The Clinician-reported Genetic Testing Utility Index (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity.

Autor:	Hayeems RZ; Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada. Electronic address: robin.hayeems@sickkids.ca., Luca S; Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Xiao B; Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Boswell-Patterson C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Lavin Venegas C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Abi Semaan CR; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Kolar T; Division of Medical Genetics, British Columbia Children's Hospital, Vancouver, BC, Canada., Myles-Reid D; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Markham Fertility Centre, Toronto, ON, Canada., Chad L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Bioethics, The Hospital for Sick Children, Toronto, ON, Canada., Dyment D; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Lazier J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Ungar WJ; Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON, Canada., Armour CM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 24; Vol. 27 (1), pp. 101306. Date of Electronic Publication: 2024 Oct 24.
DOI:	10.1016/j.gim.2024.101306
Abstrakt:	Purpose: To develop and assess the face and construct validity of the Clinician-reported Genetic Testing Utility Index (C-GUIDE) for genetic testing in prenatal care. Methods: After a literature review and consultation with clinical experts, a preliminary draft of C-GUIDE Prenatal was developed. Its face and content validity were then assessed by 19 prenatal genetics' providers using interviews and surveys. Feedback informed further revisions. To test construct validity, 4 geneticist raters completed C-GUIDE on a retrospective sample of cases that received prenatal genetic testing and completed a concurrent global assessment of utility of these cases using an anchor item. A generalized estimating equations model was used to adjust for rater correlation and measure the association between C-GUIDE scores, global item scores, and potential clinical variables. Results: To develop C-GUIDE Prenatal, 7 items were removed, 10 items were modified, and 4 items were added. For 101 cases rated for validation, on average, a 1-point increase in the global item score was associated with an increase of 1.1 in the C-GUIDE score (P = .04). Compared with uninformative results, informative positive and informative negative results were associated with a mean increase of 10.7 (SE = 1.05) (P < .001) and 5.6 (SE = 1.85) (P < .001), respectively. As indications for testing, known/familial variants were associated with a mean increase in the C-GUIDE score of 4.7 (SE = 2.21) (P < .001) compared with ultrasound findings. C-GUIDE scores increased by a mean of 3.0 (SE = 0.23) among cases for whom pregnancies were ongoing compared with those for whom they were not (P < .01). Conclusion: The significant positive associations between C-GUIDE total and the global item score and between C-GUIDE total, result type, indication for testing, and pregnancy status in the expected directions provide evidence of construct validity. Competing Interests: Conflict of Interest Robin Z. Hayeems is a member of the Ontario Genetics Advisory Committee, and Wendy J. Ungar is the Chair of Ontario Genetics Advisory Committee, tasked to review health technology assessments and make funding recommendations related to genetic technologies in Ontario. All other authors declare no conflicts of interest. (Copyright © 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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