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Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO)

Journal of Perinatology volume 45, pages 495–499 (2025)Cite this article

Subjects

Abstract

Objective

The objective of this study is to describe the impact of rapid and ultra-rapid whole genome sequencing (rWGS/urWGS) on the care of neonatal intensive care (NICU) patients who require extracorporeal membrane oxygenation (ECMO).

Study design

This is a retrospective cohort study at a single-center NICU in a tertiary children’s hospital. The study population includes NICU patients treated with ECMO from May 2017 to September 2023. Patients were evaluated for whether whole genome was completed, speed of testing (rapid vs. ultra-rapid), diagnostic rate, and clinical utility.

Result

Twenty-six (72%) patients had rWGS/urWGS. A diagnosis associated with the patient’s phenotype was made in 12 patients (46%). A change in clinical management was made due to rWGS/urWGS in 10 patients (38%) including avoidance of imaging studies, decisions regarding goals of care, and screening studies.

Conclusion

This study demonstrates a high diagnostic rate and clinical utility of rWGS/urWGS for NICU patients requiring ECMO.

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Author information

Authors and Affiliations

  1. Department of Pediatrics, University of California San Diego, San Diego, CA, USA

    Milan D. Amin, Denise Suttner, Anna-Kaisa Niemi & Jeanne Carroll

  2. Rady Children’s Hospital, San Diego, CA, USA

    Milan D. Amin, Denise Suttner, Anna-Kaisa Niemi & Jeanne Carroll

  3. Department of Pediatrics, University of California Davis, Davis, CA, 95616, USA

    Kristen Wigby

  4. Rady Children’s Institute for Genomic Medicine, San Diego, CA, USA

    Kristen Wigby & Lucia Guidugli

Authors
  1. Milan D. Amin
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  2. Kristen Wigby
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  4. Anna-Kaisa Niemi
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  5. Lucia Guidugli
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  6. Jeanne Carroll
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Contributions

MA – Contributed to the conception of the study, design of the data collection instruments, data collection, interpretation of data, and writing of the manuscript. KW – Contributed to the interpretation of data and writing of the manuscript. DS – Contributed to the conception of the study, interpretation of data, and writing of the manuscript. AN – Contributed to the interpretation of data and writing of the manuscript. LG – Contributed to the interpretation of data and writing of the manuscript. JC – Contributed to the conception of the study, design of the data collection instruments, interpretation of data, and the manuscript process.

Corresponding author

Correspondence to Milan D. Amin.

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Competing interests

The authors have documented no financial relationships to disclose or Conflicts of Interest (COIs) to resolve.

Ethics approval and consent to participate

This study was approved by the institutional review board at the University of California San Diego (Project #201379). It was determined that waiver of information consent may be granted for this project as it meets requirements outlined in 45 CFR 46.116(f). All methods were performed in accordance with relevant guidelines and regulations. The study was performed in accordance with the Declaration of Helsinki.

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Amin, M.D., Wigby, K., Suttner, D. et al. Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO). J Perinatol 45, 495–499 (2025). https://doi.org/10.1038/s41372-024-02181-1

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  • DOI: https://doi.org/10.1038/s41372-024-02181-1

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