Cuidal’HFutur Diagnostic: Implementation of Precision Genomics for the Diagnosis of Unresolved Hereditary Cancer and Adult Rare Diseases

ABOUT THE PROJECT

Cuidal’HFutur Diagnostic is an initiative within the Cuidal’HFutur program that aims to improve the diagnosis of unresolved cases of hereditary cancer and rare diseases in adults through the implementation of advanced genomic medicine strategies in the public healthcare system. The project focuses on patients attended at the Campus de Salut Bellvitge who remain without a definitive diagnosis after conventional diagnostic approaches.

Led jointly by researchers from IDIBELL, ICO and Hospital Universitari de Bellvitge, the initiative will provide access to whole genome sequencing (WGS) and complementary molecular technologies for approximately 2,000 patients, representing around 5,000 genomes analyzed. The project combines genomic, clinical and molecular information to improve diagnostic yield, support therapeutic decision-making and accelerate the integration of precision medicine into routine clinical practice.

Cuidal’HFutur Diagnpstic also aims to address inequities in access to genomic medicine in a highly diverse urban population such as L’Hospitalet de Llobregat. Through standardized workflows, multidisciplinary interpretation committees and collaboration with national reference centers, the program seeks to ensure equitable, efficient and clinically actionable genomic diagnostics. In parallel, the initiative will generate genomic and clinical data to support future research and innovation in cancer and rare diseases.