Browsing by Author "Chaudhari, Bimal P."

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    Provision and Availability of Genomic Medicine Services in Level IV Neonatal Intensive Care Units
    (Elsevier, 2023) Wojcik, Monica H.; Callahan, Katharine P.; Antoniou, Austin; del Rosario, Maya C.; Brunelli, Luca; ElHassan, Nahed O.; Gogcu, Semsa; Murthy, Karna; Rumpel, Jennifer A.; Wambach, Jennifer A.; Suhrie, Kristen; Fishler, Kristen; Chaudhari, Bimal P.; Pediatrics, School of Medicine
    Purpose: To describe variation in genomic medicine services across level IV neonatal intensive care units (NICUs) in the United States and Canada. Methods: We developed and distributed a novel survey to the 43 level IV NICUs belonging to the Children's Hospitals Neonatal Consortium, requesting a single response per site from a clinician with knowledge of the provision of genomic medicine services. Results: Overall response rate was 74% (32/43). Although chromosomal microarray and exome or genome sequencing (ES or GS) were universally available, access was restricted for 22% (7/32) and 81% (26/32) of centers, respectively. The most common restriction on ES or GS was requiring approval by a specialist (41%, 13/32). Rapid ES/GS was available in 69% of NICUs (22/32). Availability of same-day genetics consultative services was limited (41%, 13/32 sites), and pre- and post-test counseling practices varied widely. Conclusion: We observed large inter-center variation in genomic medicine services across level IV NICUs: most notably, access to rapid, comprehensive genetic testing in time frames relevant to critical care decision making was limited at many level IV Children's Hospitals Neonatal Consortium NICUs despite a significant burden of genetic disease. Further efforts are needed to improve access to neonatal genomic medicine services.