Parental request for familial carrier testing in early childhood: The genetic counseling perspective

Sabrina V. Southwick, Ian M. MacFarlane, Catherine Long, Nishitha R. Pillai, Rebecca Tryon

Research output: Contribution to journalArticlepeer-review


Professional guidelines generally caution against carrier testing in minors, though prior research indicates parents request and providers sometimes facilitate testing for unaffected siblings of a child affected by a genetic disorder. We investigated the perspectives of genetic counselors in North America regarding carrier testing prior to adolescence. Practicing genetic counselors (n = 177) responded to an electronic survey assessing their willingness to facilitate testing in four hypothetical scenarios and their evaluation of parental motivations. Participants did not find parental arguments for testing persuasive, and most were unwilling to facilitate carrier testing in children. A significant interaction effect indicated the presence of nonactionable carrier-associated health risks in adulthood made participants significantly less hesitant when the mode of inheritance was X-linked. Participants considered parental motivations that center the child's interests as significantly more persuasive. This study suggests genetic counselors are resistant to carrier testing for familial disorders in young children and tend to align with current guidelines, yet they recognize nuance in various cases. Further investigation into this topic is warranted to support genetic counselors facing these requests as the ethics of pediatric carrier testing continues to be debated.

Original languageEnglish (US)
Pages (from-to)262-272
Number of pages11
JournalClinical Genetics
Issue number3
StatePublished - Mar 2024

Bibliographical note

Publisher Copyright:
© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.


  • bioethics
  • child
  • decision making
  • genetic carrier screening
  • genetic counseling
  • guideline adherence
  • heterozygote
  • parental consent
  • pediatrics

PubMed: MeSH publication types

  • Journal Article
  • Research Support, Non-U.S. Gov't


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