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. 2020 Jan;22(1):95-101.
doi: 10.1038/s41436-019-0620-0. Epub 2019 Jul 31.

The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing

R Z Hayeems  1   2 , S Luca  3 , W J Ungar  3   4 , A Bhatt  3 , L Chad  5   6 , E Pullenayegum  3   7 , M S Meyn  8
Affiliations

The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing

R Z Hayeems et al. Genet Med. 2020 Jan.

Abstract

Purpose: Clinical utility describes a genetic test's value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept.

Methods: Item selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals.

Results: A review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE's final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings.

Conclusion: Work to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies to generate policy-relevant evidence pertaining to the clinical utility of genetic testing across a range of settings.

Keywords: clinical utility; clinician perspective; measurement index; mixed methods; outcomes research.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
Flow chart depicting the modifications to Clinician-reported Genetic testing Utility InDEx (C-GUIDE) across versions.
See this image and copyright information in PMC

Comment in

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