Subjects

Abstract

Purpose

Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively unexplored. Understanding why parents decline research consent for nGS may reveal implementation barriers.

Methods

We evaluated parental interest in a randomized trial of nGS in well-baby and intensive care unit nursery settings. Interested families attended an informational enrollment session (ES) with a genetic counselor prior to consenting. Reason(s) for declining participation and sociodemographic associations were analyzed.

Results

Of 3860 eligible approached families, 10% attended ES, 67% of whom enrolled. Of 1760 families queried for decline reasons, 58% were uninterested in research. Among 499 families considering research, principal reasons for decline prior to ES included burdensome study logistics (48%), feeling overwhelmed postpartum (17%), and lack of interest/discomfort with genetic testing (17%). Decliners after ES more often cited concerns about privacy/insurability (41%) and uncertain/unfavorable results (23%).

Conclusion

Low interest in research and study logistics were major initial barriers to postpartum enrollment and are likely generic to many postpartum research efforts. Concerns over privacy and result implications were most commonly cited in decliners after ES. Understanding parental concerns around research nGS may inform future integration of nGS into newborn screening, predictive testing, and pediatric diagnostics.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1.

    Krier JB, Kalia SS, Green RC. Genomic sequencing in clinical practice: applications, challenges, and opportunities. Dialogues Clin Neurosci . 2016;18:299–312.

  2. 2.

    Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;371:1170.

  3. 3.

    Vassy JL, Christensen KD, Schonman EF, et al. The impact of whole-genome sequencing on the primary care and outcomes of health adult patients: a pilot randomized trial. Ann Intern Med. 2017;167:159–169.

  4. 4.

    Berg J, Agrawal P, Bailey D, et al. Newborn sequencing in genomic medicine and public health. Pediatrics 2017;139:e20162252.

  5. 5.

    Birsoy O, Machini K, Lebo M, et al. A curated gene list for reporting results in newborn genomic sequencing. Genet Med. 2016;19:809–818.

  6. 6.

    Petrikin JE, Cakici JA, Clark MM, et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med. 2018;3:6.

  7. 7.

    Frankel LA, Pereira S, McGuire AL. Potential psychosocial risks of sequencing newborns. Pediatrics. 2016;137(suppl 1):S24–29.

  8. 8.

    Botkin JR, Belmont JW, Berg JS, et al. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet . 2015;97:6–21.

  9. 9.

    Waisbren SE, Bäck DK, Liu C, et al. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med . 2015;17:501–504.

  10. 10.

    Holm I, Agrawal P, Ceyhan-Birsoy O, et al. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatrics. 2018;18:225.

  11. 11.

    Bodian DL, Klein E, Iyer RK, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet Med. 2016;18:221–230.

  12. 12.

    Foglia EE, Nolen TL, DeMauro SB, et al. Short-term outcomes of infants enrolled in randomized clinical trials vs those eligible but not enrolled. JAMA. 2015;313:2377–2379.

  13. 13.

    Rich W, Finer NN, Gantz MG, et al. Enrollment of extremely low birth weight infants in a clinical research study may not be representative. Pediatrics. 2012;129:480–484.

  14. 14.

    Maayan-Metzger A, Kedem-Friedrich P, Kuint J. Motivations of mothers to enroll their newborn infants in general clinical research on well-infant care and development. Pediatrics. 2008;121:e590–596.

  15. 15.

    Skinner D, Choudhury S, Sideris J, et al. Parents’ decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics. 2011;127:e1455–63.

  16. 16.

    Lernmark B, Johnson SB, Vehik K, et al. Enrollment experiences in a pediatric longitudinal observational study: The Environmental Determinants of Diabetes in the Young (TEDDY) study. Contemp Clin Trials. 2011;32:517–523.

  17. 17.

    Hamvas A, Madden KK, Nogee LM, et al. Informed consent for genetic research. Arch Pediatr Adolesc Med. 2004;158:551–555.

  18. 18.

    Tabor HK, Stock J, Brazg T, et al. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A. 2012;158A:1310–1319.

  19. 19.

    Robinson JO, Carroll TM, Feuerman LZ, et al. Participants and study decliners’ perspectives about the risks of participating in a clinical trial of whole genome sequencing. J Empir Res Hum Res Ethics. 2016;11:21–30.

  20. 20.

    Green RC, Lautenbach D, McGuire AL. GINA, genetic discrimination, and genomic medicine. N Engl J Med . 2015;372:397–399.

  21. 21.

    Amendola LM, Robinson JO, Hart R, et al. Why patients decline genomic sequencing studies: experiences from the CSER consortium. J Genet Couns 2018. [Epub ahead of print]

  22. 22.

    National Human Genome Research Institute. Genetic Information Nondiscrimination Act (GINA) of 2008. http://www.genome.gov/24519851. Accessed August 18, 2009.

  23. 23.

    National Conference of State Legislatures. Genetics and health insurance state anti-discrimination laws. 2008. http://www.ncsl.org/research/health/genetic-nondiscrimination-in-health-insurance-laws.aspx. Accessed March 14, 2018.

