The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.

ABSTRACT: Background: The desire of parents to obtain a genetic diagnosis for their child with intellectual disability and associated symptoms has long been framed as a diagnostic odyssey, an arduous and sometimes perilous journey focused on the goal of identifying a cause for the child's condition.Methods: Semi-structured interviews (N = 60) were conducted with parents of children (N = 59, aged 2-24 years) with intellectual disability and/or developmental delay (IDD) who underwent genome sequencing at a single pediatric multispecialty clinic. Interviews were conducted after parents received their child's sequencing result (positive findings, negative findings, or variants of unknown significance). Thematic analysis was performed on all interviews.Results: Parents reported that

SUBMITTER: Childerhose JE 

PROVIDER: S-EPMC9922533 | biostudies-literature | 2021 Jul-Sep

REPOSITORIES: biostudies-literature