The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability

Robin Z Hayeems; Stephanie Luca; Wendy J Ungar; Viji Venkataramanan; Kate Tsiplova; Naazish S Bashir; Gregory Costain; Cara Inglese; Vanda McNiven; Nada Quercia; Andrea Shugar; Grace Yoon; Cheryl Cytrynbaum; Lucie Dupuis; Zhuo Shao; Stacy Hewson; Cheryl Shuman; Ritu Aul; Eriskay Liston; Riyana Babul-Hirji; Alexandra Bushby; Eleanor Pullenayegum; Lauren Chad; M Stephen Meyn

doi:10.1016/j.gim.2021.10.005

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability

Genet Med. 2022 Feb;24(2):430-438. doi: 10.1016/j.gim.2021.10.005. Epub 2021 Nov 30.

Authors

Robin Z Hayeems¹, Stephanie Luca², Wendy J Ungar³, Viji Venkataramanan², Kate Tsiplova², Naazish S Bashir², Gregory Costain⁴, Cara Inglese⁵, Vanda McNiven⁶, Nada Quercia⁷, Andrea Shugar⁷, Grace Yoon⁴, Cheryl Cytrynbaum⁷, Lucie Dupuis⁷, Zhuo Shao⁶, Stacy Hewson⁷, Cheryl Shuman⁸, Ritu Aul⁶, Eriskay Liston⁷, Riyana Babul-Hirji⁷, Alexandra Bushby⁹, Eleanor Pullenayegum⁹, Lauren Chad¹⁰, M Stephen Meyn¹¹

Affiliations

¹ Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada. Electronic address: robin.hayeems@sickkids.ca.
² Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
³ Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
⁴ Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁵ Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.
⁶ Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁷ Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁸ Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁹ Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
¹⁰ Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; Department of Bioethics, The Hospital for Sick Children, Toronto, Ontario, Canada.
¹¹ Center for Human Genomics and Precision Medicine, The University of Wisconsin School of Medicine and Public Health, Madison, WI.

PMID: 34906486
DOI: 10.1016/j.gim.2021.10.005

Abstract

Purpose: Demonstrating the clinical utility of genetic testing is fundamental to clinical adoption and reimbursement, but standardized definitions and measurement strategies for this construct do not exist. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE) offers a novel measure to fill this gap. This study assessed its validity and inter-rater reliability.

Methods: Genetics professionals completed C-GUIDE after disclosure of test results to patients. Construct validity was assessed using regression analysis to measure associations between C-GUIDE and global item scores as well as potentially explanatory variables. Inter-rater reliability was assessed by administering a vignette-based survey to genetics professionals and calculating Krippendorff's α.

Results: On average, a 1-point increase in the global item score was associated with an increase of 3.0 in the C-GUIDE score (P < .001). Compared with diagnostic results, partially/potentially diagnostic and nondiagnostic results were associated with a reduction in C-GUIDE score of 9.5 (P < .001) and 10.2 (P < .001), respectively. Across 19 vignettes, Krippendorff's α was 0.68 (95% CI: 0.63-0.72).

Conclusion: C-GUIDE showed acceptable validity and inter-rater reliability. Although further evaluation is required, C-GUIDE version 1.2 can be useful as a standardized approach to assess the clinical utility of genetic testing.

Keywords: Clinical utility; Inter-rater reliability; Measurement index; Outcomes research; Validation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Genetic Testing*
Humans
Reproducibility of Results
Surveys and Questionnaires

Grants and funding

PJT-152880/CIHR/Canada