Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

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第一作者： Kevin M,Bowling

第一单位： HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.;Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.

作者： Kevin M,Bowling ^[1] ; Michelle L,Thompson ^[2] ; Melissa A,Kelly ^[3] ; Sarah,Scollon ^[4] ; Anne M,Slavotinek ^[5] ; Bradford C,Powell ^[6] ; Brian M,Kirmse ^[7] ; Laura G,Hendon ^[7] ; Kyle B,Brothers ^[8] ; Bruce R,Korf ^[9] ; Gregory M,Cooper ^[2] ; John M,Greally ^[10] ; Anna C E,Hurst ^[11]

作者单位： HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.;Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA. ^[1] HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA. ^[2] HudsonAlpha Clinical Services Lab, LLC, HudsonAlpha Institute for Biotechnology, Huntsville, USA. ^[3] Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA. ^[4] Department of Pediatrics, University of California, San Francisco, CA, 94158, USA. ^[5] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. ^[6] Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, 39216, USA. ^[7] Norton Children's Research Institute Affiliated with UofL School of Medicine, Louisville, KY, 40202, USA. ^[8] Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 25294, USA. ^[9] Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA. ^[10] Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 25294, USA. achurst@uabmc.edu. ^[11]

关键词 Actionability Age of onset Disease severity Genetic testing Genomics Incidental findings Pediatrics Penetrance Personal utility

主题词人类(Humans);美国(United States);基因组, 人(Genome, Human);染色体图(Chromosome Mapping);碱基序列(Base Sequence);基因组学(Genomics)

DOI 10.1186/s13073-022-01139-2

PMID 36414972

发布时间 2025-01-15

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准确一般字义偏差语意偏离译文作用小提交