Your browser doesn't support javascript.
loading
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn, Noura S; Marathe, Priya N; Kelly, Nicole R; Bonini, Katherine E; Sebastin, Monisha; Odgis, Jacqueline A; Abhyankar, Avinash; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M; Guha, Saurav; Ioele, Nicolette; Okur, Volkan; Ramos, Michelle A; Rodriguez, Jessica E; Rehman, Atteeq U; Thomas-Wilson, Amanda; Edelmann, Lisa; Zinberg, Randi E; Diaz, George A; Greally, John M; Jobanputra, Vaidehi; Suckiel, Sabrina A; Horowitz, Carol R; Wasserstein, Melissa P; Kenny, Eimear E; Gelb, Bruce D.
Afiliación
  • Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; 23andMe, Inc., Sunnyvale, CA.
  • Marathe PN; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Kelly NR; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Sebastin M; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Odgis JA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Abhyankar A; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Brown K; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Illumina Incorporated, San Diego, CA.
  • Di Biase M; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Gallagher KM; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Invitae Corporation, San Francisco, CA.
  • Guha S; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Ioele N; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; Memorial Sloan Kettering Cancer Center, New York, NY.
  • Okur V; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Ramos MA; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Rodriguez JE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Rehman AU; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY.
  • Edelmann L; Sema4, Stamford, CT.
  • Zinberg RE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY; iECURE Incorporated, Phila
  • Greally JM; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • Suckiel SA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Horowitz CR; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY.
  • Wasserstein MP; Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY.
  • Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: eimear.kenny@mss
  • Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic addre
Genet Med ; 25(9): 100880, 2023 09.
Article en En | MEDLINE | ID: mdl-37158195
PURPOSE: Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions. METHODS: Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired study design. RESULTS: A total of 645 probands (median age 9 years) underwent genetic testing, and 113 (17.5%) received a molecular diagnosis. Among 642 probands with both GS and TGP testing, GS yielded 106 (16.5%) and TGPs yielded 52 (8.1%) diagnoses (P < .001). Yield was greater for GS vs TGPs in Hispanic/Latino(a) (17.2% vs 9.5%, P < .001) and White/European American (19.8% vs 7.9%, P < .001) but not in Black/African American (11.5% vs 7.7%, P = .22) population groups by self-report. A higher rate of inconclusive results was seen in the Black/African American (63.8%) vs White/European American (47.6%; P = .01) population group. Most causal copy number variants (17 of 19) and mosaic variants (6 of 8) were detected only by GS. CONCLUSION: GS may yield up to twice as many diagnoses in pediatric patients compared with TGP testing but not yet across all population groups.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Patología Molecular Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Patología Molecular Tipo de estudio: Diagnostic_studies Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos