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A model to implement genomic medicine in the neonatal intensive care unit

Journal of Perinatology volume 43, pages 248–252 (2023)Cite this article

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Abstract

Rapid genomic sequencing has been shown to have a high diagnostic yield for critically ill infants, with multiple research studies demonstrating both diagnostic and clinical utility. However, clinical implementation of rapid sequencing in the neonatal intensive care unit (NICU), as well as other aspects of genomic medicine such as precision therapy, may be challenging. We describe the Neonatal Genomics Program, developed at our institution as a multidisciplinary approach to improve clinical genetic diagnosis and outcomes for infants in our NICU through genomic medicine. The creation of a dedicated program implementing genomic medicine to improve care in the NICU allows not only for improved access to genomic sequencing for rapid diagnosis, but also advancement of rare disease research and precision therapeutics. Ongoing efforts will help to define an optimal approach to genomic medicine in the NICU context.

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Fig. 1: Overview of neonatal genomics program workflow.
Fig. 2: Barriers to access to a genetic diagnosis.

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No new data were generated for this study.

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Funding

MHW is supported by K23 HD102589. AMD is supported by T32 HD098061. PBA is supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases, R01AR068429-01, National Human Genome Research Institute, 1R01HG011798-01A1 and the “Because of Bella” foundation.

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Authors and Affiliations

  1. Division of Newborn Medicine, Department of Pediatrics, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA

    Monica H. Wojcik, Alissa M. D’Gama & Pankaj B. Agrawal

  2. Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA

    Monica H. Wojcik, Alissa M. D’Gama & Pankaj B. Agrawal

  3. The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA, USA

    Monica H. Wojcik & Pankaj B. Agrawal

  4. The Broad Institute, Cambridge, MA, USA

    Monica H. Wojcik & Pankaj B. Agrawal

  5. Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA

    Alissa M. D’Gama

Authors
  1. Monica H. Wojcik
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  2. Alissa M. D’Gama
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  3. Pankaj B. Agrawal
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Contributions

MHW, AMD, and PBA contributed to conceptualization, methodology, writing of the original draft, and review and editing.

Corresponding authors

Correspondence to Monica H. Wojcik or Pankaj B. Agrawal.

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Competing interests

PBA is a member of the Scientific Advisory Board of Illumina, Inc and GeneDx, Inc. All other authors declare no conflicts of interest.

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Wojcik, M.H., D’Gama, A.M. & Agrawal, P.B. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol 43, 248–252 (2023). https://doi.org/10.1038/s41372-022-01428-z

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