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Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.

Publication ,  Journal Article
Beaman, M; Fisher, K; McDonald, M; Tan, QKG; Jackson, D; Cocanougher, BT; Landstrom, AP; Hobbs, CA; Cotten, M; Cohen, JL
Published in: J Pers Med
November 18, 2022

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone and an overall 50% diagnostic rate for the cohort. We describe how the diagnoses led to identification of additional affected relatives and a change in management, the limitations of rapid genome sequencing, and some of the challenges with sample collection. Alongside this pilot study, our site simultaneously established a research protocol pipeline that will allow us to conduct research-based genomic testing in the cases for which a diagnosis was not reached by rapid genome sequencing or other available clinical testing. Here we describe the benefits, limitations, challenges, and potential for rapid whole genome sequencing to be incorporated into routine clinical evaluation in the neonatal period.

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Published In

J Pers Med

DOI

ISSN

2075-4426

Publication Date

November 18, 2022

Volume

12

Issue

11

Location

Switzerland

Related Subject Headings

  • 3214 Pharmacology and pharmaceutical sciences
  • 3206 Medical biotechnology
  • 3205 Medical biochemistry and metabolomics
 

Citation

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Beaman, M., Fisher, K., McDonald, M., Tan, Q. K. G., Jackson, D., Cocanougher, B. T., … Cohen, J. L. (2022). Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline. J Pers Med, 12(11). https://doi.org/10.3390/jpm12111924
Beaman, Makenzie, Kimberley Fisher, Marie McDonald, Queenie K. G. Tan, David Jackson, Benjamin T. Cocanougher, Andrew P. Landstrom, Charlotte A. Hobbs, Michael Cotten, and Jennifer L. Cohen. “Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.J Pers Med 12, no. 11 (November 18, 2022). https://doi.org/10.3390/jpm12111924.
Beaman M, Fisher K, McDonald M, Tan QKG, Jackson D, Cocanougher BT, et al. Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline. J Pers Med. 2022 Nov 18;12(11).
Beaman, Makenzie, et al. “Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.J Pers Med, vol. 12, no. 11, Nov. 2022. Pubmed, doi:10.3390/jpm12111924.
Beaman M, Fisher K, McDonald M, Tan QKG, Jackson D, Cocanougher BT, Landstrom AP, Hobbs CA, Cotten M, Cohen JL. Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline. J Pers Med. 2022 Nov 18;12(11).

Published In

J Pers Med

DOI

ISSN

2075-4426

Publication Date

November 18, 2022

Volume

12

Issue

11

Location

Switzerland

Related Subject Headings

  • 3214 Pharmacology and pharmaceutical sciences
  • 3206 Medical biotechnology
  • 3205 Medical biochemistry and metabolomics