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The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Hayeems, Robin Z; Luca, Stephanie; Ungar, Wendy J; Venkataramanan, Viji; Tsiplova, Kate; Bashir, Naazish S; Costain, Gregory; Inglese, Cara; McNiven, Vanda; Quercia, Nada; Shugar, Andrea; Yoon, Grace; Cytrynbaum, Cheryl; Dupuis, Lucie; Shao, Zhuo; Hewson, Stacy; Shuman, Cheryl; Aul, Ritu; Liston, Eriskay; Babul-Hirji, Riyana; Bushby, Alexandra; Pullenayegum, Eleanor; Chad, Lauren; Meyn, M Stephen.
Afiliación
  • Hayeems RZ; 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.
  • Luca S; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ungar WJ; 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.
  • Venkataramanan V; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Tsiplova K; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bashir NS; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Costain G; 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.
  • Inglese C; 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.
  • McNiven V; 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.
  • Quercia N; 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
  • Shugar A; 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
  • Yoon G; 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.
  • Cytrynbaum C; 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
  • Dupuis L; 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
  • Shao Z; 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.
  • Hewson S; 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
  • Shuman C; Department of Molecular Genetics, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
  • Aul R; 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.
  • Liston E; 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
  • Babul-Hirji R; 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
  • Bushby A; 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.
  • Pullenayegum E; 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.
  • Chad L; 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.
  • Meyn MS; Center for Human Genomics and Precision Medicine, The University of Wisconsin School of Medicine and Public Health, Madison, WI.
Genet Med ; 24(2): 430-438, 2022 02.
Article en En | MEDLINE | ID: mdl-34906486
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas Tipo de estudio: Prognostic_studies / Qualitative_research Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas Tipo de estudio: Prognostic_studies / Qualitative_research Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article