  24. 24.

    Stark Z, Tan TY, Chong B, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18:1090–1096.

  25. 25.

    Singhal N, Oberle K, Burgess E, Huber-Okrainec J. Parents’ perceptions of research with newborns. J Perinatol . 2002;22:57–63.

  26. 26.

    Golec L, Gibbins S, Dunn MS, Hebert P. Informed consent in the NICU setting: an ethically optimal model for research solicitation. J Perinatol. 2004;24:783–791.

  27. 27.

    Pew Research Center. For most highly educated women, motherhood doesn’t start until the 30s. 2015. http://www.pewresearch.org/fact-tank/2015/01/15/for-most-highly-educated-women-motherhood-doesnt-start-until-the-30s. Accessed May 16, 2018.

  28. 28.

    Centers for Disease Control and Prevention. User guide to the 2016 Natality Public Use File. 2016. https://www.cdc.gov/nchs/data_access/vitalstatsonline.htm. Accessed May 16, 2018.

  29. 29.

    Waisbren SE, Weipert CM, Walsh RC, Petty CR, Green RC. Psychosocial factors influencing parental interest in genomic sequencing of newborns. Pediatrics. 2016;137(suppl 1):S30–5.

  30. 30.

    Goldenberg AJ, Dodson DS, Davis MS, Tarini BA. Parents’ interest in whole-genome sequencing of newborns. Genet Med. 2013;16:78–84.

Download references

Acknowledgements

The authors thank the families and clinicians for their participation in the BabySeq Project. Special thanks to the current and former research assistants, genetic counselors, and research nurses involved in the BabySeq Project recruitment at Brigham and Women's Hospital, Boston Children’s Hospital, and Massachusetts General Hospital. This work was supported by grants U19 HD077671 and R01 HD075802 from the National Institute of Child Health and Human Development and National Human Genome Research Institute of the National Institutes of Health, as well as by the Manton Center for Orphan Disease Research of Boston Children’s Hospital.

Author information

Affiliations

  1. Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, Massachusetts, USA

    • Casie A. Genetti MS
    • , Talia S. Schwartz BA
    • , Grace E. VanNoy MS
    • , Pankaj B. Agrawal MD, MMSc
    • , Ingrid A. Holm MD, MPH
    • , Susan E. Waisbren PhD
    • , Timothy W. Yu MD, PhD
    •  & Alan H. Beggs PhD
  2. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA

    • Jill O. Robinson MA
    • , Devan Petersen MPH
    • , Stacey Pereira PhD
    • , Hayley A. Peoples MPH
    •  & Amy L. McGuire JD, PhD
  3. Department of Medicine, Division of Genetics, Brigham and Women’s Hospital, Boston, Massachusetts, USA

    • Shawn Fayer MSc, MS
    • , Wendi N. Betting BS
    • , Robert C. Green MD, MPH
    •  & Richard B. Parad MD, MPH
  4. Harvard Medical School, Boston, Massachusetts, USA

    • Pankaj B. Agrawal MD, MMSc
    • , Ingrid A. Holm MD, MPH
    • , Susan E. Waisbren PhD
    • , Timothy W. Yu MD, PhD
    • , Robert C. Green MD, MPH
    • , Alan H. Beggs PhD
    •  & Richard B. Parad MD, MPH
  5. Division of Newborn Medicine, Boston Children’s Hospital, Boston, Massachusetts, USA

    • Pankaj B. Agrawal MD, MMSc
  6. The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA

    • Timothy W. Yu MD, PhD
    •  & Robert C. Green MD, MPH
  7. Department of Pediatric Newborn Medicine, Brigham and Women’s Hospital, Boston, MA, USA

    • Richard B. Parad MD, MPH

Authors

  1. Search for Casie A. Genetti MS in:

  2. Search for Talia S. Schwartz BA in:

  3. Search for Jill O. Robinson MA in:

  4. Search for Grace E. VanNoy MS in:

  5. Search for Devan Petersen MPH in:

  6. Search for Stacey Pereira PhD in:

  7. Search for Shawn Fayer MSc, MS in:

  8. Search for Hayley A. Peoples MPH in:

  9. Search for Pankaj B. Agrawal MD, MMSc in:

  10. Search for Wendi N. Betting BS in:

  11. Search for Ingrid A. Holm MD, MPH in:

  12. Search for Amy L. McGuire JD, PhD in:

  13. Search for Susan E. Waisbren PhD in:

  14. Search for Timothy W. Yu MD, PhD in:

  15. Search for Robert C. Green MD, MPH in:

  16. Search for Alan H. Beggs PhD in:

  17. Search for Richard B. Parad MD, MPH in:

Consortia

  1. The BabySeq Project Team

Conflict of interest

Dr. Green receives compensation for speaking or consultation from AIA, Helix, and Veritas; and is cofounder, advisor, and equity holder in Genome Medical, Inc. The other authors declare no conflict of interest.

Corresponding author

Correspondence to Richard B. Parad MD, MPH.

About this article

Publication history

Received

Accepted

Published

DOI

https://doi.org/10.1038/s41436-018-0105-6