Including ELSI research questions in newborn screening pilot studies

Aaron J Goldenberg; Michele Lloyd-Puryear; Jeffrey P Brosco; Bradford Therrell; Lynn Bush; Susan Berry; Amy Brower; Natasha Bonhomme; Bruce Bowdish; Denise Chrysler; Angus Clarke; Thomas Crawford; Edward Goldman; Sally Hiner; R Rodney Howell; David Orren; Benjamin S Wilfond; Michael Watson; Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network

doi:10.1038/s41436-018-0101-x

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.

Authors

Aaron J Goldenberg¹, Michele Lloyd-Puryear², Jeffrey P Brosco³, Bradford Therrell⁴, Lynn Bush⁵, Susan Berry⁶, Amy Brower⁷, Natasha Bonhomme⁸, Bruce Bowdish⁷, Denise Chrysler⁹, Angus Clarke¹⁰, Thomas Crawford¹¹, Edward Goldman¹², Sally Hiner¹³, R Rodney Howell¹⁴, David Orren¹⁵, Benjamin S Wilfond¹⁶, Michael Watson⁵; Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network

Affiliations

¹ Department of Bioethics, Center for Genetic Research Ethics and Law, Case Western Reserve University, Cleveland, Ohio, USA. ajg10@case.edu.
² Parent Project Muscular Dystrophy, Hackensack, New Jersey, USA.
³ Institute for Bioethics and Health Policy, Mailman Center for Child Development, and Department of Pediatrics, University of Miami, Miami, Florida, USA.
⁴ University of Texas Health Science Center at San Antonio and National Newborn Screening and Global Resource Center, Austin, Texas, USA.
⁵ Pediatric Clinical Genetics and Program in Women & Children's Bioethics, Columbia University Medical Center, New York, New York, USA.
⁶ Departments of Pediatrics and Genetics, Cell Biology & Development, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.
⁷ American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
⁸ Genetic Alliance, Washington, DC, USA.
⁹ Network for Public Health Law - Mid-States Region, Ann Arbor, Michigan, USA.
¹⁰ Department of Medical Genetics, University Hospital Wales, Cardiff, Wales, UK.
¹¹ Departments of Neurology and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.
¹² University of Michigan Law School and member of the Center for Bioethics in Social Science and Medicine, The University of Michigan, Ann Arbor, Michigan, USA.
¹³ Michigan Public Health Institute, Okemos, Michigan, USA.
¹⁴ Miller School of Medicine, University of Miami, Miami, Florida, USA.
¹⁵ Minnesota Department of Health, Minneapolis, Minnesota, USA.
¹⁶ Department of Pediatrics, Treuman Katz Center for Pediatric Bioethics Seattle Children's Research Institute, University of Washington School of Medicine, Seattle, Washington, USA.

PMID: 30100612
DOI: 10.1038/s41436-018-0101-x

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.

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