Estudo randomizado | Efeito do sequenciamento total do genoma na abordagem clínica de crianças agudamente doentes com suspeita de doença genética.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial – JAMA Pediatrics

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This @JAMAPediatrics randomized clinical trial of acutely ill infants showed that access to whole genome sequencing doubled the proportion of patients with a precision diagnosis and a change of clinical management. https://t.co/yykog2UGLT pic.twitter.com/Gd7iuuUWII

— Muin J. Khoury (@MuinJKhoury) September 27, 2021

New study found two-times more infants in the ICU get a diagnosis and precision care when they get genomes. First-line genomes may reduce healthcare disparities by providing equitable access to dx https://t.co/FOO82Mds7D pic.twitter.com/BTb5AwsVHE

— JAMA Pediatrics (@JAMAPediatrics) September 27, 2021