Genet Med. 2025 Aug 13:101554. doi: 10.1016/j.gim.2025.101554. Online ahead of print.
ABSTRACT
PURPOSE: Through our implementation study providing rapid genomic sequencing (rGS) in safety-net Neonatal Intensive Care Units (NICUs), we investigated the feasibility and perceived usefulness of customized “Clinical Interpretive Reports” (CIRs) to help neonatal providers with interpreting, disclosing, and managing care based on rGS results.
METHODS: Enrolled infants received rGS through a clinically accredited vendor. We developed five CIR types to provide customized interpretation of rGS results and link results to clinical management considerations, research opportunities, and resources. We developed workflows to triage, create, and deliver CIRs within 3 business days. Providers received the vendor reports and CIRs, disclosed results, and completed post-disclosure surveys. We analyzed summary statistics for the first 100 cases.
RESULTS: We delivered 97/100 CIRs (97%) within our goal timeframe (average 1.3 days) and provided clinical management recommendations in 40/100 (40%). Neonatal providers completed the post-disclosure surveys for 86/100 disclosures (86%). Most reported using the CIR prior to disclosure (80/86, 93%) and finding it helpful at providing useful information beyond the vendor report (79/80, 99%).
CONCLUSIONS: It is feasible and useful to develop customized rGS reports to assist non-genetics providers in safety-net NICU settings. Similar approaches may hold promise for equitably advancing genomic care in other non-NICU settings.
PMID:40817795 | DOI:10.1016/j.gim.2025.101554
