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  • Quality Improvement Article
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Collaborative efforts to improve genetic testing in the neonatal intensive care unit

Journal of Perinatology volume 43, pages 1500–1505 (2023)Cite this article

Subjects

Abstract

Objective

To reduce unnecessary simultaneous karyotype analysis and chromosomal microarray (CMA) testing in the neonatal intensive care unit (NICU).

Study design

This quality improvement study investigated the effect of collaborative efforts between the NICU, cytogenetics, and clinical genetics on numbers of genetic tests, rates of abnormal tests, and number of genetics consults comparing baseline and 5-month intervention periods.

Results

Simultaneous karyotype analyses and CMAs decreased due to a decrease in karyotype testing (11.3% [68/600] vs. 0.98% [6/614], p < 0.01). Karyotype analyses were more likely to be abnormal (13.8% [12/87] vs. 64.0% [16/25], p < 0.01). Frequency of genetics consultation did not change (7.0% [42/600] vs. 9.4% [58/614], p = 0.12).

Conclusion

Collaborative efforts between the NICU, cytogenetics, and clinical genetics decreased redundant genetic testing, which demonstrated potential cost savings to our institution. Ongoing collaborative efforts could facilitate genetic testing practices in the NICU that readily evolve in tandem with genetic testing recommendations.

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Fig. 1: P-chart showing the percent of NICU admissions where a simultaneous karyotype analysis and chromosomal microarray were sent.
Fig. 2: Rates of all genetic testing types.
Fig. 3: Rates of abnormal genetic tests of all types in the baseline and intervention periods.
Fig. 4: Utilization of the clinical genetics team (consult rate) and genetic testing.

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Acknowledgements

Quality improvement efforts between neonatologists, geneticists, and the laboratory reduced unnecessary genetic testing and increased the proportion of diagnostic tests in the Neonatal Intensive Care Unit.

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Authors and Affiliations

  1. Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA

    Bryce A. Schuler, Mackenzie Mosera, L. Dupree Hatch & Angela Grochowsky

  2. Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA

    Ferrin Wheeler

Authors
  1. Bryce A. Schuler
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  2. Mackenzie Mosera
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  3. L. Dupree Hatch
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  4. Angela Grochowsky
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  5. Ferrin Wheeler
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Contributions

BS conducted the literature search, conceptualized and designed the study, drafted the initial manuscript, and critically reviewed the revised manuscript. He also contributed to designing the data collection instruments, collecting data, creating the tables and figures, and carrying out the initial analyses. MM designed data collection instruments, collected data, carried out initial analyses, and critically reviewed and revised the manuscript. LDH conceptualized and designed the study, drafted the initial manuscript, and critically reviewed the revised manuscript. He also contributed to designing the data collection instruments, collecting data, creating the tables and figures, and carrying out the initial analyses. AG conceptualized and designed the study, drafted the initial manuscript, and critically reviewed the revised manuscript. FW conceptualized and designed the study, drafted the initial manuscript, and critically reviewed the revised manuscript. She also contributed to designing the data collection instruments, collecting data, and carrying out the initial analyses. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Bryce A. Schuler.

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Competing interests

DH serves as a member of the scientific advisory board for Novonate, LLC and receives stock options for this position. None of the other authors have any conflicts of interest to disclose.

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Schuler, B.A., Mosera, M., Hatch, L.D. et al. Collaborative efforts to improve genetic testing in the neonatal intensive care unit. J Perinatol 43, 1500–1505 (2023). https://doi.org/10.1038/s41372-023-01817-y

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