452 - Customized “Clinical Interpretive Reports” of genomic sequencing results for neonatal providers in safety-net Neonatal Intensive Care Units: development and implementation

Publication Number: 452.4190

Alissa M. D'Gama, Boston Children's Hospital, Dedham, MA, United States; Jessica L. Douglas, Boston Children's Hospital, Boston, MA, United States; Sonia Hills, Boston Children's Hospital, Boston, MA, United States; Monica Wojcik, Boston Children's Hospital, Boston, MA, United States; Casie A. Genetti, Boston Children's Hospital, Boston, MA, United States; Aubrie Soucy Verran, Blank Children's Hospital, Boston, MA, United States; Margaret Parker, UMass Memorial Children's Medical Center, Worchester, MA, United States; Timothy Yu, Harvard Medical School, Boston, MA, United States; Pankaj B.. Agrawal, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States

Background: Rapid genomic sequencing (rGS) has high diagnostic and clinical utility in Neonatal Intensive Care Units (NICUs). However, safety-net NICUs that disproportionately serve marginalized populations face barriers that limit access to rGS, including limited genetics expertise, high cost, and complicated logistics. The Virtual Genome Center (VIGOR) study is an implementation study that aims to address these barriers by providing rGS in safety-net NICUs using an innovative virtual delivery model. In the VIGOR study, neonatal providers with often limited genetics expertise working in safety-net NICUs disclose rGS results to families. The study team developed Clinical Interpretive Reports (CIRs) to guide neonatal providers with disclosures.

Objective: To understand the feasibility and utility of using customized CIRs to assist neonatal providers with interpreting, disclosing, and managing care based on rGS results.

Design/Methods: Enrolled infants at participating safety-net NICUs receive rGS through a clinically accredited vendor. Neonatal providers receive the vendor report and customized CIR. Providers disclose rGS results to families of enrolled infants and complete a post-disclosure survey. We analyzed summary statistics for the vendor reports, CIRs, and post-disclosure surveys for the first 100 enrolled infants who received rGS.

Results: We developed five types of CIRs to provide additional customized interpretation of rGS results based on reported phenotypes, literature review, expert opinion, and vendor reports. The CIRs link the rGS results to clinical management considerations, research opportunities, and resources (Figures 1 and 2). We developed workflows for a multidisciplinary team with expertise in neonatology and genetics/genomics to rapidly triage results, create CIRs, and deliver CIRs to participating sites. We delivered 97/100 CIRs (97%) within our goal timeframe of 3 business days from the vendor report (average 1.3) and made clinical management recommendations in 40/100 CIRs (40%). Most neonatal providers reported using the CIRs prior to disclosing results to families (80/86 who filled out the post-disclosure survey, 93%) and finding the CIRs helpful (79/80, 99%) (Figure 3).

Conclusion(s): It is feasible to rapidly develop customized genomic sequencing reports to assist neonatal providers with returning rGS results. Neonatal providers in safety-net NICUs report using these reports and finding them helpful. Our findings suggest that virtual delivery models including guidance like CIRs may hold promise for equitably advancing genomic care.

Clinical Interpretive Report Templates


Comparison between vendor reports and Clinical Interpretive Reports


Workflow