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Detection and impact of genetic disease in a level IV neonatal intensive care unit

Journal of Perinatology volume 42, pages 580–588 (2022)Cite this article

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Abstract

Objective

To determine detection rates of genetic disease in a level IV neonatal intensive care unit (NICU) and cost of care.

Study design

We divided 2703 neonates, admitted between 2013 and 2016 to a level IV NICU, into two epochs and determined how genetic testing utilization, genetic diagnoses identified, and cost of NICU care changed over time.

Result

The increasing use of multi-gene panels 104 vs 184 (P = 0.02) and whole exome sequencing (WES) 9 vs 28 (P = 0.03) improved detection of genetic disease, 9% vs 12% (P < 0.01). Individuals with genetic diagnoses had higher mean NICU charges, $723,422 vs $417,013 (P < 0.01) secondary to longer lengths of stay, not genetic services.

Conclusion

The increased utilization of broad genetic testing improved the detection of genetic disease but contributed minimally to the cost of care while bolstering understanding of the patient’s condition and prognosis.

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Fig. 1: Timing and Methods used to confirm genetic diagnoses.
Fig. 2: The path to a genetic diagnosis.

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Data availability

De-identified data can be made available on an individual request.

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Acknowledgements

This study was conducted when the first author was enrolled in the Genetic Counseling Graduate Program, College of Medicine, University of Cincinnati and Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH. Data extraction from the EMR were provided by the Data & Technology Services team at Cincinnati Children’s Hospital Medical Center. Greg Muthig provided data management support for the project. The business office of the Perinatal Institute at CCHMC provided all charge data. The authors would like to thank Kathleen Collins Ruff, MS, LGC and Ammar Husami, PhD for their support of this work. During the study period, Dan Swarr received funding support from National Institutes of Health K08HL130666.

Author information

Authors and Affiliations

  1. Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Leanne Hagen, Divya Khattar, Daniel T. Swarr & Kristen Suhrie

  2. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Leanne Hagen & Hua He

  3. Division of Neonatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Divya Khattar, Daniel T. Swarr & Kristen Suhrie

  4. Auburn University, Auburn, AL, USA

    Katie Whitehead

  5. Division of Neonatal-Perinatal Medicine, Indiana University School of Medicine, Indianapolis, OH, USA

    Kristen Suhrie

Authors
  1. Leanne Hagen
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  2. Divya Khattar
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  3. Katie Whitehead
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  4. Hua He
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  5. Daniel T. Swarr
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  6. Kristen Suhrie
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Contributions

LH participated in the design of the study, data acquisition, organization, and interpretation, as well as drafted the initial manuscript and contributed to the final edits of the publication. DK participated in the acquisition, analysis, and interpretation of data as well as provided edits to the final manuscript. KW participated in data collection and organization as well as provided edits to the final manuscript. HH participated in the statistical analysis and interpretation as well as assisted with edits to the manuscript. DTS contributed to the design and implementation of the project, assisted with data interpretation, and critically revised the final manuscript. KS conceptualized and designed the study, coordinated, and supervised data collection as well as analysis, and drafted the manuscript and completed final edits. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Kristen Suhrie.

Ethics declarations

Competing interests

LH has equity in Exact Sciences Laboratories. KS has participated in a focus group discussion with Illumina. The remaining authors have no conflicts of interest to disclose.

Ethics approval and consent to participate

The need for approval by the CCHMC ethics committee was waived. The study was performed in accordance with the Declaration of Helsinki.

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Hagen, L., Khattar, D., Whitehead, K. et al. Detection and impact of genetic disease in a level IV neonatal intensive care unit. J Perinatol 42, 580–588 (2022). https://doi.org/10.1038/s41372-022-01338-0

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