Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

• Published in: BMJ open Vol. 14; no. 2; p. e080529
• Main Authors: D'Gama, Alissa M, Hills, Sonia, Douglas, Jessica, Young, Vanessa, Genetti, Casie A, Wojcik, Monica H, Feldman, Henry A, Yu, Timothy W, G Parker, Margaret, Agrawal, Pankaj B, Agrawal, Pankaj, Allcroft, Tyler, Bhandari, Vineet, Cantu, Luis, D’Gama, Alissa M, Honrubia, Dynio, Kritzer, Amy, Parker, Margaret, Rhein, Lawrence, Rothstein, Robert, Salinas, Odalys, Santana, Andres, Serna, Anyssa, Shapiro, Faye, Shenoy, Anjana Bhami, Simoncini, Lindsey, Sinha, Bharati, Verran, Aubrie Soucy, Sousa, Anéya, Yu, Timothy, Li, Qifei, Brownstein, Catherine, Schmitz-Abe, Klaus, Tamase Newsam, Marione
• Format: Journal Article
• Language: English
• Published: England British Medical Journal Publishing Group 06-02-2024; BMJ Publishing Group LTD; BMJ Publishing Group
• Series: Protocol
• Subjects: Babies; Caregivers; Families & family life; GENETICS; Genetics and Genomics; Genomes; Genotype & phenotype; Health Equity; Health Services Accessibility; Hispanic Americans; Hospitals; Inclusion; Intensive care; Low income groups; Medical records; Medicine; Minority & ethnic groups; Neonatal care; Neonatal intensive & critical care; NEONATOLOGY; Newborn babies; Paediatric clinical genetics & dysmorphology; Parents & parenting; Pediatrics; United States > US; Neonatal intensive & critical care; Paediatric clinical genetics & dysmorphology; Health Equity; GENETICS; Health Services Accessibility; NEONATOLOGY
• ISSN: 2044-6055; 2044-6055
• DOI: 10.1136/bmjopen-2023-080529

IntroductionRapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to offer state-of-the-art genomic care. Critically ill infants from racial and ethnic minority and/or low-income populations disproportionately receive care in safety-net and/or community settings lacking access to state-of-the-art genomic care, contributing to unacceptable health equity gaps. VIrtual GenOme CenteR is a ‘proof-of-concept’ implementation science study of an innovative delivery model for genomic care in safety-net neonatal intensive care units (NICUs).Methods and analysisWe developed a virtual genome centre at a referral centre to remotely support safety-net NICU sites predominantly serving racial and ethnic minority and/or low-income populations and have limited to no access to rGS. Neonatal providers at each site receive basic education about genomic medicine from the study team and identify eligible infants. The study team enrols eligible infants (goal n of 250) and their parents and follows families for 12 months. Enrolled infants receive rGS, the study team creates clinical interpretive reports to guide neonatal providers on interpreting results, and neonatal providers return results to families. Data is collected via (1) medical record abstraction, (2) surveys, interviews and focus groups with neonatal providers and (3) surveys and interviews with families. We aim to examine comprehensive implementation outcomes based on the Proctor Implementation Framework using a mixed methods approach.Ethics and disseminationThis study is approved by the institutional review board of Boston Children’s Hospital (IRB-P00040496) and participating sites. Participating families are required to provide electronic written informed consent and neonatal provider consent is implied through the completion of surveys. The results will be disseminated via peer-reviewed publications and data will be made accessible per National Institutes of Health (NIH) policies.Trial registration numberNCT05205356/clinicaltrials.gov.