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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen, Mallory J; Lefebvre, Sebastien; Hansen, Christian; Kunard, Chris M; Dimmock, David P; Smith, Laurie D; Scharer, Gunter; Mardach, Rebecca; Willis, Mary J; Feigenbaum, Annette; Niemi, Anna-Kaisa; Ding, Yan; Van Der Kraan, Luca; Ellsworth, Katarzyna; Guidugli, Lucia; Lajoie, Bryan R; McPhail, Timothy K; Mehtalia, Shyamal S; Chau, Kevin K; Kwon, Yong H; Zhu, Zhanyang; Batalov, Sergey; Chowdhury, Shimul; Rego, Seema; Perry, James; Speziale, Mark; Nespeca, Mark; Wright, Meredith S; Reese, Martin G; De La Vega, Francisco M; Azure, Joe; Frise, Erwin; Rigby, Charlene Son; White, Sandy; Hobbs, Charlotte A; Gilmer, Sheldon; Knight, Gail; Oriol, Albert; Lenberg, Jerica; Nahas, Shareef A; Perofsky, Kate; Kim, Kyu; Carroll, Jeanne; Coufal, Nicole G; Sanford, Erica; Wigby, Kristen; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lazare, Seka S.
Afiliación
  • Owen MJ; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Lefebvre S; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Hansen C; Alexion Pharmaceuticals, Inc., Boston, MA, 02210, USA.
  • Kunard CM; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Dimmock DP; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Smith LD; Illumina, Inc., San Diego, CA, 92122, USA.
  • Scharer G; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Mardach R; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Willis MJ; Keck Graduate Institute, Claremont, CA, 91711, USA.
  • Feigenbaum A; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Niemi AK; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Ding Y; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Van Der Kraan L; Department of Pediatrics, University of California San Diego, San Diego, CA, 92093, USA.
  • Ellsworth K; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Guidugli L; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Lajoie BR; Department of Pediatrics, University of California San Diego, San Diego, CA, 92093, USA.
  • McPhail TK; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Mehtalia SS; Department of Pediatrics, University of California San Diego, San Diego, CA, 92093, USA.
  • Chau KK; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Kwon YH; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Zhu Z; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Batalov S; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Rego S; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Perry J; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Speziale M; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Nespeca M; Illumina, Inc., San Diego, CA, 92122, USA.
  • Wright MS; Illumina, Inc., San Diego, CA, 92122, USA.
  • Reese MG; Illumina, Inc., San Diego, CA, 92122, USA.
  • De La Vega FM; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Azure J; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Frise E; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Rigby CS; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • White S; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Hobbs CA; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Gilmer S; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Knight G; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Oriol A; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Lenberg J; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Nahas SA; Keck Graduate Institute, Claremont, CA, 91711, USA.
  • Perofsky K; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
  • Kim K; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Carroll J; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Coufal NG; Department of Pediatrics, University of California San Diego, San Diego, CA, 92093, USA.
  • Sanford E; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Wigby K; Department of Pediatrics, University of California San Diego, San Diego, CA, 92093, USA.
  • Weir J; Rady Children's Hospital, San Diego, CA, 92123, USA.
  • Thomson VS; Department of Pediatrics, University of California San Diego, San Diego, CA, 92093, USA.
  • Fraser L; Department of Neuroscience, University of California San Diego, San Diego, CA, 92093, USA.
  • Lazare SS; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92123, USA.
Nat Commun ; 13(1): 4057, 2022 07 26.
Article en En | MEDLINE | ID: mdl-35882841
ABSTRACT
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for genetic disease diagnosis and acute management guidance. Diagnosis is achieved in 13.5 h by expedited whole genome sequencing, with superior analytic performance for structural and copy number variants. An expert panel adjudicated the indications, contraindications, efficacy, and evidence-of-efficacy of 9911 drug, device, dietary, and surgical interventions for 563 severe, childhood, genetic diseases. The 421 (75%) diseases and 1527 (15%) effective interventions retained are integrated with 13 genetic disease information resources and appended to diagnostic reports ( https//gtrx.radygenomiclab.com ). This system provided correct diagnoses in four retrospectively and two prospectively tested infants. The Genome-to-Treatment system facilitates optimal outcomes in children with rapidly progressive genetic diseases.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies Límite: Child / Humans / Infant Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
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PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies Límite: Child / Humans / Infant Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos