An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
26 07 2022
26 07 2022
Historique:
received:
13
05
2021
accepted:
08
06
2022
entrez:
26
7
2022
pubmed:
27
7
2022
medline:
29
7
2022
Statut:
epublish
Résumé
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for genetic disease diagnosis and acute management guidance. Diagnosis is achieved in 13.5 h by expedited whole genome sequencing, with superior analytic performance for structural and copy number variants. An expert panel adjudicated the indications, contraindications, efficacy, and evidence-of-efficacy of 9911 drug, device, dietary, and surgical interventions for 563 severe, childhood, genetic diseases. The 421 (75%) diseases and 1527 (15%) effective interventions retained are integrated with 13 genetic disease information resources and appended to diagnostic reports ( https://gtrx.radygenomiclab.com ). This system provided correct diagnoses in four retrospectively and two prospectively tested infants. The Genome-to-Treatment system facilitates optimal outcomes in children with rapidly progressive genetic diseases.
Identifiants
pubmed: 35882841
doi: 10.1038/s41467-022-31446-6
pii: 10.1038/s41467-022-31446-6
pmc: PMC9325884
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4057Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR002550
Pays : United States
Organisme : NCATS NIH HHS
ID : U01 TR002271
Pays : United States
Organisme : NICHD NIH HHS
ID : U19 HD077693
Pays : United States
Informations de copyright
© 2022. The Author(s).
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