| Autor: |
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 |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Genetics in medicine : official journal of the American College of Medical Genetics. 24(2) |
| ISSN: |
1530-0366 |
| Popis: |
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.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.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).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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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