Including ELSI research questions in newborn screening pilot studies

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Abstract

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.

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Acknowledgements

We would like to thank Joanne Adelberg for her support on this manuscript. The work presented in this manuscript funded in part by the Newborn Screening Translational Research Network (funded by the National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health & Human Development—275201300011C-6-0-1).

Author information

Correspondence to Aaron J. Goldenberg PhD., MPH.

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The authors declare no conflict of interest.

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Keywords

  • Newborn screening
  • Ethics
  • Pilot studies
  • Research
  • ELSI