Genomic medicine for undiagnosed diseases.

Adult Child Early Diagnosis Genomics Humans Phenotype Prenatal Diagnosis / methods Rare Diseases / diagnosis Sequence Analysis, DNA / methods Exome Sequencing Whole Genome Sequencing

Journal

Lancet (London, England)
ISSN: 1474-547X
Titre abrégé: Lancet
Pays: England
ID NLM: 2985213R

Informations de publication

Date de publication:
10 Aug 2019
Historique:
received: 17 12 2018
revised: 08 04 2019
accepted: 16 05 2019
pubmed: 10 8 2019
medline: 28 8 2019
entrez: 10 8 2019
Statut: ppublish

Résumé

One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could improve clinical management, prevent complications, and promote health. We explore how genomic medicine is being used to obtain molecular diagnoses for patients with previously undiagnosed diseases in prenatal, paediatric, and adult clinical settings. We focus on the role of clinical genomic sequencing (exome and genome) in aiding patients with conditions that are undiagnosed even after extensive clinical evaluation and testing. In particular, we explore the impact of combining genomic and phenotypic data and integrating multiple data types to improve diagnoses for patients with undiagnosed diseases, and we discuss how these genomic sequencing diagnoses could change clinical management.

Identifiants

DOI: 10.1016/S0140-6736(19)31274-7 PMID: 31395441 PMC: PMC6709871
pubmed: 31395441
pii: S0140-6736(19)31274-7
doi: 10.1016/S0140-6736(19)31274-7
pmc: PMC6709871
mid: NIHMS1537441
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

533-540

Subventions

Organisme : Intramural NIH HHS
ID : Z99 HG999999
Pays : United States

Informations de copyright

Copyright © 2019 Elsevier Ltd. All rights reserved.

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Auteurs

Anastasia L Wise (AL)

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: anastasia.wise@nih.gov.

Teri A Manolio (TA)

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

George A Mensah (GA)

Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Josh F Peterson (JF)

Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.

Dan M Roden (DM)

Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN, USA.

Cecelia Tamburro (C)

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Marc S Williams (MS)

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

Eric D Green (ED)

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Diagnostic › Diagnostic précoce › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic gynécologique et obstétrique › Diagnostic prénatal › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Genomic medicine for undiagnosed diseases.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Genomic medicine for undiagnosed diseases.