Exploring collaboration models between geneticists and intensivists for implementing rapid genome sequencing in critical care settings

Kristen P. Fishler, Hannah S. Steber, Luca Brunelli, Ronald J. Shope

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

The availability of rapid genome sequencing (rGS) for children in a critical-care setting is increasing. This study explored the perspectives of geneticists and intensivists on optimal collaboration and division of roles when implementing rGS in neonatal and pediatric intensive care units (ICUs). We conducted an explanatory mixed methods study involving a survey embedded within an interview with 13 genetics and intensive care providers. Interviews were recorded, transcribed, and coded. Geneticists endorsed higher confidence in performing a physical exam and interpreting/communicating positive results. Intensivists endorsed highest confidence in determining whether genetic testing was appropriate, communicating negative results, and consenting. Major qualitative themes that emerged were: (1) concerns with both “genetics-led” and “intensivist-led” models with workflows and sustainability (2) shift the role of determining rGS eligibility to ICU medical professionals, (3) continued role of geneticists to assess phenotype, and (4) include genetic counselors (GCs) and neonatal nurse practitioners to enhance workflow and care. All geneticists supported shifting decisions regarding eligibility for rGS to the ICU team to minimize time cost for the genetics workforce. Exploring models of geneticist-led phenotyping, intensivist-led phenotyping for some indications, and/or inclusion of a dedicated inpatient GC may help offset the time burden of consenting and other tasks associated with rGS.

Original languageEnglish (US)
Pages (from-to)2290-2299
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume191
Issue number9
DOIs
StatePublished - Sep 2023
Externally publishedYes

Keywords

  • critical care
  • genetic counseling
  • rapid genome sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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