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Bowling KM, Thompson ML, Finnila CR, et al. Genome sequencing as a first-line diagnostic test for hospitalized infants. Genet Med. 2021;doi: 10.1016/j.gim.2021.11.020.
Bowling, K. M., Thompson, M. L., Finnila, C. R., Hiatt, S. M., Latner, D. R., Amaral, M. D., Lawlor, J. M. J., East, K. M., Cochran, M. E., Greve, V., Kelley, W. V., Gray, D. E., Felker, S. A., Meddaugh, H., Cannon, A., Luedecke, A., Jackson, K. E., Hendon, L. G., Janani, H. M., Johnston, M., Merin, L. A., Deans, S. L., Tuura, C., Williams, H., Laborde, K., Neu, M. B., Patrick-Esteve, J., Hurst, A. C. E., Kandasamy, J., Carlo, W., Brothers, K. B., Kirmse, B. M., Savich, R., Superneau, D., Spedale, S. B., Knight, S. J., Barsh, G. S., Korf, B. R., & Cooper, G. M. (2021). Genome sequencing as a first-line diagnostic test for hospitalized infants. Genetics in medicine : official journal of the American College of Medical Genetics, . https://doi.org/10.1016/j.gim.2021.11.020
Bowling, Kevin M, et al. "Genome sequencing as a first-line diagnostic test for hospitalized infants." Genetics in medicine : official journal of the American College of Medical Genetics vol. (2021). doi: https://doi.org/10.1016/j.gim.2021.11.020
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Genome sequencing as a first-line diagnostic test for hospitalized infants. Genet Med. 2021 Nov 27; doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. PMID: 34930662.
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Genet Med. 2021 Nov 27; doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27.

Genome sequencing as a first-line diagnostic test for hospitalized infants.

Genetics in medicine : official journal of the American College of Medical Genetics

Kevin M Bowling, Michelle L Thompson, Candice R Finnila, Susan M Hiatt, Donald R Latner, Michelle D Amaral, James M J Lawlor, Kelly M East, Meagan E Cochran, Veronica Greve, Whitley V Kelley, David E Gray, Stephanie A Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E Jackson, Laura G Hendon, Hillary M Janani, Marla Johnston, Lee Ann Merin, Sarah L Deans, Carly Tuura, Heather Williams, Kelly Laborde, Matthew B Neu, Jessica Patrick-Esteve, Anna C E Hurst, Jegen Kandasamy, Wally Carlo, Kyle B Brothers, Brian M Kirmse, Renate Savich, Duane Superneau, Steven B Spedale, Sara J Knight, Gregory S Barsh, Bruce R Korf, Gregory M Cooper

Affiliations

  1. HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  2. HudsonAlpha Institute for Biotechnology, Huntsville, AL; University of Alabama in Huntsville, Huntsville, AL.
  3. Department of Clinical Genetics and Metabolism, Children's Hospital New Orleans, New Orleans, LA.
  4. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
  5. Department of Pediatrics, University of Louisville, Louisville, KY.
  6. Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS.
  7. Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA.
  8. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL.
  9. Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA.
  10. HudsonAlpha Institute for Biotechnology, Huntsville, AL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
  11. Department of Genetics, Woman's Hospital, Baton Rouge, LA.
  12. Department of Pediatrics, Woman's Hospital, Baton Rouge, LA.
  13. Department of Internal Medicine, University of Utah Health, Salt Lake City, UT.
  14. HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: [email protected].

PMID: 34930662 DOI: 10.1016/j.gim.2021.11.020

Abstract

PURPOSE: SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research.

METHODS: GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing.

RESULTS: Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups.

CONCLUSION: We describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results show the utility of GS because it provides early-in-life detection of clinically relevant genetic variations not detected by current clinical genetic testing, particularly for infants exhibiting certain phenotypic features.

Copyright © 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Keywords: Diagnostic yield; Genetic diagnosis; Genome sequencing; Infants; Utility

Conflict of interest statement

Conflict of Interest All authors declare no competing financial interests in relation to the work described.

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