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

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 psy

SUBMITTER: Wynn J 

PROVIDER: S-EPMC5899627 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature