Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-04-26

AUTHORS

Ryan S. Paquin, Kathleen F. Mittendorf, Megan A. Lewis, Jessica Ezzell Hunter, Kristy Lee, Jonathan S. Berg, Marc S. Williams, Katrina A. B. Goddard

ABSTRACT

PurposeThe Clinical Genome Resource (ClinGen) Actionability Working Group (AWG) developed a semiquantitative scoring metric to rate clinical actionability of genetic disorders and associated genes in four domains: (1) severity of the outcome, (2) likelihood of the outcome, (3) effectiveness of the intervention to prevent/minimize the outcome, and (4) nature of the intervention with respect to burden, risk, tolerability, and acceptability to the patient. This study aimed to assess whether nature of the intervention scores assigned by AWG experts reflected lay perceptions of intervention burden, risk, tolerability, and acceptability given the subjectivity of this domain.MethodsIn July 2017, a general population sample of 1344 adults completed the study. Each participant was asked to read 1 of 24 plain language medical intervention synopses and answer questions related to its burden, risk, tolerability, and acceptability. We conducted three multilevel mixed model analyses predicting the perceived burden, perceived risk, and perceived overall nature of the intervention.ResultsAs AWG nature of the intervention scores increased, lay perceptions of intervention burden and risk decreased, and perceptions of tolerability and acceptability increased.ConclusionThe findings show alignment between the ClinGen actionability scoring metric and lay perceptions of the nature of the intervention. More... »

PAGES

2561-2568

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-019-0524-z

DOI

http://dx.doi.org/10.1038/s41436-019-0524-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113753726

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31028355


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