Implementation of a medical genomics program for rare diseases in Uruguay.

Cohort studyOrphanet journal of rare diseases· Jun 2026

Implementation of a medical genomics program for rare diseases in Uruguay.

Camila Simoes, María Fernanda Domínguez, Soledad Rodriguez … Lucia Spangenberg

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Clinical GeneticsCohort studyDiagnosisQ2IF 3.5

Whole exome sequencing gave a genetic diagnosis in 48% of Uruguayan rare disease patients

Implementation of a medical genomics program for rare diseases in Uruguay.

Camila Simoes … Lucia Spangenberg

Orphanet journal of rare diseases · Jun 2026 · Q2 in Genetics

Background

Despite their collective burden, rare diseases pose major diagnostic challenges, often resulting in prolonged diagnostic odysseys with substantial clinical, emotional, and economic consequences.

Methods

Whole exome sequencing (whole exome sequencing) and whole genome sequencing (whole genome sequencing) were performed on a cohort of 203 patients with suspected rare diseases belonging to the Uruguayan public healthcare system.

n = 203 patients

Results

nearly half received a genetic diagnosis through exome sequencing

WES

48%

WGS

31%

More results

To date, we have analyzed a total of 203 patients: 172 using whole exome sequencing, 29 using whole genome sequencing, and 11 using mitochondrial DNA sequencing (9 of whom were also analyzed by whole exome sequencing).

The program significantly shortened diagnostic trajectories and enabled actionable clinical insights in a substantial proportion of cases.

“

Conclusion · 1 of 2

Our experience shows that comprehensive genomic diagnostics for rare diseases can be successfully carried out in emerging genomic medicine settings through integrated workflows and sustained investment in human capital.

Conclusion · 2 of 2

This initiative represents a scalable model for other low income countries seeking to incorporate genomic medicine into public healthcare systems and highlights the importance of regional genomic data to improve diagnostic accuracy and equity.

Implementation of a medical genomics program for rare diseases in Uruguay.

Implementation of a medical genomics program for rare diseases in Uruguay.

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