The Clinician-reported Genetic testing Utility InDEx for neonatal intensive care (C-GUIDE NICU): Quantifying Genome-wide Sequencing Utility in the NICU.

Purpose: Use of genomic sequencing (GS) in neonatal intensive care units (NICUs) has increased with improved diagnostic yield. However, uncertainty persists regarding when and for whom GS is most useful. Since a standardized approach to assessing utility is lacking, we developed a novel version of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE^TM) to quantify the utility of GS in NICUs.

Methods: Informed by a scoping review, we developed a draft C-GUIDE NICU tool to quantify utility which underwent iterative revisions through feedback from clinician interviews and questionnaires on item relevance, comprehensibility, and comprehensiveness. We finalized the expert-informed C-GUIDE NICU using an international Delphi consensus process.

Results: Scoping review (n=25 articles) and interviews (n=21) revealed key themes of utility. Guided by qualitative feedback and item scoring, C-GUIDE was iteratively reduced to include 21, 18, and 14 items. The Delphi consensus process with 22 experts achieved item consensus and stability, yielding a final 10-item tool.

Conclusion: Using a rigorous process, we developed a consensus-based standardized method for capturing the clinical utility of GS in NICUs. C-GUIDE NICU can be used by clinicians, researchers, and payers to assess GS value to patient care, and will be available for licensed use following reliability and validity testing.