing NBS. Through these discussions, the workgroup developed a series of essential ELSI questions associated with the results parents may receive through NBS and the implementation of NBS for various conditions. Results suggest that the integration of ELSI questions into pilot studies may better our understanding of the potential secondary effects of diagnoses on patients and families. The integration of ELSI questions will help policymakers implement important decisions focused on maximizing positive outcomes and reducing negative implications of newborn screening.
Lead author, Aaron Goldenberg, PhD, is an Associate Professor and Research Director at Case Western Reserve University School of Medicine. Goldenberg works in the Department of Bioethics and Medical Humanities. During his time at Case Western Reserve University, his work has been aimed at the legal, ethical, and social implications of genomic research progress and advancements. His work related to the ethical implications of genomic research have helped shape the policies of modern newborn screening.
The Newborn Screening Translational Network (NBSTRN) is an international network of clinicians, researchers, and parents advocates who support the research and development of newborn screening programs. NBSTRN provided support for the work presented in this study.
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Goldenberg AJ, Lloyd-Puryear M, Brosco JP, et al. Including ELSI research questions in newborn screening pilot studies. Genet Med. 2019;21(3):525-533. doi:10.1038/s41436-018-0101-x