Measuring clinical utility in the context of genetic testing: a scoping review

Standardized approaches to measuring clinical utility will enable more robust evaluations of genetic tests. To characterize how clinical utility has been measured, this scoping review examined outcomes used to operationalize this concept in the context of genetic testing, spanning relevant literatur...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2021-03, Vol.29 (3), p.378-386
Main Authors: Walcott, Shantel E, Miller, Fiona A, Dunsmore, Kourtney, Lazor, Tanya, Feldman, Brian M, Hayeems, Robin Z
Format: Article
Language:English
Subjects:
Accuracy
Clinical decision making
Clinical outcomes
Genetic screening
Genetic testing
Genetic Testing - methods
Genetic Testing - standards
Genetics
Humans
Laboratories
Outcome Assessment, Health Care
Review
Sensitivity and Specificity
Working groups
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Summary:Standardized approaches to measuring clinical utility will enable more robust evaluations of genetic tests. To characterize how clinical utility has been measured, this scoping review examined outcomes used to operationalize this concept in the context of genetic testing, spanning relevant literature (2015-2017). The search strategy and analysis were guided by the Fryback and Thornbury hierarchical model of efficacy (FT Model). Through searches in Ovid MEDLINE, EMBASE and Web of Science, 194 publications were identified for inclusion. Two coders reviewed titles, abstracts, and full texts to determine eligibility. Results were analyzed using thematic and frequency analyses. This review generated a catalog of outcomes mapped to the efficacy domains of the FT Model. The degree of representation observed in each domain varied by the clinical purpose and clinical indication of genetic testing. Diagnostic accuracy (68%), technical (28.4%), and patient outcome (28.4%) efficacy studies were represented at the highest rate. Findings suggest that the FT Model is suitable for the genetics context however domain refinements may be warranted. More diverse clinical settings, robust study designs, and novel strategies for measuring clinical utility are needed.
ISSN:1018-4813
1476-5438
DOI:10.1038/s41431-020-00744-2