Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions

Xin Li, Rachel Nusbaum, Constance Leonie Smith-Hicks, Leila Jamal, Shannan Dixon, Sonal Mahida

Research output: Contribution to journalArticle

Abstract

Despite its promising diagnostic yield, whole exome sequencing (WES) frequently introduces variant(s) of uncertain significance (VUS), which have been speculated to cause parental stress and anxiety. This study aimed to explore the psychosocial impact of receiving a VUS from pediatric WES on caregivers and to identify implications for clinical practice. Fourteen telephone interviews were conducted with parents or legal guardians who received VUS results from their child's WES to assess their understanding of the result, affective responses, perceived impact, and adaptation. Our content analysis showed that most participants had a good understanding of the purpose of the test and the majority of them recalled the result category. Most participants deemed the result had no impact thus far on their perception of their child's condition. However, one participant reported feelings of fear related to the VUS. Most participants experienced a range of emotions from receiving the result. The majority of participants reported that this result did not significantly alter their child's care or their ability to take care of their child, and three participants reported empowerment. Additionally, several participants expressed an interest in research studies and peer support groups dedicated to families with a VUS identified on WES. Our study elicited new information about the psychosocial impact of receiving a VUS from WES. This insight may help to guide pre- and post-WES counseling in the future.

Original languageEnglish (US)
Pages (from-to)304-312
Number of pages9
JournalJournal of Genetic Counseling
Volume28
Issue number2
DOIs
StatePublished - Apr 1 2019

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Exome
Caregivers
Child Care
Legal Guardians
Emotions
Peer Group
Aptitude
Self-Help Groups
Fear
Counseling
Anxiety
Parents
Interviews
Pediatrics
Research

Keywords

  • experience
  • genetic counseling
  • perception
  • psychosocial impact
  • variant of uncertain significance
  • whole exome sequencing

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions. / Li, Xin; Nusbaum, Rachel; Smith-Hicks, Constance Leonie; Jamal, Leila; Dixon, Shannan; Mahida, Sonal.

In: Journal of Genetic Counseling, Vol. 28, No. 2, 01.04.2019, p. 304-312.

Research output: Contribution to journalArticle

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