Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Clin Genet. 2018 May;93(5):1039-1048. doi: 10.1111/cge.13200. Epub 2018 Mar 13.

Abstract

Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the parental experience, understanding and psychological impact of CES by conducting a survey study of English-speaking parents of children who had diagnostic CES. Parents of 192 unique patients participated. The parent's interpretation of the child's result agreed with the clinician's interpretation in 79% of cases, with more frequent discordance when the clinician's interpretation was uncertain. The majority (79%) reported no regret with the decision to have CES. Most (65%) reported complete satisfaction with the genetic counseling experience, and satisfaction was positively associated with years of genetic counselor (GC) experience. The psychological impact of CES was greatest for parents of children with positive results and for parents with anxiety or depression. The results of this study are important for helping clinicians to prepare families for the possible results and variable psychological impact of CES. The frequency of parental misinterpretation of test results indicates the need for additional clarity in the communication of results. Finally, while the majority of patients were satisfied with their genetic counseling, satisfaction was lower for new GCs, suggesting a need for targeted GC training for genomic testing.

Keywords: exome sequencing; genetic counseling; genomic medicine; parental experience; psychological impact.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Disclosure
  • Exome / genetics*
  • Female
  • Genetic Counseling*
  • Genetic Testing
  • Humans
  • Male
  • Parents
  • Surveys and Questionnaires
  • Whole Exome Sequencing / methods*