P544: Exome sequencing in a national public system: Real-world outcomes from a Brazilian NDD cohort

Genetics in Medicine Open 2026 Open access

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Authors: Leonardo Simão Medeiros, Osvaldo Artigalás, Têmis Maria Félix, Thayne Woycinck Kowalski, Mariana Rodrigues Botton, Renan César Sbruzzi, Úrsula da Silveira Matte, Fernanda Sales Luiz Vianna, Jonas Alex Morales Saute
DOI: 10.1016/j.gimo.2026.104036
Cited by: 0

Abstract

Exome sequencing (ES) is established as a first-tier diagnostic test for neurodevelopmental disorders (NDD). However, publicly funded implementation in the Brazilian National Health System has only recently begun. Real-world evidence is essential to guide national policies and equitable access. We report early outcomes of ES during its initial deployment at a Public Reference Center for Rare Diseases in Southern Brazil.

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Autism Spectrum Disorder Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104036–104036
Publication date
1 January 2026
Language
EN