An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

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%) dise

SUBMITTER: Owen MJ 

PROVIDER: S-EPMC9325884 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature