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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
- Source :
- Nature communications; vol 13, iss 1, 4057; 2041-1723
- Publication Year :
- 2022
-
Abstract
- 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.
Details
- Database :
- OAIster
- Journal :
- Nature communications; vol 13, iss 1, 4057; 2041-1723
- Notes :
- application/pdf, Nature communications vol 13, iss 1, 4057 2041-1723
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1391588536
- Document Type :
- Electronic Resource