Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States

J Pediatr. 2021 Dec:239:235-239. doi: 10.1016/j.jpeds.2021.08.010. Epub 2021 Aug 12.

Abstract

Rapid genome sequencing impacted real-time diagnostic and therapeutic management for patients in a nonacademic community hospital. A retrospective chart review of 24 patients identified that more than 60% had a change in medical management as a result of rapid genome sequencing.

Keywords: PICU; exome sequencing; genetics; medical management.

MeSH terms

  • Clinical Decision-Making / methods*
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / genetics
  • Congenital Abnormalities / therapy
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / therapy
  • Genetic Markers
  • Health Services Accessibility
  • Hospitals, Community*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Michigan
  • Patient Care Planning*
  • Practice Patterns, Physicians'
  • Retrospective Studies
  • Tertiary Care Centers
  • Time Factors
  • Whole Genome Sequencing / methods*

Substances

  • Genetic Markers