Including ELSI research questions in newborn screening pilot studies

Genet Med. 2019 Mar;21(3):525-533. doi: 10.1038/s41436-018-0101-x. Epub 2018 Aug 13.


Background: 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.

Approach: 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.

Results: 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.

Conclusion: 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.

Keywords: ELSI; Ethics; Newborn screening; Pilot studies; Research.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Bioethics
  • Ethics, Research
  • Humans
  • Infant, Newborn
  • Neonatal Screening / ethics*
  • Neonatal Screening / methods*
  • Neonatal Screening / standards
  • Pilot Projects
  • Research Personnel