Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement

There is an increasing recognition of the importance of diagnosing genetic conditions with an ever‐growing list of genetic testing options. However, most providers do not have formal genetics training, which makes choosing the most appropriate test to order challenging. Our project sought to improve...

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Veröffentlicht in:American journal of medical genetics. Part A 2024-12, Vol.194 (12), p.e63834-n/a
Hauptverfasser: Jacobsmeyer, Andrew T., Buitrago‐Mogollon, Talia L., White, Blanche, Charles, Jasmyne‐Rian, Clarke‐Pounder, Jessica P., Amador, Jodi, Carter, Lauren B.
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container_title American journal of medical genetics. Part A
container_volume 194
creator Jacobsmeyer, Andrew T.
Buitrago‐Mogollon, Talia L.
White, Blanche
Charles, Jasmyne‐Rian
Clarke‐Pounder, Jessica P.
Amador, Jodi
Carter, Lauren B.
description There is an increasing recognition of the importance of diagnosing genetic conditions with an ever‐growing list of genetic testing options. However, most providers do not have formal genetics training, which makes choosing the most appropriate test to order challenging. Our project sought to improve cytogenetic testing utilization in a tertiary care neonatal intensive care unit (NICU) through utilizing quality improvement techniques, specifically the Model for Improvement framework with rapid Plan‐Do‐Study‐Act cycles. Our project utilized various interventions including the implementation of a NICU genetic testing algorithm. Interventions demonstrated improvement in all areas, specifically a 92% reduction in unnecessary cytogenetic testing with improvement in the diagnostic rate. Our work also resulted in a 59% decrease in charges with an estimated projected savings of $21,000 per year. Quality improvement can minimize redundancies and inefficiencies in genetic testing in a Level IV NICU in a large tertiary care children's hospital and result in substantial cost‐savings.
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subjects Cytogenetics
Genetic screening
Genetic testing
Genetic Testing - economics
Genetic Testing - methods
Genetic Testing - standards
genetic testing utilization
Humans
Infant, Newborn
Intensive care
Intensive Care Units, Neonatal
microarray
Neonates
neonatology
pediatrics
Quality control
Quality Improvement
Tertiary Care Centers
Tertiary Healthcare
title Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement
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