Parents' perceptions of personal utility of exome sequencing results.

ABSTRACT:

Purpose

Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many individuals with suspected genetic disorders, but also yields negative or uncertain results for the majority. This study examines how parents of a child with an undiagnosed condition attribute personal utility to all types of ES results.

Methods

Return of 31 exome sequencing results was observed during clinic sessions, followed by semistructured interviews with parents one month later. Observations and interviews were recorded and transcribed. Data display matrices were used for content analysis and systematic comparisons of parents' perceptions of utility.

Results

ES results could not provide all the answers to parents' questions, especially in cases of clinically uninformative results,

SUBMITTER: Mollison L 

PROVIDER: S-EPMC7192542 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature