Literature DB >> 31255390

Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?

Kayleigh A Swaggart1, Daniel T Swarr2, Leandra K Tolusso3, Hua He3, D Brian Dawson4, Kristen R Suhrie5.   

Abstract

OBJECTIVE: To investigate the prevalence of genetic disease and its economic impact in a level IV neonatal intensive care unit (NICU) by identifying and describing diseases diagnosed, genetic testing methodologies used, timing of diagnosis, length of NICU stay, and charges for NICU care. STUDY
DESIGN: A retrospective chart review of patients admitted to a level IV NICU from 2013 to 2014 (n = 1327) was undertaken and data collected up to 2 years of age from the electronic medical record.
RESULTS: In total, 117 patients (9%) received 120 genetic diagnoses using a variety of methodologies. A significant minority of diagnoses, 36%, were made after NICU discharge and 41% were made after 28 days of age. Patients receiving a genetic diagnosis had significantly longer mean lengths of stay (46 days vs 29.1 days; P < .01) and costlier mean charges ($598 712 vs $352 102; P < .01) for their NICU care. The NICU stay charge difference to care for a newborn with a genetic condition was on average $246 610 in excess of that for a patient without a genetic diagnosis, resulting in more than $28 000 000 in excess charges to care for all patients with genetic conditions in a single NICU over a 2-year period.
CONCLUSIONS: Given the high prevalence of genetic disease in this population and the documented higher cost of care, shortening the time to diagnosis and targeting therapeutic interventions for this population could make a significant impact on neonatal care in level IV NICUs.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  genetic testing; healthcare cost; infants

Mesh:

Year:  2019        PMID: 31255390     DOI: 10.1016/j.jpeds.2019.05.054

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  7 in total

1.  Perspectives of United States neonatologists on genetic testing practices.

Authors:  Monica H Wojcik; Maya C Del Rosario; Pankaj B Agrawal
Journal:  Genet Med       Date:  2022-03-15       Impact factor: 8.864

2.  Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Authors:  Yingchao Liu; Chanjuan Hao; Kechun Li; Xuyun Hu; Hengmiao Gao; Jiansheng Zeng; Ruolan Guo; Jun Liu; Jun Guo; Zheng Li; Zhan Qi; Xinlei Jia; Wei Li; Suyun Qian
Journal:  Front Genet       Date:  2021-09-01       Impact factor: 4.599

3.  Integrating rapid exome sequencing into NICU clinical care after a pilot research study.

Authors:  Monica H Wojcik; Pankaj B Agrawal; Alissa M D'Gama; Maya C Del Rosario; Mairead A Bresnahan; Timothy W Yu
Journal:  NPJ Genom Med       Date:  2022-09-05       Impact factor: 6.083

4.  Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.

Authors:  A Marouane; R A C M Olde Keizer; G W J Frederix; L E L M Vissers; W P de Boode; W A G van Zelst-Stams
Journal:  Eur J Pediatr       Date:  2021-08-04       Impact factor: 3.860

5.  Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.

Authors:  Kristen P Fishler; Joshua C Euteneuer; Luca Brunelli
Journal:  Int J Neonatal Screen       Date:  2022-03-21

6.  Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care.

Authors:  Linda S Franck; Andrea Scheurer-Monaghan; Caleb P Bupp; Joseph D Fakhoury; Thomas J Hoffmann; Manasi Deshpandey; Madison Arenchild; David P Dimmock
Journal:  Children (Basel)       Date:  2022-03-04

7.  Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.

Authors:  Tiantian Xiao; Bingbing Wu; Yun Cao; Renchao Liu; Guoqiang Cheng; Laishuan Wang; Deyi Zhuang; Zhengyan Zhao; Huijun Wang; Wenhao Zhou
Journal:  Ann Transl Med       Date:  2021-05
  7 in total

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