Including ELSI research questions in newborn screening pilot studies

Article metrics



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.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1.

    Watson MS, Marie YM,Lloyd-Puryear MA, et al. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics. 2006;117(suppl 3):S296–S307.

  2. 2.

    Grosse SD, Coleen AB, Kenneson A, et al. From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics. 2006;117:923–929.

  3. 3.

    Therrell BL Jr., Lloyd-Puryear MA, Camp KM, et al. Mann Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab. 2014;113:14–26.

  4. 4.

    Kuehn BM. After 50 years, newborn screening continues to yield public health gains. JAMA. 2013;309.12:1215–1217.

  5. 5.

    Kemper AR. Newborn Screening Translationl Research Network, Annual Network Meeting, Washington, DC, USA. Accessed on September 8, 2016.

  6. 6.

    Advisory Committee on Heritable Disorders in Newborns and Children by Jeffrey Botkin, May 2106. In Rockville, MD.

  7. 7.

    Ross LF. Newborn screening for lysosomal storage diseases: an ethical and policy analysis. J Inherit Metab Dis. 2012;35:627–634.

  8. 8.

    Gurian EA, Daniel DK, Henry JJ, et al. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117:1915–1921.

  9. 9.

    Botkin JR, Rothwell E, Anderson R, et al. Public attitudes regarding the use of residual newborn screening specimens for research. Pediatrics. 2012;129:231–238.

  10. 10.

    Timmermans S, Buchbinder M. Patients-in-waiting: living between sickness and health in the genomics era. J Health Soc Behav. 2010;51:408–423.

  11. 11.

    Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006;29:677–682.

  12. 12.

    Goldenberg AJ, Comeau AM, Grosse SD, et al. Evaluating harms in the assessment of net benefit: a framework for newborn screening condition review. Matern Child Health J. 2016;20:693–700.

  13. 13.

    Wilfond BS, Richard BP, Fost N. Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions. J Pediatr. 2005;147:S109–S113.

  14. 14.

    Bailey DB, et al. Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics. 2008;121:e693–e704.

  15. 15.

    Tarini BA, Aaron JG. Ethical issues with newborn screening in the genomics era. Annu Rev Genomics Hum Genet. 2012;13:381–393.

  16. 16.

    Goldenberg AJ, Richard RS. The ethical hazards and programmatic challenges of genomic newborn screening. JAMA. 2012;307.5:461–462.

  17. 17.

    Peake RW, Bodamer OA. Newborn screening for lysosomal storage disorders. J Pediatr Genet. 2017;6:51–60.

  18. 18.

    Rothenberg KH, Bush LW. Reframing an “open future”: the shifting landscape from NBS to NBSeq. The drama of DNA: narrative genomics. New York: Oxford University Press; 2014; p. 47–56.

  19. 19.

    2018 Parent Project Muscular Dystrophy 401 Hackensack Avenue, 9th Floor, Hackensack, NJ 07601. Accessed on 10 February 2017.

  20. 20.

    The Newborn Screening Translational Research Network, American College of Medical Genetics and Genomics. Bethesda, MD Accessed on 10/04/2017.

  21. 21.

    Public Square Baby’s First Test | Newborn Screening | The Genetic Alliance, Washington, DC USA, Accessed on 10 April 2017.

  22. 22.

    Orsini JJ, Caggana M. Newborn screening for Krabbe disease and other lysosomal storage disorders: broad lessons learned. Int J Neonatal Screen. 2017;3:3.

  23. 23.

    Collins RE, Lopez LM, Marteau TM. Emotional impact of screening: a systematic review and meta-analysis. BMC Public Health. 2011;11:603

  24. 24.

    Tluczek A, Murphy K, Orland LC. Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res. 2010;21:174–186.

  25. 25.

    Morrison DR, Clayton. EW. False positive newborn screening results are not always benign. Public Health Genomics. 2011;14.3:173.

  26. 26.

    Collins RE, Laureen ML, Theresa MM. Emotional impact of screening: a systematic review and meta-analysis. BMC Public Health. 2011;11:603.

  27. 27.

    Tarini BA. The current revolution in newborn screening: new technology, old controversies. Arch Pediatr Adolesc Med. 2007;161:767–772.

  28. 28.

    Kwon C, Philip MF. The magnitude and challenge of false-positive newborn screening test results. Arch Pediatr Adolesc Med. 2000;154.7:714–718.

  29. 29.

    Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006;29:677–682.

  30. 30.

    Tarini BA, Clark SJ, Pilli S, et al. False-positive newborn screening result and future health care use in a state Medicaid cohort. Pediatrics. 2011;128:715–722.

  31. 31.

    Miller FA, Robert JS, Hayeems. RZ. Questioning the consensus: managing carrier status results generated by newborn screening. Am J Public Health. 2009;99:210–215.

  32. 32.

    Committee on Bioethics. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013;131:620–622.

  33. 33.

    Hantash FM, Goos DG, Tsao D, et al. Qualitative assessment of FMR1 (CGG) n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. Genet Med . 2010;12.3:162–173.

  34. 34.

    Chien YH, Lee NC, Huang HJ, et al. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr. 2011;158.6:1023–1027.

  35. 35.

    Levy H, Farrell PM. New challenges in the diagnosis and management of cystic fibrosis. The Journal of pediatrics. 2015;166:1337-41.

  36. 36.

    Baily MA, Thomas HM. Ethics, evidence, and cost in newborn screening. Hastings Cent Report. 2008;38:23–31.

  37. 37.

    Berry SA, Kenney MK, Harris KB, et al. Insurance coverage of medical foods for treatment of inherited metabolic disorders. Genet Med. 2013;15:978.

  38. 38.

    Campbell E, Ross LF. Parental attitudes regarding newborn screening of PKU and DMD. Am J Med Genet A. 2003;120:209–214.

  39. 39.

    Kathleen A, Zuckerman B, Sharfstein JM, et al. A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Rep. 2001;116:122–131.

  40. 40.

    Botkin JR, Clayton EW, Fost NC, et al. Newborn screening technology: proceed with caution. Pediatrics. 2006;117:1793–1799.

  41. 41.

    Botkin JR, Rothwell E, Anderson RA, et al. Prenatal education of parents about newborn screening and residual dried blood spots: a randomized clinical trial. JAMA Pediatr. 2016;170:543–549.

  42. 42.

    Ross LF. Mandatory versus voluntary consent for newborn screening? Kennedy Inst Ethics J. 2010;20:299–328.

Download references


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.

Ethics declarations


The authors declare no conflict of interest.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark


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