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

Autor:	Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Greve V; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL; University of Alabama in Huntsville, Huntsville, AL., Meddaugh H; Department of Clinical Genetics and Metabolism, Children's Hospital New Orleans, New Orleans, LA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Luedecke A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Jackson KE; Department of Pediatrics, University of Louisville, Louisville, KY., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Janani HM; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Johnston M; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Merin LA; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Deans SL; Department of Pediatrics, University of Louisville, Louisville, KY., Tuura C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Williams H; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Laborde K; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Patrick-Esteve J; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Kandasamy J; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Carlo W; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Brothers KB; Department of Pediatrics, University of Louisville, Louisville, KY., Kirmse BM; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Savich R; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Superneau D; Department of Genetics, Woman's Hospital, Baton Rouge, LA., Spedale SB; Department of Pediatrics, Woman's Hospital, Baton Rouge, LA., Knight SJ; Department of Internal Medicine, University of Utah Health, Salt Lake City, UT., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: gcooper@hudsonalpha.org.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 851-861. Date of Electronic Publication: 2021 Nov 27.
DOI:	10.1016/j.gim.2021.11.020
Abstrakt:	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. Competing Interests: Conflict of Interest All authors declare no competing financial interests in relation to the work described. (Copyright © 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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