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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Spillmann, Rebecca C; Tan, Queenie K-G; Reuter, Chloe; Schoch, Kelly; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T; Bernstein, Jonathan A; Shashi, Vandana.
Afiliación
  • Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Tan QK; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Reuter C; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Zastrow D; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Alkelai A; Institute for Genome Medicine, Columbia University Medical Center, New York, NY.
  • Baugh E; Institute for Genome Medicine, Columbia University Medical Center, New York, NY.
  • Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC.
  • Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Wheeler MT; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine
  • Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC. Electronic address: vandana.shashi@duke.edu.
Genet Med ; 25(4): 100353, 2023 04.
Article en En | MEDLINE | ID: mdl-36481303
PURPOSE: Next-generation sequencing (NGS) has revolutionized the diagnostic process for rare/ultrarare conditions. However, diagnosis rates differ between analytical pipelines. In the National Institutes of Health-Undiagnosed Diseases Network (UDN) study, each individual's NGS data are concurrently analyzed by the UDN sequencing core laboratory and the clinical sites. We examined the outcomes of this practice. METHODS: A retrospective review was performed at 2 UDN clinical sites to compare the variants and diagnoses/candidate genes identified with the dual analyses of the NGS data. RESULTS: In total, 95 individuals had 100 diagnoses/candidate genes. There was 59% concordance between the UDN sequencing core laboratories and the clinical sites in identifying diagnoses/candidate genes. The core laboratory provided more diagnoses, whereas the clinical sites prioritized more research variants/candidate genes (P < .001). The clinical sites solely identified 15% of the diagnoses/candidate genes. The differences between the 2 pipelines were more often because of variant prioritization disparities than variant detection. CONCLUSION: The unique dual analysis of NGS data in the UDN synergistically enhances outcomes. The core laboratory provided a clinical analysis with more diagnoses and the clinical sites prioritized more research variants/candidate genes. Implementing such concurrent dual analyses in other genomic research studies and clinical settings can improve both variant detection and prioritization.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos