Implementation of Rapid Whole Genome Sequencing in Pediatric Acute Care is Associated with Positive Shifts in Health Care Professionals' Perspectives Toward Testing

Andrea Scheurer-Monaghan; Joseph D Fakhoury; Caleb P Bupp; Melissa A Hicks; Danielle Nolan; Jessica Omark O'Shea; Thomas J Hoffmann; Renée Mehra; Linda S Franck

doi:10.1016/j.jpeds.2025.114571

Implementation of Rapid Whole Genome Sequencing in Pediatric Acute Care is Associated with Positive Shifts in Health Care Professionals' Perspectives Toward Testing

J Pediatr. 2025 Jul:282:114571. doi: 10.1016/j.jpeds.2025.114571. Epub 2025 Apr 1.

Authors

Andrea Scheurer-Monaghan¹, Joseph D Fakhoury², Caleb P Bupp³, Melissa A Hicks⁴, Danielle Nolan⁵, Jessica Omark O'Shea⁶, Thomas J Hoffmann⁷, Renée Mehra⁸, Linda S Franck⁸

Affiliations

¹ Neonatal Intensive Care, Bronson Children's Hospital, Kalamazoo, MI.
² Pediatric Hospital Medicine, Bronson Children's Hospital, Kalamazoo, MI.
³ Medical Genetics, Corewell Health Helen DeVos Children's Hospital, Grand Rapids, MI.
⁴ Detroit Medical Center University Laboratories, Detroit, MI.
⁵ Pediatric Neurology, Corewell Health Beaumont Children's Hospital, Royal Oak, MI.
⁶ Pediatric Subspecialty Clinic, Sparrow Hospital, Lansing, MI; Division of Genetics, Metabolism, and Genomic Medicine Michigan Medicine, Ann Arbor, MI.
⁷ Department of Epidemiology and Biostatistics, Institute for Human Genetics, and Office of Research School of Nursing, University of California, San Francisco, CA.
⁸ Department of Family Health Care Nursing, University of California, San Francisco, CA.

PMID: 40180287
DOI: 10.1016/j.jpeds.2025.114571

Abstract

Health care professional (HCP) attitudes were more positive after Project Baby Deer statewide collaborative implementation of rapid whole genome sequencing (rWGS) in inpatient pediatrics, and associated with greater rWGS exposure and knowledge. Health care professional recommended improving equity and ease of access to rWGS, and tailored educational materials for clinical teams and families.

Keywords: genetics; genomics; hospital medicine; implementation; medical technology and advancement; pediatrics.

MeSH terms

Attitude of Health Personnel*
Child
Female
Genetic Testing*
Health Personnel* / psychology
Humans
Male
Pediatrics*
Whole Genome Sequencing* / methods