Session: Health Services Research Works in Progress
WIP 119 - The Clinician-reported Genetic testing Utility InDEx in the NICU (C-GUIDETM-NICU): Quantifying Genome-wide Sequencing Utility in Neonatal Critical Care
Research Student The Hospital for Sick Children Toronto, Ontario, Canada
Background: Determining the clinical utility of genomic sequencing (GS) requires metrics beyond laboratory performance. Our team previously developed the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to quantify clinical utility in medical genetics settings, but no such metric exists for neonatology. Objective: To develop a novel C-GUIDE tool to quantify clinical utility of GS in neonatal intensive care units (NICUs). Design/Methods: A scoping review was completed to inform a preliminary 21-item C-GUIDE NICU tool. Research ethics approval was granted by the Hospital for Sick Children. Clinicians completed qualitative interviews on the relevance, comprehensibility, and comprehensiveness of the modified C-GUIDE. Interviews were completed with 21 clinicians across Canada and were audio-taped, transcribed, and coded to define the construct and inform item revision. Qualitative analysis revealed the following themes: 1) utility is improved with rapid turn-around times; 2) GS can allow for cessation of invasive workups and improve neonatal quality of life; 3) provision of an “answer” can strengthen decision-making; and 4) utility may be perceived even in the absence of direct changes to patient management. Themes of “disutility” included: 1) potential prolongation of ICU stay while awaiting GS results and 2) familial psychosocial harm related to pursuing genetic testing. Item analysis yielded a revised 19-item tool. An online survey was then distributed to interviewees and study co-investigators to reassess content validity, and survey feedback yielded a further revised 14-item tool. A 3-round Delphi consensus process is now underway to finalize the tool by March 2024; the Delphi Round 1 survey has been completed by 10/24 panelists to date. In summary, there are no standardized methods for measuring the clinical utility of GS. Our expert-informed C-GUIDE tool can provide a novel option for quantifying clinical utility in NICUs. Following further refinement through a consensus process and validation testing, C-GUIDE NICU will be available for use.
