Evolving clinical roles in the era of genomic medicine: Insights from rapid genome sequencing in the neonatal intensive care unit
- 1Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT
Abstract
BackgroundRapid genome sequencing (rGS) is a first-tier test in the neonatal intensive care unit (NICU). Implementation strategies to scale rGS for clinical care may change clinician roles. We analyzed the NICU rGS workflow to understand challenges rGS poses for clinical roles and responsibilities.
MethodsThe study took a qualitative approach to understanding the rGS workflow in Level III and Level IV NICUs. The five workflow phases studied included: i) identification of a patient with a suspected genetic disorder, ii) subspecialist consultation, iii) test selection and ordering, iv) return of results, and v) disclosure. Data were collected via job task journals, interviews, and workflow diagram construction with clinicians involved in rGS. Analysis included participant-guided workflow diagram refinement, qualitative thematic analysis, and identification of rGS workflow challenges.
ResultsWe documented issues related to decision-making authority and scope of responsibility for clinicians, with the majority relating to complexities of subspecialist consultations. Issues included differences in: criteria for triggering consultations, expectations of consulted subspecialists roles, test selection preferences, and responsibility for documenting clinical interpretations and disclosure.
ConclusionSubspecialist consultations in clinical rGS involved significant role ambiguity and communication challenges, requiring intentional implementation efforts to ensure clear clinical roles and responsibilities.
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BibTeX
@misc{taber2026evolving,
title = {{Evolving clinical roles in the era of genomic medicine: Insights from rapid genome sequencing in the neonatal intensive care unit}},
author = {P. Taber and C. Solorzano and L. Weaver and R. Palmquist and J. Butler and T. Ellsworth and M. Bolyard and M. Tristani-Firouzi and P. Estabrooks and S. Malone Jenkins},
howpublished = {medRxiv},
year = {2026},
month = sep,
doi = {10.64898/2026.09.28.26363665},
url = {https://www.medrxiv.org/content/10.64898/2026.09.28.26363665v1},
note = {CC BY-NC-ND},
}
RIS
TY - UNPB
TI - Evolving clinical roles in the era of genomic medicine: Insights from rapid genome sequencing in the neonatal intensive care unit
AU - P. Taber
AU - C. Solorzano
AU - L. Weaver
AU - R. Palmquist
AU - J. Butler
AU - T. Ellsworth
AU - M. Bolyard
AU - M. Tristani-Firouzi
AU - P. Estabrooks
AU - S. Malone Jenkins
PY - 2026
DA - 2026/09/28
PB - medRxiv
DO - 10.64898/2026.09.28.26363665
UR - https://www.medrxiv.org/content/10.64898/2026.09.28.26363665v1
AB - BackgroundRapid genome sequencing (rGS) is a first-tier test in the neonatal intensive care unit (NICU). Implementation strategies to scale rGS for clinical care may change clinician roles. We analyzed the NICU rGS workflow to understand challenges rGS poses for clinical roles and responsibilities. MethodsThe study took a qualitative approach to understanding the rGS workflow in Level III and Level IV NICUs. The five workflow phases studied included: i) identification of a patient with a suspected genetic disorder, ii) subspecialist consultation, iii) test selection and ordering, iv) return of results, and v) disclosure. Data were collected via job task journals, interviews, and workflow diagram construction with clinicians involved in rGS. Analysis included participant-guided workflow diagram refinement, qualitative thematic analysis, and identification of rGS workflow challenges. ResultsWe documented issues related to decision-making authority and scope of responsibility for clinicians, with the majority relating to complexities of subspecialist consultations. Issues included differences in: criteria for triggering consultations, expectations of consulted subspecialists roles, test selection preferences, and responsibility for documenting clinical interpretations and disclosure. ConclusionSubspecialist consultations in clinical rGS involved significant role ambiguity and communication challenges, requiring intentional implementation efforts to ensure clear clinical roles and responsibilities.
ER -