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Genomic medicine in neonatal care: progress and challenges

European Journal of Human Genetics volume 31, pages 1357–1363 (2023)Cite this article

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Abstract

During the neonatal period, many genetic disorders present and contribute to neonatal morbidity and mortality. Genomic medicine—the use of genomic information in clinical care— has the potential to significantly reduce morbidity and mortality in the neonatal period and improve outcomes for this population. Diagnostic genomic testing for symptomatic newborns, especially rapid testing, has been shown to be feasible and have diagnostic and clinical utility, particularly in the short-term. Ongoing studies are assessing the feasibility and utility, including personal utility, of implementation in diverse populations. Genomic screening for asymptomatic newborns has also been studied, and the acceptability and feasibility of such an approach remains an active area of investigation. Emerging precision therapies, with examples even at the “n-of-1” level, highlight the promise of precision diagnostics to lead to early intervention and improve outcomes. To sustainably implement genomic medicine in neonatal care in an ethical, effective, and equitable manner, we need to ensure access to genetics and genomics knowledge, access to genomic tests, which is currently limited by payors, feasible processes for ordering these tests, and access to follow up in the clinical and research realms. Future studies will provide further insight into enablers and barriers to optimize implementation strategies.

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Fig. 1: Opportunities for Genetic Testing during the Fetal-Neonatal Continuum.
Fig. 2: Considerations for implementation of genomic medicine in neonatal care.

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Funding

AMD was supported by NICHD/NIH (T32 HD 098061). PBA is supported by NHGRI/NIH (R01HG011798) and “Because of Bella” foundation.

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Authors and Affiliations

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

    Alissa M. D’Gama

  2. Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital, Boston, MA, USA

    Alissa M. D’Gama

  3. Department of Pediatrics, Harvard Medical School, Boston, MA, USA

    Alissa M. D’Gama

  4. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, USA

    Alissa M. D’Gama & Pankaj B. Agrawal

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

    Pankaj B. Agrawal

  6. Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Holtz Children’s Hospital, Jackson Health System, Miami, FL, USA

    Pankaj B. Agrawal

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AMD and PBA conceived the manuscript, AMD drafted the manuscript, and AMD and PBA critically reviewed and edited the manuscript.

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Correspondence to Pankaj B. Agrawal.

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D’Gama, A.M., Agrawal, P.B. Genomic medicine in neonatal care: progress and challenges. Eur J Hum Genet 31, 1357–1363 (2023). https://doi.org/10.1038/s41431-023-01464-z

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