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Provision and availability of genomic medicine services in Level IV neonatal intensive care units.
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.
Afiliação
  • Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA; Neonatal Genomics Program, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA. Electronic address: monica.woj
  • Callahan KP; Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA.
  • Antoniou A; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Del Rosario MC; Neonatal Genomics Program, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
  • Brunelli L; Division of Neonatology, University of Utah Health and Primary Children's Hospital, Salt Lake City, UT.
  • ElHassan NO; Division of Neonatology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.
  • Gogcu S; Wake Forest School of Medicine, Department of Pediatrics, Winston-Salem, NC.
  • Murthy K; Ann & Robert H Lurie Children's Hospital of Chicago and Northwestern University, Chicago, IL; Children's Hospitals Neonatal Consortium, Dover, DE.
  • Rumpel JA; Division of Neonatology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.
  • Wambach JA; Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO.
  • Suhrie K; Department of Pediatrics, Division of Neonatal-Perinatal Medicine, and Department of Medical and Molecular Genetics, Riley Hospital for Children and Indiana University School of Medicine, Indianapolis, IN.
  • Fishler K; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE.
  • Chaudhari BP; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Divisions of Neonatology and Genetics and Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH.
Genet Med ; 25(10): 100926, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37422715
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article