Parents’ perceptions of personal utility of exome sequencing results View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12-20

AUTHORS

Lonna Mollison, Julianne M. O’Daniel, Gail E. Henderson, Jonathan S. Berg, Debra Skinner

ABSTRACT

PurposeClinical 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.MethodsReturn 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.ResultsES results could not provide all the answers to parents’ questions, especially in cases of clinically uninformative results, but parents nonetheless attributed utility to the knowledge gained. Parents across all results categories used the genomic information to rule out possible causes, end or postpone the diagnostic odyssey, and shift focus to treatment and management of symptoms.ConclusionThis study suggests that parents value even uninformative ES results while expressing hope for future discoveries. As pediatric genetics moves toward GS/ES as a first-tier test, how parents perceive the personal utility of negative or uncertain results is an important topic for genetic counseling and further research. More... »

PAGES

752-757

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-019-0730-8

DOI

http://dx.doi.org/10.1038/s41436-019-0730-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1123532944

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31857707


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