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Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

Stacey Pereira1, Jill Oliver Robinson1, Amanda M Gutierrez1

  • 1Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.

Pediatrics
|January 3, 2019
PubMed

Insights

Parents and clinicians show varied confidence in genomic sequencing (GS) for newborns compared to newborn screening (NBS). While both see benefits, parents perceive a more favorable risk-benefit ratio for GS than clinicians do.

Area of Science:

  • Genomics
  • Pediatrics
  • Bioethics

Background:

  • Interest is growing in using genomic sequencing (GS) for newborn clinical care.
  • Newborn screening (NBS) is the current standard for genetic disorder detection in infants.

Purpose of the Study:

  • To explore parents' and clinicians' attitudes toward newborn genomic sequencing (GS).
  • To compare perceptions of risks, benefits, and utility of GS versus newborn screening (NBS) in newborns.

Main Methods:

  • The BabySeq Project, a randomized controlled trial, surveyed 493 parents and 144 clinicians.
  • Attitudes and perceived risks/benefits of NBS and GS were assessed via baseline surveys.
  • Open-ended responses regarding risks and benefits were thematically categorized.

Main Results:

  • Most parents (71%) and clinicians (51%) agreed GS has health benefits.
  • Parents perceived greater benefits and fewer risks of GS compared to clinicians.
  • Clinicians expressed stronger concerns about privacy and discrimination risks associated with GS.

Conclusions:

  • Parents and clinicians exhibit less confidence in GS than NBS.
  • Parents hold a more optimistic view of GS's risk-benefit ratio than clinicians.
  • Clinicians should recognize that parental optimism may stem from perceived benefits beyond direct clinical utility.
Abstract

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