Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases.
autoinflammatory diseases
multidisciplinary consultation
next-generation sequencing
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
18 10 2019
18 10 2019
Historique:
received:
21
08
2019
revised:
10
10
2019
accepted:
15
10
2019
entrez:
23
10
2019
pubmed:
23
10
2019
medline:
23
10
2019
Statut:
epublish
Résumé
Monogenic autoinflammatory diseases (AIDs) are caused by variants in genes that regulate innate immunity. The current diagnostic performance of targeted next-generation sequencing (NGS) for AIDs is low. We assessed whether pre-analytic advice from expert clinicians could help improve NGS performance from our 4 years of experience with the sequencing of a panel of 55 AIDs genes. The study included all patients who underwent routine NGS testing between September 2014 and January 2019 at the laboratory of autoinflammatory diseases (Montpellier, France). Before March 2018, all medical requests for testing were accepted. After this time, we required validation by a reference center before NGS: the positive advice could be obtained after a face-to-face consultation with the patient or presentation of the patient's case at a multidisciplinary staff meeting. Targeted NGS resulted in an overall 7% genetic confirmation, which is consistent with recent reports. The diagnostic performance before and after implementation of the new pre-requisite increased from 6% to 10% (
Identifiants
pubmed: 31635385
pii: jcm8101729
doi: 10.3390/jcm8101729
pmc: PMC6832712
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Ministère des Affaires Sociales et de la Santé
ID : No grant. Funding as National Reference Center.
Pays : International
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