Parents' interest in whole-genome sequencing of newborns

Genet Med. 2014 Jan;16(1):78-84. doi: 10.1038/gim.2013.76. Epub 2013 Jun 6.


Purpose: The aim of this study was to assess parents' interest in whole-genome sequencing for newborns.

Methods: We conducted a survey of a nationally representative sample of 1,539 parents about their interest in whole-genome sequencing of newborns. Participants were randomly presented with one of two scenarios that differed in the venue of testing: one offered whole-genome sequencing through a state newborn screening program, whereas the other offered whole-genome sequencing in a pediatrician's office.

Results: Overall interest in having future newborns undergo whole-genome sequencing was generally high among parents. If whole-genome sequencing were offered through a state's newborn-screening program, 74% of parents were either definitely or somewhat interested in utilizing this technology. If offered in a pediatrician's office, 70% of parents were either definitely or somewhat interested. Parents in both groups most frequently identified test accuracy and the ability to prevent a child from developing a disease as "very important" in making a decision to have a newborn's whole genome sequenced.

Conclusion: These data may help health departments and children's health-care providers anticipate parents' level of interest in genomic screening for newborns. As whole-genome sequencing is integrated into clinical and public health services, these findings may inform the development of educational strategies and outreach messages for parents.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attitude to Health
  • Data Collection
  • Genetic Testing*
  • Genome, Human*
  • Humans
  • Infant, Newborn
  • Neonatal Screening / psychology*
  • Parents / psychology*
  • Physicians, Primary Care
  • Sequence Analysis, DNA*
  • United States