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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B; Hom, Jason; Sampson, Jacinda; Wheeler, Matthew T; Cogan, Joy; Bernstein, Jonathan A; Adams, David R; McCray, Alexa T; Shashi, Vandana.
Afiliação
  • Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Esteves C; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
  • Bican A; Vanderbilt Center for Undiagnosed Disease, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Spillmann R; Department of Pediatrics, Division of Medical Genetics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Cope H; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Walley N; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Fernandez L; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.
  • Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Reuter C; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Stong N; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • Mulvihill JJ; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.
  • Novacic D; Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD, USA.
  • Wolfe L; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Abdelbaki A; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Toro C; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Tifft C; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Malicdan M; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Gahl W; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Liu P; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA.
  • Newman J; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Goldstein DB; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
  • Hom J; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, MD, USA.
  • Sampson J; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
  • Wheeler MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Cogan J; Vanderbilt Center for Undiagnosed Disease, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Bernstein JA; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.
  • Adams DR; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
  • McCray AT; Department of Medicine, Stanford School of Medicine, Stanford, CA, USA.
  • Shashi V; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
Genet Med ; 23(2): 259-271, 2021 02.
Article em En | MEDLINE | ID: mdl-33093671
ABSTRACT

PURPOSE:

The NIH Undiagnosed Diseases Network (UDN) evaluates participants with disorders that have defied diagnosis, applying personalized clinical and genomic evaluations and innovative research. The clinical sites of the UDN are essential to advancing the UDN mission; this study assesses their contributions relative to standard clinical practices.

METHODS:

We analyzed retrospective data from four UDN clinical sites, from July 2015 to September 2019, for diagnoses, new disease gene discoveries and the underlying investigative methods.

RESULTS:

Of 791 evaluated individuals, 231 received 240 diagnoses and 17 new disease-gene associations were recognized. Straightforward diagnoses on UDN exome and genome sequencing occurred in 35% (84/240). We considered these tractable in standard clinical practice, although genome sequencing is not yet widely available clinically. The majority (156/240, 65%) required additional UDN-driven investigations, including 90 diagnoses that occurred after prior nondiagnostic exome sequencing and 45 diagnoses (19%) that were nongenetic. The UDN-driven investigations included complementary/supplementary phenotyping, innovative analyses of genomic variants, and collaborative science for functional assays and animal modeling.

CONCLUSION:

Investigations driven by the clinical sites identified diagnostic and research paradigms that surpass standard diagnostic processes. The new diagnoses, disease gene discoveries, and delineation of novel disorders represent a model for genomic medicine and science.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças não Diagnosticadas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças não Diagnosticadas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos