Related Experiment Video
Updated: May 28, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Development and content validation of the Clinician-reported Genetic testing Utility InDEx for genomic newborn
Salma Shickh1, Stephanie Luca1, Katharine Fooks1
1Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
Purpose:
Genomic newborn screening (gNBS) is emerging worldwide. Evidence of clinical utility, acceptability, and performance is required to guide policy and funding decisions. We aimed to develop a tool called C-GUIDE NBS, adapted from the Clinician-reported Genetic testing Utility InDEx (C-GUIDE), to quantify the clinical utility of gNBS for diagnostic testing.
Methods:
We drafted an initial version of the tool by identifying relevant domains and modifying existing C-GUIDE items. Interviews were conducted with clinicians involved in gNBS to assess item relevance, comprehensibility, and comprehensiveness. We quantified the number of items that clinicians accepted, modified, or rejected and synthesized qualitative feedback to inform a revised version. These participants also completed content validity questionnaires to rate the relevance and clarity of each item using a 4-point Likert scale. The relevance and clarity scores were calculated between 0 and 1. Then, we refined C-GUIDE NBS using a 3-step international Delphi consensus process.
Results:
In the cognitive interviews, participants (N = 22) indicated that 8 of the preliminary 11 items were acceptable for inclusion as is; 2 items required modifications, and 1 was rejected. On the revised 10-item tool, item relevance and clarity scores <0.8 prompted further revision in preparation for the consensus process. In the next step, which involved a Delphi panel, 2 rounds of surveys and 2 consensus meetings with 26 new experts led to the generation of a final 7-item tool.
Conclusion:
Once validated, the C-GUIDE NBS will offer an expert-informed measurement strategy for capturing the clinical utility of gNBS. Following validity testing, the C-GUIDE NBS will be available for licensed use.
