SiGenES, a library of genetic information for the Spanish National Health System

Led by the Ministry of Health in Spain, SIGenES aims to create a network for sharing genomic information from all the regions in the country

Challenge

To create a variant library and a genetic test catalog. This involves integrating clinical knowledge, technological infrastructures, and genetic analysis information systems.

Solution

A centralized, modular, and interoperable platform powered by Genomcore and deployed through a federation of nodes enabling standardized and curated variant information sharing across Spain's public health system.

Results

Improved diagnostic accuracy, equitable access to genomic medicine, and enhanced data reusability. SIGenES will facilitate real-time variant interpretation and supports decision-making in precision medicine at a national scale.

Website

Spanish National Healthcare System

Location

Spain

Size

48 M people

About

SIGenES is a flagship project under Spain's Digital Health Strategy. It empowers the National Health System (SNS) to implement precision medicine by enabling shared genomic insights and promoting data governance aligned with ethical, legal, and technical standards.

Project

Implementation of a centralized library of genetic variants

SIGenES implements a centralized library of genetic variants contributed by Spain’s autonomous communities. It operates under a federated architecture, allowing regional systems to annotate, curate, and query genomic data while maintaining sovereignty over clinical pipelines.

Powered by Genomcore Variant Server, the platform supports structured data ingestion, expert review workflows, and automated enrichment using international ontologies and databases like ClinVar. It includes role-based access control, traceability, and notification mechanisms. SIGenES is aligned with the Spanish Recovery Plan and the Vanguard Health PERTE, ensuring a secure, scalable foundation for integrating genomics into everyday clinical practice.